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<meta name="keywords" content="C0030312, bone marrow failure, disease or syndrome, low blood cell count, pancytopaenia, pancytopenia, pancytopenias, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=18281
ConceptID=C0030312
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pancytopenia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18281</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0030312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Pancytopenias</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Pancytopenia (127034005)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001876">HP:0001876</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0001529" target="_blank">MONDO:0001529</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0030312[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=18281">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=18281" ref="ncbi_uid=18281">V</a></span></span><span class="TLline">Pancytopenia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/892905" ref="tree=MeSH" title="MedGen record for Abnormal bone marrow cell morphology">Abnormal bone marrow cell morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868624" ref="tree=MeSH" title="MedGen record for Abnormality of multiple cell lineages in the bone marrow">Abnormality of multiple cell lineages in the bone marrow</a></span><ul><li><span class="matched_ds">Pancytopenia</span><ul><li><span class="TLline"><a href="/medgen/8063" ref="tree=MeSH" title="MedGen record for Aplastic anemia">Aplastic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/75769" ref="tree=MeSH" title="MedGen record for Aplastic anemia due to drugs">Aplastic anemia due to drugs</a></span></li><li><span class="TLline"><a href="/medgen/124414" ref="tree=MeSH" title="MedGen record for Aplastic anemia due to infection">Aplastic anemia due to infection</a></span><ul><li><span class="TLline"><a href="/medgen/408133" ref="tree=MeSH" title="MedGen record for Aplastic Anemia due to Hepatitis">Aplastic Anemia due to Hepatitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/99172" ref="tree=MeSH" title="MedGen record for Aplastic anemia due to radiation">Aplastic anemia due to radiation</a></span></li><li><span class="TLline"><a href="/medgen/182696" ref="tree=MeSH" title="MedGen record for Hypoplastic anemia - familial">Hypoplastic anemia - familial</a></span><ul><li><span class="TLline"><a href="/medgen/266045" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia">Diamond-Blackfan anemia</a></span></li><li><span class="TLline"><a href="/medgen/41967" ref="tree=MeSH" title="MedGen record for Fanconi anemia">Fanconi anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87595" ref="tree=MeSH" title="MedGen record for Idiopathic aplastic anemia">Idiopathic aplastic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1750439" ref="tree=MeSH" title="MedGen record for Non-Severe Aplastic Anemia">Non-Severe Aplastic Anemia</a></span></li><li><span class="TLline"><a href="/medgen/1661033" ref="tree=MeSH" title="MedGen record for Recurrent Aplastic Anemia">Recurrent Aplastic Anemia</a></span><ul><li><span class="TLline"><a href="/medgen/1663591" ref="tree=MeSH" title="MedGen record for Recurrent Severe Aplastic Anemia">Recurrent Severe Aplastic Anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/407975" ref="tree=MeSH" title="MedGen record for Severe Aplastic Anemia">Severe Aplastic Anemia</a></span><ul><li><span class="TLline"><a href="/medgen/1654271" ref="tree=MeSH" title="MedGen record for Refractory Severe Aplastic Anemia">Refractory Severe Aplastic Anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1732130" ref="tree=MeSH" title="MedGen record for Very Severe Aplastic Anemia">Very Severe Aplastic Anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/730446" ref="tree=MeSH" title="MedGen record for Aplastic bone marrow">Aplastic bone marrow</a></span></li><li><span class="TLline"><a href="/medgen/419754" ref="tree=MeSH" title="MedGen record for Bone marrow failure syndrome">Bone marrow failure syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/458917" ref="tree=MeSH" title="MedGen record for Inherited bone marrow failure syndrome">Inherited bone marrow failure syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/78580" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita">Dyskeratosis congenita</a></span></li><li><span class="TLline"><a href="/medgen/124418" ref="tree=MeSH" title="MedGen record for Shwachman syndrome">Shwachman syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1613695" ref="tree=MeSH" title="MedGen record for Pancytopenia caused by medication">Pancytopenia caused by medication</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_56237"><div><strong>Fanconi-like syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56237</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0151638</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/56237">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78653"><div><strong>Gaucher disease type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78653</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0268251</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78653">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_82822"><div><strong>Isovaleryl-CoA dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82822</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0268575</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Individuals with clinical manifestations of isovaleric acidemia (IVA) have either classic IVA identified on newborn screening or classic IVA with a later diagnosis due to a missed diagnosis or later onset of clinical manifestations. Classic IVA is characterized by acute metabolic decompensations (vomiting, poor feeding, lethargy, hypotonia, seizures, and a distinct odor of sweaty feet). Acute metabolic decompensations are typically triggered by fasting, (febrile) illness (especially gastroenteritis), or increased protein intake. Clinical deterioration often occurs within hours to days after birth. Additional manifestations of classic IVA include developmental delay, intellectual disability and/or impaired cognition, epilepsy, and movement disorder (tremor, dysmetria, extrapyramidal movements). Early treatment in those identified by newborn screening can significantly reduce morbidity and mortality in individuals with classic IVA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82822">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75694"><div><strong>Propionic acidemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75694</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0268579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The spectrum of propionic acidemia (PA) ranges from neonatal onset to late-onset disease. Neonatal-onset PA, the most common form, is characterized by a healthy newborn with poor feeding and decreased arousal in the first few days of life, followed by progressive encephalopathy of unexplained origin. Without prompt diagnosis (often through newborn screening) and management, this is followed by progressive encephalopathy manifesting as lethargy, seizures, or coma that can result in death. It is frequently accompanied by metabolic acidosis with anion gap, lactic acidosis, ketonuria, hypoglycemia, hyperammonemia, and cytopenias. Individuals with late-onset PA may remain asymptomatic and suffer a metabolic crisis under catabolic stress (e.g., illness, surgery, fasting) or may experience a more insidious onset with the development of multiorgan complications including vomiting, protein intolerance, failure to thrive, hypotonia, developmental delays or regression, movement disorders, or cardiomyopathy. Isolated cardiomyopathy can be observed on rare occasions in the absence of clinical metabolic decompensation or neurocognitive deficits. Manifestations of neonatal-onset and late-onset PA over time can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, cardiomyopathy, and chronic kidney disease. Other rarely reported complications include optic atrophy, sensorineural hearing loss, and premature ovarian insufficiency.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75694">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_90978"><div><strong>Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90978</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0342284</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90978">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_137976"><div><strong>Transcobalamin II deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137976</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0342701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Transcobalamin II deficiency (TCN2D) is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities (summary by Haberle et al., 2009).&#13; Hall (1981) gave a clinically oriented review of congenital defects of vitamin B12 transport, and Frater-Schroder (1983) gave a genetically oriented review.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/137976">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_87459"><div><strong>Pearson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87459</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0342784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Single large-scale mitochondrial DNA deletion syndromes (SLSMDSs) comprise overlapping clinical phenotypes including Kearns-Sayre syndrome (KSS), KSS spectrum, Pearson syndrome (PS), chronic progressive external ophthalmoplegia (CPEO), and CPEO-plus. KSS is a progressive multisystem disorder with onset before age 20 years characterized by pigmentary retinopathy, CPEO, and cardiac conduction abnormality. Additional features can include cerebellar ataxia, tremor, intellectual disability or cognitive decline, dementia, sensorineural hearing loss, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, and endocrinopathies. Brain imaging typically shows bilateral lesions in the globus pallidus and white matter. KSS spectrum includes individuals with KSS in addition to individuals with ptosis and/or ophthalmoparesis and at least one of the following: retinopathy, ataxia, cardiac conduction defects, hearing loss, growth deficiency, cognitive impairment, tremor, or cardiomyopathy. Compared to CPEO-plus, individuals with KSS spectrum have more severe muscle involvement (e.g., weakness, atrophy) and overall have a worse prognosis. PS is characterized by pancytopenia (typically transfusion-dependent sideroblastic anemia with variable cell line involvement), exocrine pancreatic dysfunction, poor weight gain, and lactic acidosis. PS manifestations also include renal tubular acidosis, short stature, and elevated liver enzymes. PS may be fatal in infancy due to neutropenia-related infection or refractory metabolic acidosis. CPEO is characterized by ptosis, ophthalmoplegia, oropharyngeal weakness, variable proximal limb weakness, and/or exercise intolerance. CPEO-plus includes CPEO with additional multisystemic involvement including neuropathy, diabetes mellitus, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. Rarely, an SLSMDS can manifest as Leigh syndrome, which is characterized as developmental delays, neurodevelopmental regression, lactic acidosis, and bilateral symmetric basal ganglia, brain stem, and/or midbrain lesions on MRI.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87459">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_99306"><div><strong>Subcutaneous panniculitis-like T-cell lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99306</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0522624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8 (see 186910)+ T cells infiltrate adipose tissue forming subcutaneous nodules. Both children and adults can be affected, with a median age at diagnosis of 36 years and a female gender bias. Most patients have accompanying systemic features such as fever or flank pain. A subset (about 20%) of patients develop hemophagocytic lymphohistiocytosis (HLH), usually associated with CD8+ T cells rimming adipocytes in the bone marrow. An infectious agent is not identified, and the disorder is believed to result from improperly activated inflammation. Immunosuppressive therapy may be helpful; hematopoietic bone marrow transplantation is usually curative (summary by Gayden et al., 2018).&#13; For a general discussion of genetic heterogeneity of HLH, see HLH1 (267700).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/99306">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_164078"><div><strong>Schimke immuno-osseous dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164078</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0877024</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/164078">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_216941"><div><strong>Dyskeratosis congenita, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>216941</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1148551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/216941">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_224855"><div><strong>Deficiency of transaldolase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224855</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1291329</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Transaldolase deficiency (TALDOD) is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular face, loose wrinkly skin at birth, and development of progressive liver failure (summary by Lee-Barber et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/224855">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_230896"><div><strong>Ataxia-pancytopenia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>230896</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1327919</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SAMD9L ataxia-pancytopenia (ATXPC) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure, myelodysplasia, and myeloid leukemia, sometimes associated with monosomy 7. The onset of hematologic abnormalities has been reported as early as age three months. The cytopenias in all cell lineages range from mild to very severe. Onset of neurologic impairment is variable. Nystagmus, dysmetria, increased deep tendon reflexes, and clonus are common. Gait impairment and other neurologic abnormalities are slowly progressive.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/230896">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_332084"><div><strong>Aicardi-Goutieres syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332084</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1835912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/332084">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336848"><div><strong>X-linked lymphoproliferative disease due to XIAP deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336848</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1845076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis, dysgammaglobulinemia, and lymphoproliferative disease (malignant lymphoma). The condition primarily affects males. XLP has two recognizable subtypes, XLP1 (due to pathogenic variants in SH2D1A) and XLP2 (due to pathogenic variants in XIAP). HLH / fulminant infectious mononucleosis is the most common presentation regardless of subtype. HLH is characterized as an acute illness with prolonged and high fever, bi- or trilineage cytopenias, and hepatosplenomegaly, which is often severe or fatal. Death is generally secondary to liver failure or multisystem organ dysfunction. In those with XLP1, dys- or hypogammaglobulinemia can lead to varying degrees of humoral immune dysfunction associated with bronchiectasis and recurrent respiratory infections that, if untreated, may result in death. Lymphoproliferative disease (malignant lymphoma) and other lymphoproliferative diseases are specific to XLP1 and often develop in childhood, usually following EBV exposure. Rarer findings in those with XLP1 can include aplastic anemia, vasculitis, and lymphoid granulomatosis. Males with XLP2 are more likely to have HLH without EBV infection, recurrent episodes of HLH (which is not typically seen in those with XLP1), splenomegaly, and gastrointestinal disease, including enterocolitis and perirectal abscesses or fistulae. Rarely, individuals with XLP2 and inflammatory bowel disease have been reported to develop inflammatory liver disease, which can progress to fatal liver failure. Transient hypogammaglobulinemia has been rarely observed in those with XLP2. To date, neither lymphoproliferative disease nor common variable immunodeficiency has been reported in males with XLP2. Heterozygous females rarely have symptoms. There are, however, increasing numbers of reports of affected females with unfavorable (skewed) X-chromosome inactivation favoring the X chromosome with the pathogenic variant who develop HLH, inflammatory bowel disease, and erythema nodosum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336848">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_375620"><div><strong>Deafness-intellectual disability, Martin-Probst type syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375620</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1845285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Martin-Probst syndrome (MRXSMP) is characterized by congenital sensorineural hearing loss, mild to severe cognitive impairment, short stature, and facial dysmorphism, including telecanthus, hypertelorism, epicanthic folds, broad mouth, and low-set ears. Variable features include renal and genitourinary abnormalities and late-onset pancytopenia (Martin et al., 2000).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375620">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_339855"><div><strong>DNA ligase IV deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339855</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1847827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">LIG4 syndrome is an autosomal recessive severe combined immunodeficiency with features of radiosensitivity, chromosomal instability, pancytopenia, and developmental and growth delay. Leukemia and dysmorphic facial features have been reported in some patients (summary by van der Burg et al., 2006).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/339855">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336373"><div><strong>Methylmalonic aciduria and homocystinuria type cblF</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1848578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336373">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_342420"><div><strong>Autosomal recessive osteopetrosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342420</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1850126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nOther features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342420">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376708"><div><strong>Autosomal recessive osteopetrosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376708</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1850127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012).&#13; Genetic Heterogeneity of Autosomal Recessive Osteopetrosis&#13; Other forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (611490), which is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13, and OPTB5 (259720), which is caused by mutation in the OSTM1 gene (607649) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; 259710) is caused by mutation in the TNFSF11 gene (602642) on chromosome 13q14, an intermediate form (OPTB6; 611497) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; 612301) is caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q21. Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. OPTB9 (620366) is caused by mutation in the SLC4A2 gene (109280) on chromosome 7q36.&#13; Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376708">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_344420"><div><strong>Methylmalonic aciduria, cblB type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344420</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1855102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/344420">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_344422"><div><strong>Methylmalonic aciduria, cblA type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344422</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1855109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/344422">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341563"><div><strong>Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341563</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1856476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341563">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341705"><div><strong>Dyskeratosis congenita, autosomal recessive 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341705</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1857144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341705">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_346801"><div><strong>Pyogenic arthritis-pyoderma gangrenosum-acne syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346801</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1858361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) is a rare autosomal dominant autoinflammatory disease that typically presents with recurrent sterile, erosive arthritis in childhood, occurring spontaneously or after minor trauma, occasionally resulting in significant joint destruction. By puberty, joint symptoms tend to subside and cutaneous symptoms predominate, including pathergy, frequently with abscesses at the sites of injections, severe cystic acne, and recurrent nonhealing sterile ulcers, often diagnosed as pyoderma gangrenosum (summary by Demidowich et al., 2012).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346801">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_400366"><div><strong>Familial hemophagocytic lymphohistiocytosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400366</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1863727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; 147570) and TNF-alpha (191160), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see 267700.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/400366">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_409531"><div><strong>Gaucher disease type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409531</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1961835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/409531">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_409627"><div><strong>Autosomal recessive osteopetrosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409627</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1968603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive osteopetrosis-5 (OPTB5) is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (summary by Quarello et al., 2004).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/409627">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_382434"><div><strong>Autoimmune lymphoproliferative syndrome type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382434</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2674723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">RAS-associated leukoproliferative disorder (RALD) is characterized by lymphadenopathy, splenomegaly, and variable autoimmune phenomena, including autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, and neutropenia. Laboratory studies show an expansion of lymphocytes due to defective apoptosis, as well as significant autoantibodies. Some patients have recurrent infections, and there may be an increased risk of hematologic malignancy (summary by Oliveira, 2013 and Niemela et al., 2010).&#13; The disorder shows significant overlap with autoimmune lymphoproliferative syndrome (ALPS; 601859) and was originally designated ALPS IV.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/382434">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_394568"><div><strong>Sarcoidosis, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394568</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2697310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/394568">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_419040"><div><strong>Intrauterine growth retardation with increased mitomycin c sensitivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419040</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2931307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419040">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_461999"><div><strong>Syndromic multisystem autoimmune disease due to ITCH deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461999</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3150649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/461999">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462555"><div><strong>Constitutional megaloblastic anemia with severe neurologic disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462555</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3151205</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462555">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462559"><div><strong>Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462559</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3151209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely (summary by Belostotsky et al., 2011).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462559">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462791"><div><strong>Dyskeratosis congenita, autosomal recessive 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462791</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3151441</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462791">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462792"><div><strong>Dyskeratosis congenita, autosomal recessive 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462792</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3151442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462792">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462793"><div><strong>Dyskeratosis congenita, autosomal dominant 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3151443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462793">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462795"><div><strong>Dyskeratosis congenita, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462795</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3151445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462795">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_463627"><div><strong>Fanconi anemia complementation group D2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463627</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3160738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/463627">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_463628"><div><strong>Fanconi anemia complementation group E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463628</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3160739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/463628">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_481294"><div><strong>Deafness-lymphedema-leukemia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481294</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3279664</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary lymphedema with myelodysplasia, also known as Emberger syndrome, is a rare disorder characterized by childhood-onset lymphedema of the lower limbs, with lymphoscintigraphy suggestive of lymphatic vessel hypoplasia, and genital lymphatic abnormalities. Myelodysplasia is usually with monosomy 7. Multiple warts, deafness, and minor anomalies (mild hypotelorism, neck webbing, and slender fingers) may also be present (summary by Mansour et al., 2010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/481294">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_483324"><div><strong>Fanconi anemia complementation group C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483324</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3468041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/483324">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_483333"><div><strong>Fanconi anemia complementation group A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483333</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3469521</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/483333">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_854020"><div><strong>Fanconi anemia complementation group P</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854020</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3469542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854020">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_764868"><div><strong>Coenzyme Q10 deficiency, primary, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>764868</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3551954</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).&#13; The disorder has been associated with 4 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); and Leigh syndrome with growth retardation (van Maldergem et al., 2002). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment.&#13; Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency&#13; See also COQ10D2 (614651), caused by mutation in the PDSS1 gene (607429) on chromosome 10p12; COQ10D3 (614652), caused by mutation in the PDSS2 gene (610564) on chromosome 6q21; COQ10D4 (612016), caused by mutation in the COQ8 gene (ADCK3; 606980) on chromosome 1q42; COQ10D5 (614654), caused by mutation in the COQ9 gene (612837) on chromosome 16q21; COQ10D6 (614650), caused by mutation in the COQ6 gene (614647) on chromosome 14q24; COQ10D7 (616276), caused by mutation in the COQ4 gene (612898) on chromosome 9q34; COQ10D8 (616733), caused by mutation in the COQ7 gene (601683) on chromosome 16p13; and COQ10D9 (619028), caused by mutation in the COQ5 gene (616359) on chromosome 12q24.&#13; Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; 231680), caused by mutation in the ETFDH gene (231675) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1; 208920), caused by mutation in the APTX gene (606350) on chromosome 9p13.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/764868">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_765548"><div><strong>Lymphoproliferative syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765548</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3552634</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).&#13; For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/765548">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_766144"><div><strong>COG6-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766144</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3553230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).&#13; For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766144">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_766426"><div><strong>Combined immunodeficiency due to LRBA deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766426</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3553512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).&#13; For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766426">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_766531"><div><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766531</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3553617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766531">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_766536"><div><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766536</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3553622</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766536">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767454"><div><strong>Lymphoproliferative syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767454</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).&#13; For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767454">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_814883"><div><strong>Autosomal dominant aplasia and myelodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814883</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3808553</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bone marrow failure syndrome-1 (BMFS1) is an autosomal dominant condition characterized by early-onset aplastic anemia or pancytopenia in some patients, and adult-onset myelodysplasia in others. Deafness or labyrinthitis also has been observed in affected individuals (Kirwan et al., 2012).&#13; Genetic Heterogeneity of Bone Marrow Failure Syndrome&#13; See also BMFS2 (615715), caused by mutation in the ERCC6L2 gene (615667) on chromosome 9q22; BMFS3 (617052), caused by mutation in the DNAJC21 gene (617048) on chromosome 5p13; BMFS4 (618116), caused by mutation in the MYSM1 gene (612176) on chromosome 1p32; BMFS5 (618165), caused by mutation in the TP53 gene (191170) on chromosome 17p13; BMFS6 (618849), caused by mutation in the MDM4 gene (602704) on chromosome 1q32; BMFS7 (AMEDS; 619151), caused by mutation in the ADH5 gene (103710) on chromosome 4q accompanied by a specific mutation in the ALDH2 gene (100650) on chromosome 12q24; and BMFS8 (ZHS; 620501), caused by mutation in the SLC30A7 gene (611149) on chromosome 1p21.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/814883">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816383"><div><strong>Combined immunodeficiency due to OX40 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816383</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3810053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-16 (IMD16) is an autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency (Byun et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816383">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_854497"><div><strong>Vasculitis due to ADA2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854497</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3887654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854497">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_854829"><div><strong>Aicardi-Goutieres syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854829</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3888244</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854829">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863504"><div><strong>Periodic fever-infantile enterocolitis-autoinflammatory syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863504</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4015067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863504">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_896157"><div><strong>Fanconi anemia complementation group T</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896157</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4084840</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/896157">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_905078"><div><strong>Pancytopenia due to IKZF1 mutations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905078</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225173</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Common variable immunodeficiency-13 (CVID13) is an autosomal dominant primary immunodeficiency disorder characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells. The age at onset of clinical features can range from infancy to adulthood, and some patients may have a mild disorder or even remain clinically asymptomatic (summary by Kuehn et al., 2016).&#13; For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/905078">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_904824"><div><strong>Dyskeratosis congenita, autosomal dominant 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904824</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225284</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/904824">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934711"><div><strong>Bone marrow failure syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934711</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4310744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016).&#13; BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018).&#13; For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934711">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1390862"><div><strong>Cerebroretinal microangiopathy with calcifications and cysts 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1390862</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4479220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1390862">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1615364"><div><strong>Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615364</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4540434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1615364">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1637056"><div><strong>Seckel syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637056</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997).&#13; Genetic Heterogeneity of Seckel Syndrome&#13; Other forms of Seckel syndrome include SCKL2 (606744), caused by mutation in the RBBP8 gene (604124) on chromosome 18q11; SCKL4 (613676), caused by mutation in the CENPJ gene (609279) on chromosome 13q12; SCKL5 (613823), caused by mutation in the CEP152 gene (613529) on chromosome 15q21; SCKL6 (614728), caused by mutation in the CEP63 gene (614724) on chromosome 3q22; SCKL7 (614851), caused by mutation in the NIN gene (608684) on chromosome 14q22; SCKL8 (615807), caused by mutation in the DNA2 gene (601810) on chromosome 10q21; SCKL9 (616777), caused by mutation in the TRAIP gene (605958) on chromosome 3p21; SCKL10 (617253), caused by mutation in the NSMCE2 gene (617246) on chromosome 8q24; and SCKL11 (620767), caused by mutation in the CEP295 gene (617728) on chromosome 11q21.&#13; The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see History section.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1637056">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1640046"><div><strong>Shwachman-Diamond syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640046</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4692625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is an early finding. Short stature and recurrent infections are common.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1640046">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1631307"><div><strong>Combined oxidative phosphorylation deficiency 34</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631307</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4693450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).&#13; For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1631307">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1662266"><div><strong>Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1662266</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4749914</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ALPK1-related autoinflammatory disease (ALPK1-AD) is characterized by clinical findings that can include intraocular inflammation, retinal degeneration, recurrent fever, deforming arthritis, and headaches. Anhidrosis/hypohidrosis, dental caries, short dental roots, and hyposalivation are common. While most adults have ophthalmologic manifestations, vision loss is not universal. Although significant intrafamilial variability can occur, most individuals with ALPK1-AD exhibit at least one clinical or laboratory feature (such as episodic low-grade fever or episodic elevation of serum markers of inflammation such as C-reactive protein). To date, 41 individuals from 19 families with a pathogenic variant in ALPK1 have been described.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1662266">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1681210"><div><strong>NAD(P)HX dehydratase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681210</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5193026</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-2 (PEBEL2) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, and sometimes seizures, resulting in death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Van Bergen et al., 2019).&#13; For a discussion of genetic heterogeneity of PEBEL, see PEBEL1 (617186).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1681210">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1681890"><div><strong>Immunodeficiency 60</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681890</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5193072</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-60 and autoimmunity (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation (summary by Afzali et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1681890">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1770239"><div><strong>X-linked lymphoproliferative disease due to SH2D1A deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770239</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5399825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis, dysgammaglobulinemia, and lymphoproliferative disease (malignant lymphoma). The condition primarily affects males. XLP has two recognizable subtypes, XLP1 (due to pathogenic variants in SH2D1A) and XLP2 (due to pathogenic variants in XIAP). HLH / fulminant infectious mononucleosis is the most common presentation regardless of subtype. HLH is characterized as an acute illness with prolonged and high fever, bi- or trilineage cytopenias, and hepatosplenomegaly, which is often severe or fatal. Death is generally secondary to liver failure or multisystem organ dysfunction. In those with XLP1, dys- or hypogammaglobulinemia can lead to varying degrees of humoral immune dysfunction associated with bronchiectasis and recurrent respiratory infections that, if untreated, may result in death. Lymphoproliferative disease (malignant lymphoma) and other lymphoproliferative diseases are specific to XLP1 and often develop in childhood, usually following EBV exposure. Rarer findings in those with XLP1 can include aplastic anemia, vasculitis, and lymphoid granulomatosis. Males with XLP2 are more likely to have HLH without EBV infection, recurrent episodes of HLH (which is not typically seen in those with XLP1), splenomegaly, and gastrointestinal disease, including enterocolitis and perirectal abscesses or fistulae. Rarely, individuals with XLP2 and inflammatory bowel disease have been reported to develop inflammatory liver disease, which can progress to fatal liver failure. Transient hypogammaglobulinemia has been rarely observed in those with XLP2. To date, neither lymphoproliferative disease nor common variable immunodeficiency has been reported in males with XLP2. Heterozygous females rarely have symptoms. There are, however, increasing numbers of reports of affected females with unfavorable (skewed) X-chromosome inactivation favoring the X chromosome with the pathogenic variant who develop HLH, inflammatory bowel disease, and erythema nodosum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1770239">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1750003"><div><strong>Rajab interstitial lung disease with brain calcifications 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750003</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rajab interstitial lung disease with brain calcifications-1 (RILDBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by Xu et al., 2018).&#13; Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications&#13; Also see Rajab interstitial disease with brain calcifications-2 (RILDBC2; 619013), caused by mutation in the FARSA gene (602918).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1750003">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1735911"><div><strong>Immunodeficiency 69</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1735911</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436498</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-69 (IMD69) is an autosomal recessive disorder characterized by increased susceptibility to disseminated mycobacterial infection, including after BCG (bacille Calmette-Guerin) vaccination. Affected individuals develop fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. There appears to be normal immunologic function against other pathogens, including viruses and bacteria. Immunologic work-up shows normal parameters, but patient T and NK cells fail to produce gamma-interferon (IFNG) when stimulated in vitro (summary by Kerner et al., 2020).&#13; IMD69 is a form of mendelian susceptibility to mycobacterial disease (MSMD) (see, e.g., IMD27A; 209950).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1735911">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1740566"><div><strong>Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1740566</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436549</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-73B with defective neutrophil chemotaxis (IMD73B) is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood. Affected individuals develop respiratory infections, cellulitis, and severe invasive infections or sepsis; organisms include bacteria such as Staphylococcus, as well as viruses, fungi, and mycobacterial species. Laboratory studies show variable abnormalities, including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TRECs and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis. Hematopoietic stem cell transplantation is curative (summary by Hsu et al., 2019; review by Lougaris et al., 2020).&#13; In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1740566">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1762901"><div><strong>Monosomy 7 myelodysplasia and leukemia syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1762901</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436668</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Monosomy 7 myelodysplasia and leukemia syndrome-2 (M7MLS2) is an autosomal dominant hematologic disorder characterized by onset of pancytopenia, acute myelogenous leukemia (AML), and variable features of myelodysplastic syndrome (MDS) usually in the first decades of life. Bone marrow cells show monosomy 7. Germline mutations in the SAMD9 gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by Wong et al., 2018).&#13; For a discussion of genetic heterogeneity of monosomy 7 myelodysplasia and leukemia syndrome, see 252270.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1762901">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794177"><div><strong>DEGCAGS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794177</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5561967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794177">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1805650"><div><strong>Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1805650</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5676927</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1805650">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1808468"><div><strong>Agammaglobulinemia 8b, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808468</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5676958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive agammaglobulinemia-8B (AGM8B) is characterized by onset of recurrent infections in early childhood. Laboratory studies of affected individuals show decreased circulating immunoglobulins and decreased peripheral B cells. More variable features may include dysmorphic facies and subtle abnormalities of other immune cells, such as T cells. One patient who developed childhood B-cell acute lymphocytic leukemia (B-ALL) has been described (summary by Ben-Ali et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1808468">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1803642"><div><strong>Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803642</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5676977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy (Rodero et al., 2017). Treatment with a JAK (see 147795) inhibitor (baricitinib) may be effective (Hong et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1803642">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1809425"><div><strong>Immunodeficiency 105</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809425</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5677005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-105 (IMD105) is an autosomal recessive disorder characterized by onset of recurrent infections in early infancy. Manifestations may include pneumonia, dermatitis, and lymphadenopathy. B-cell lymphoma was reported in 1 patient. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. The disorder is caused by a deficiency of transmembrane protein CD45 (PTPRC) on leukocytes, which plays an important role in T- and B-cell development (Cale et al., 1997; Kung et al., 2000).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1809425">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1823991"><div><strong>Bone marrow failure and diabetes mellitus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823991</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bone marrow failure and diabetes mellitus syndrome (BMFDMS) is an autosomal recessive disorder characterized by the onset of manifestations of bone marrow failure, such as anemia, thrombocytopenia, and dyserythropoiesis, in infancy or early childhood. White blood cell lineages may or may not be affected. Patients with BMFDMS also develop nonautoimmune insulin-dependent diabetes mellitus in the first or second decades, likely due to apoptosis of pancreatic beta cells. Many patients show pigmentary skin abnormalities and short stature. Bone marrow transplant is curative for the bone marrow failure, but does not have an effect on diabetes (Dos Santos et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1823991">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824030"><div><strong>Dyskeratosis congenita, autosomal recessive 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824030</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive dyskeratosis congenita-8 (DKCB8) is characterized by progressive bone marrow failure affecting all lineages apparent from infancy or early childhood. More variable features may include poor growth, mild developmental delay, immunodeficiency, and gastrointestinal manifestations, such as esophageal stricture or inflammatory bowel disease. Some patients may have mucocutaneous features, including oral leukoplakia, nail dystrophy, or pigmentary skin abnormalities, although these features may be absent. Unlike patients with other forms of DKC, those with DKCB8 do not have shortened telomeres, although there is evidence of telomere instability. Hematopoietic stem cell transplant may be curative (Kermasson et al., 2022).&#13; For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824030">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1840982"><div><strong>Immunodeficiency 109 with lymphoproliferation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840982</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-109 with EBV-induced lymphoproliferation (IMD109) is an autosomal recessive primary immune disorder characterized by onset of recurrent sinopulmonary infections in childhood. Affected individuals are susceptible to infection with EBV and develop EBV viremia and EBV-associated lymphoproliferative disease or B-cell lymphoma. Immunologic workup shows normal levels of T, B, and NK cells, with defective CD8+ T cell function after stimulation. Some patients may have hypogammaglobulinemia and poor antibody response to stimulation (Alosaimi et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1840982">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841075"><div><strong>Hatipoglu immunodeficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841075</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hatipoglu immunodeficiency syndrome (HATIS) is an autosomal recessive immunologic disorder characterized by childhood onset of failure to thrive, skin manifestations, pancytopenia, and susceptibility to recurrent infections (Harapas et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841075">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1845022"><div><strong>Congenital amegakaryocytic thrombocytopenia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845022</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5882667</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital amegakaryocytic thrombocytopenia-1 (CAMT1) is an autosomal recessive disorder characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood. The disorder is progressive and evolves to pancytopenia and bone marrow failure. Serum thrombopoietin is elevated. There is a favorable response to bone marrow transplantation (Muraoka et al., 1997; King et al., 2005).&#13; Genetic Heterogeneity of Congenital Amegakaryocytic Thrombocytopenia&#13; CAMT2 (620481) is caused by mutation in the THPO gene (600044) on chromosome 3q27.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1845022">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1848998"><div><strong>Amegakaryocytic thrombocytopenia, congenital, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848998</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5882679</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital amegakaryocytic thrombocytopenia-2 (CAMT2) is an autosomal recessive disorder characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure. Serum THPO is decreased or inappropriately normal, and bone marrow is hypocellular with decreased or absent megakaryocytes. Most patients present in infancy or early childhood and have a severe disease course, whereas some have later onset and milder symptoms. Bone marrow transplant is ineffective because the defect is extrinsic to hematopoietic cells. Treatment with THPO receptor (MPL; 159530) agonists results in clinical improvement and restoration of trilineage hematopoiesis (Dasouki et al., 2013; Seo et al., 2017).&#13; For a discussion of genetic heterogeneity of CAMT, see CAMT1 (604498).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1848998">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1846947"><div><strong>Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846947</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5882734</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Thrombocytopenia-11 with multiple congenital anomalies and dysmorphic facies (THC11) is a syndromic disorder characterized by dysmorphic facial features, multiple congenital anomalies that may involve the heart, brain, genitourinary, endocrine, and/or skeletal systems, chronic and persistent thrombocytopenia, sometimes with leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. The disorder results from constitutive activation of the RAS signaling pathway and can be considered a RASopathy (Niemann et al., 2020; Miller et al., 2022).&#13; For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1846947">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1856296"><div><strong>Thrombocytopenia 13, syndromic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1856296</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Syndromic thrombocytopenia-13 (THC13) is an autosomal recessive disorder characterized mainly by congenital thrombocytopenia resulting in increased bleeding. Platelets tend to be enlarged (macrothrombocytopenia) and/or gray and show functional defects. Some patients have infection-induced leukopenia or anemia and pancytopenia. Additional more variable features have also been reported, including mitral valve malformations, pyloric stenosis, and impaired intellectual development (Seo et al., 2019; Febres-Aldana et al., 2020; Marin-Quilez et al., 2023).&#13; For a discussion of genetic heterogeneity of thrombocytopenia, see THC1 (313900).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1856296">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1861832"><div><strong>Neurodevelopmental disorder with progressive movement abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861832</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with progressive movement abnormalities (NEDPM) is an autosomal recessive complex neurologic disorder characterized by global developmental delay apparent from infancy, moderately to severely impaired intellectual development, poor or absent speech, behavioral abnormalities, and various hyperkinetic movement disorders, including dystonia, spasticity, and cerebellar ataxia, that interfere with gait and cause a stooped posture. The disorder appears to be progressive with age-related deterioration of cognitive and motor function; parkinsonism may develop in older patients. Additional more variable features include seizures, dysmorphic facial features, oculomotor defects, and brain imaging abnormalities (Kaiyrzhanov et al., 2024).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1861832">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1857440"><div><strong>Proteasome-associated autoinflammatory syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857440</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-6 (PRAAS6) is characterized by a proteasome-associated autoinflammatory syndrome with immunodeficiency (Kanazawa et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1857440">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 8</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_216941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, X-linked</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hemophagocytic lymphohistiocytosis 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group C</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group D2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463628" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group E</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group P</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group T</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_56237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi-like syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease type I</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease type III</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hatipoglu immunodeficiency syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 105</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 109 with lymphoproliferation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 60</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1735911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 69</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1740566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intrauterine growth retardation with increased mitomycin c sensitivity</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isovaleryl-CoA dehydrogenase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_765548" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphoproliferative syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphoproliferative syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria and homocystinuria type cblF</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria, cblA type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria, cblB type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1762901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Monosomy 7 myelodysplasia and leukemia syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">NAD(P)HX dehydratase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with progressive movement abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancytopenia due to IKZF1 mutations</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pearson syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863504" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periodic fever-infantile enterocolitis-autoinflammatory syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Propionic acidemia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1805650" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyogenic arthritis-pyoderma gangrenosum-acne syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rajab interstitial lung disease with brain calcifications 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1662266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sarcoidosis, susceptibility to, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schimke immuno-osseous dysplasia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1637056" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shwachman-Diamond syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_99306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subcutaneous panniculitis-like T-cell lymphoma</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic multisystem autoimmune disease due to ITCH deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1846947" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1856296" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 13, syndromic</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transcobalamin II deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vasculitis due to ADA2 deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked lymphoproliferative disease due to SH2D1A deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked lymphoproliferative disease due to XIAP deficiency</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/38247114">Guidelines for the diagnosis and management of adult aplastic anaemia: A British Society for Haematology Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kulasekararaj A,
Cavenagh J,
Dokal I,
Foukaneli T,
Gandhi S,
Garg M,
Griffin M,
Hillmen P,
Ireland R,
Killick S,
Mansour S,
Mufti G,
Potter V,
Snowden J,
Stanworth S,
Zuha R,
Marsh J;
BSH Committee</span><br />
<span class="medgenPMjournal">Br J Haematol</span>
2024 Mar;204(3):784-804.
Epub 2024 Jan 21
doi: 10.1111/bjh.19236.
<span class="bold">PMID: </span><a href="/pubmed/38247114" target="_blank">38247114</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37821195">Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grim A,
Veiga KR,
Saad N</span><br />
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
2023 Nov;49(4):773-787.
Epub 2023 Aug 1
doi: 10.1016/j.rdc.2023.06.004.
<span class="bold">PMID: </span><a href="/pubmed/37821195" target="_blank">37821195</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27903528">Consensus guidelines for the diagnosis and management of patients with classic hairy cell leukemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grever MR,
Abdel-Wahab O,
Andritsos LA,
Banerji V,
Barrientos J,
Blachly JS,
Call TG,
Catovsky D,
Dearden C,
Demeter J,
Else M,
Forconi F,
Gozzetti A,
Ho AD,
Johnston JB,
Jones J,
Juliusson G,
Kraut E,
Kreitman RJ,
Larratt L,
Lauria F,
Lozanski G,
Montserrat E,
Parikh SA,
Park JH,
Polliack A,
Quest GR,
Rai KR,
Ravandi F,
Robak T,
Saven A,
Seymour JF,
Tadmor T,
Tallman MS,
Tam C,
Tiacci E,
Troussard X,
Zent CS,
Zenz T,
Zinzani PL,
Falini B</span><br />
<span class="medgenPMjournal">Blood</span>
2017 Feb 2;129(5):553-560.
Epub 2016 Nov 30
doi: 10.1182/blood-2016-01-689422.
<span class="bold">PMID: </span><a href="/pubmed/27903528" target="_blank">27903528</a><a href="/pmc/articles/PMC5290982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pancytopenia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (192)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/34626358">Current Management and New Developments in the Treatment of Myelodysplastic Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arslan S,
Khaled S,
Nakamura R</span><br />
<span class="medgenPMjournal">Cancer Treat Res</span>
2021;181:115-132.
doi: 10.1007/978-3-030-78311-2_7.
<span class="bold">PMID: </span><a href="/pubmed/34626358" target="_blank">34626358</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30988043">Low-dose methotrexate toxicity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pivovarov K,
Zipursky JS</span><br />
<span class="medgenPMjournal">CMAJ</span>
2019 Apr 15;191(15):E423.
doi: 10.1503/cmaj.181054.
<span class="bold">PMID: </span><a href="/pubmed/30988043" target="_blank">30988043</a><a href="/pmc/articles/PMC6464879" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30670443">MDS overlap disorders and diagnostic boundaries.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka TN,
Bejar R</span><br />
<span class="medgenPMjournal">Blood</span>
2019 Mar 7;133(10):1086-1095.
Epub 2019 Jan 22
doi: 10.1182/blood-2018-10-844670.
<span class="bold">PMID: </span><a href="/pubmed/30670443" target="_blank">30670443</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23978714">Non-cirrhotic portal hypertension - diagnosis and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna R,
Sarin SK</span><br />
<span class="medgenPMjournal">J Hepatol</span>
2014 Feb;60(2):421-41.
Epub 2013 Aug 23
doi: 10.1016/j.jhep.2013.08.013.
<span class="bold">PMID: </span><a href="/pubmed/23978714" target="_blank">23978714</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22740453">Revised international prognostic scoring system for myelodysplastic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Greenberg PL,
Tuechler H,
Schanz J,
Sanz G,
Garcia-Manero G,
Solé F,
Bennett JM,
Bowen D,
Fenaux P,
Dreyfus F,
Kantarjian H,
Kuendgen A,
Levis A,
Malcovati L,
Cazzola M,
Cermak J,
Fonatsch C,
Le Beau MM,
Slovak ML,
Krieger O,
Luebbert M,
Maciejewski J,
Magalhaes SM,
Miyazaki Y,
Pfeilstöcker M,
Sekeres M,
Sperr WR,
Stauder R,
Tauro S,
Valent P,
Vallespi T,
van de Loosdrecht AA,
Germing U,
Haase D</span><br />
<span class="medgenPMjournal">Blood</span>
2012 Sep 20;120(12):2454-65.
Epub 2012 Jun 27
doi: 10.1182/blood-2012-03-420489.
<span class="bold">PMID: </span><a href="/pubmed/22740453" target="_blank">22740453</a><a href="/pmc/articles/PMC4425443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pancytopenia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1524)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32044946">Such Promise.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Newman H</span><br />
<span class="medgenPMjournal">JAMA</span>
2020 Feb 11;323(6):511-512.
doi: 10.1001/jama.2020.0252.
<span class="bold">PMID: </span><a href="/pubmed/32044946" target="_blank">32044946</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29555368">Approach to pancytopenia: Diagnostic algorithm for clinical hematologists.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gnanaraj J,
Parnes A,
Francis CW,
Go RS,
Takemoto CM,
Hashmi SK</span><br />
<span class="medgenPMjournal">Blood Rev</span>
2018 Sep;32(5):361-367.
Epub 2018 Mar 5
doi: 10.1016/j.blre.2018.03.001.
<span class="bold">PMID: </span><a href="/pubmed/29555368" target="_blank">29555368</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28598057">Macrophage Activation Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Raj PB,
Harikrishnan BL,
Mampilly R,
Anand R</span><br />
<span class="medgenPMjournal">J Assoc Physicians India</span>
2017 May;65(5):91-92.
<span class="bold">PMID: </span><a href="/pubmed/28598057" target="_blank">28598057</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27071434">Carbimazole-induced pancytopaenia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Psomadakis C,
Creamer A,
Baynes C</span><br />
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
2016 Apr;77(4):248-9.
doi: 10.12968/hmed.2016.77.4.248.
<span class="bold">PMID: </span><a href="/pubmed/27071434" target="_blank">27071434</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3059522">Nontropical idiopathic splenomegaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wohlgemuth SD,
Clifford TG Jr</span><br />
<span class="medgenPMjournal">South Med J</span>
1988 Dec;81(12):1569-70.
doi: 10.1097/00007611-198812000-00025.
<span class="bold">PMID: </span><a href="/pubmed/3059522" target="_blank">3059522</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pancytopenia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3158)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39603678">Bupropion-induced pancytopenia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JL,
Chercover D,
Masoudi H,
Foltz L</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2024 Nov 26;17(11)
doi: 10.1136/bcr-2024-262831.
<span class="bold">PMID: </span><a href="/pubmed/39603678" target="_blank">39603678</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36084655">Cannabis-Induced Pancytopenia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tyagi P,
Garg S,
Khattri S,
Tejan V,
Tikka SK</span><br />
<span class="medgenPMjournal">Prim Care Companion CNS Disord</span>
2022 Sep 6;24(5)
doi: 10.4088/PCC.21cr03155.
<span class="bold">PMID: </span><a href="/pubmed/36084655" target="_blank">36084655</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30670443">MDS overlap disorders and diagnostic boundaries.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka TN,
Bejar R</span><br />
<span class="medgenPMjournal">Blood</span>
2019 Mar 7;133(10):1086-1095.
Epub 2019 Jan 22
doi: 10.1182/blood-2018-10-844670.
<span class="bold">PMID: </span><a href="/pubmed/30670443" target="_blank">30670443</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27071434">Carbimazole-induced pancytopaenia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Psomadakis C,
Creamer A,
Baynes C</span><br />
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
2016 Apr;77(4):248-9.
doi: 10.12968/hmed.2016.77.4.248.
<span class="bold">PMID: </span><a href="/pubmed/27071434" target="_blank">27071434</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26016000">“Atypical” macrophages.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bloch J,
Blum S</span><br />
<span class="medgenPMjournal">Blood</span>
2015 Apr 2;125(14):2305.
doi: 10.1182/blood-2015-01-620195.
<span class="bold">PMID: </span><a href="/pubmed/26016000" target="_blank">26016000</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pancytopenia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2873)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/28314811">Fulminant tracheobronchial aspergillosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thakur LK,
Jha KK,
Jha S,
Jha A</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2017 Mar 17;2017
doi: 10.1136/bcr-2016-219127.
<span class="bold">PMID: </span><a href="/pubmed/28314811" target="_blank">28314811</a><a href="/pmc/articles/PMC5372124" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26016000">“Atypical” macrophages.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bloch J,
Blum S</span><br />
<span class="medgenPMjournal">Blood</span>
2015 Apr 2;125(14):2305.
doi: 10.1182/blood-2015-01-620195.
<span class="bold">PMID: </span><a href="/pubmed/26016000" target="_blank">26016000</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22740453">Revised international prognostic scoring system for myelodysplastic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Greenberg PL,
Tuechler H,
Schanz J,
Sanz G,
Garcia-Manero G,
Solé F,
Bennett JM,
Bowen D,
Fenaux P,
Dreyfus F,
Kantarjian H,
Kuendgen A,
Levis A,
Malcovati L,
Cazzola M,
Cermak J,
Fonatsch C,
Le Beau MM,
Slovak ML,
Krieger O,
Luebbert M,
Maciejewski J,
Magalhaes SM,
Miyazaki Y,
Pfeilstöcker M,
Sekeres M,
Sperr WR,
Stauder R,
Tauro S,
Valent P,
Vallespi T,
van de Loosdrecht AA,
Germing U,
Haase D</span><br />
<span class="medgenPMjournal">Blood</span>
2012 Sep 20;120(12):2454-65.
Epub 2012 Jun 27
doi: 10.1182/blood-2012-03-420489.
<span class="bold">PMID: </span><a href="/pubmed/22740453" target="_blank">22740453</a><a href="/pmc/articles/PMC4425443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16844525">Griscelli syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Malhotra AK,
Bhaskar G,
Nanda M,
Kabra M,
Singh MK,
Ramam M</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2006 Aug;55(2):337-40.
doi: 10.1016/j.jaad.2005.11.1056.
<span class="bold">PMID: </span><a href="/pubmed/16844525" target="_blank">16844525</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15660498">Myelodysplastic syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hofmann WK,
Koeffler HP</span><br />
<span class="medgenPMjournal">Annu Rev Med</span>
2005;56:1-16.
doi: 10.1146/annurev.med.56.082103.104704.
<span class="bold">PMID: </span><a href="/pubmed/15660498" target="_blank">15660498</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pancytopenia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1662)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36542832">Differential diagnosis of bone marrow failure syndromes guided by machine learning.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gutierrez-Rodrigues F,
Munger E,
Ma X,
Groarke EM,
Tang Y,
Patel BA,
Catto LFB,
Clé DV,
Niewisch MR,
Alves-Paiva RM,
Donaires FS,
Pinto AL,
Borges G,
Santana BA,
McReynolds LJ,
Giri N,
Altintas B,
Fan X,
Shalhoub R,
Siwy CM,
Diamond C,
Raffo DQ,
Craft K,
Kajigaya S,
Summers RM,
Liu P,
Cunningham L,
Hickstein DD,
Dunbar CE,
Pasquini R,
De Oliveira MM,
Velloso EDRP,
Alter BP,
Savage SA,
Bonfim C,
Wu CO,
Calado RT,
Young NS</span><br />
<span class="medgenPMjournal">Blood</span>
2023 Apr 27;141(17):2100-2113.
doi: 10.1182/blood.2022017518.
<span class="bold">PMID: </span><a href="/pubmed/36542832" target="_blank">36542832</a><a href="/pmc/articles/PMC10163315" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33197413">Hepatitis-Associated Aplastic Anemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alshaibani A,
Dufour C,
Risitano A,
de Latour R,
Aljurf M</span><br />
<span class="medgenPMjournal">Hematol Oncol Stem Cell Ther</span>
2022 Jun 1;15(2):8-12.
doi: 10.1016/j.hemonc.2020.10.001.
<span class="bold">PMID: </span><a href="/pubmed/33197413" target="_blank">33197413</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30032928">Clinico-haematological profile of patients with bicytopenia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Singh A,
Hungund B,
Kumar L,
Pattanshetti M</span><br />
<span class="medgenPMjournal">Pathology</span>
2018 Aug;50(5):540-548.
Epub 2018 Jul 4
doi: 10.1016/j.pathol.2018.03.008.
<span class="bold">PMID: </span><a href="/pubmed/30032928" target="_blank">30032928</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24782338">Development and validation of the HScore, a score for the diagnosis of reactive hemophagocytic syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fardet L,
Galicier L,
Lambotte O,
Marzac C,
Aumont C,
Chahwan D,
Coppo P,
Hejblum G</span><br />
<span class="medgenPMjournal">Arthritis Rheumatol</span>
2014 Sep;66(9):2613-20.
doi: 10.1002/art.38690.
<span class="bold">PMID: </span><a href="/pubmed/24782338" target="_blank">24782338</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22740453">Revised international prognostic scoring system for myelodysplastic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Greenberg PL,
Tuechler H,
Schanz J,
Sanz G,
Garcia-Manero G,
Solé F,
Bennett JM,
Bowen D,
Fenaux P,
Dreyfus F,
Kantarjian H,
Kuendgen A,
Levis A,
Malcovati L,
Cazzola M,
Cermak J,
Fonatsch C,
Le Beau MM,
Slovak ML,
Krieger O,
Luebbert M,
Maciejewski J,
Magalhaes SM,
Miyazaki Y,
Pfeilstöcker M,
Sekeres M,
Sperr WR,
Stauder R,
Tauro S,
Valent P,
Vallespi T,
van de Loosdrecht AA,
Germing U,
Haase D</span><br />
<span class="medgenPMjournal">Blood</span>
2012 Sep 20;120(12):2454-65.
Epub 2012 Jun 27
doi: 10.1182/blood-2012-03-420489.
<span class="bold">PMID: </span><a href="/pubmed/22740453" target="_blank">22740453</a><a href="/pmc/articles/PMC4425443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pancytopenia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1052)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/37709654">Androgen use in bone marrow failures and myeloid neoplasms: Mechanisms of action and a systematic review of clinical data.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bosi A,
Barcellini W,
Passamonti F,
Fattizzo B</span><br />
<span class="medgenPMjournal">Blood Rev</span>
2023 Nov;62:101132.
Epub 2023 Sep 9
doi: 10.1016/j.blre.2023.101132.
<span class="bold">PMID: </span><a href="/pubmed/37709654" target="_blank">37709654</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35486323">Methotrexate Cutaneous Ulceration: A Systematic Review of Cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Berna R,
Rosenbach M,
Margolis DJ,
Mitra N,
Baumrin E</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2022 Jul;23(4):449-457.
Epub 2022 Apr 29
doi: 10.1007/s40257-022-00692-1.
<span class="bold">PMID: </span><a href="/pubmed/35486323" target="_blank">35486323</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33108965">Rare association of consumptive coagulopathy in visceral leishmaniasis: A case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">de Santana Ferreira E,
de Souza Júnior VR,
de Oliveira JFS,
Costa MFH,
da Conceição de Barros Correia M,
de Sá AF</span><br />
<span class="medgenPMjournal">Trop Doct</span>
2021 Jan;51(1):120-122.
Epub 2020 Oct 27
doi: 10.1177/0049475520967239.
<span class="bold">PMID: </span><a href="/pubmed/33108965" target="_blank">33108965</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28063304">Splenic irradiation for splenomegaly: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zaorsky NG,
Williams GR,
Barta SK,
Esnaola NF,
Kropf PL,
Hayes SB,
Meyer JE</span><br />
<span class="medgenPMjournal">Cancer Treat Rev</span>
2017 Feb;53:47-52.
Epub 2016 Dec 22
doi: 10.1016/j.ctrv.2016.11.016.
<span class="bold">PMID: </span><a href="/pubmed/28063304" target="_blank">28063304</a><a href="/pmc/articles/PMC7537354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18368407">Polyarteritis nodosa presenting as pancytopenia: case report and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harrold LR,
Liu NY</span><br />
<span class="medgenPMjournal">Rheumatol Int</span>
2008 Aug;28(10):1049-51.
Epub 2008 Mar 27
doi: 10.1007/s00296-008-0572-1.
<span class="bold">PMID: </span><a href="/pubmed/18368407" target="_blank">18368407</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pancytopenia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div></div>
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<li><a href="/gtr/tests?term=C0030312%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
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