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1210 lines
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149 KiB
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<!--
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||
UID=10231
|
||
ConceptID=C0026985
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myelodysplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10231</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) Click for more information.">C0026985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Familial Myelodysplasia</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002863">HP:0002863</a></td></tr>
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<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">Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<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>
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<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><li><a href="#tabORDO">Orphanet</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=C0026985[DISCUI]&test_type=Clinical" ref="ncbi_uid=10231">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&from_uid=10231" ref="ncbi_uid=10231">V</a></span></span><span class="TLline">Myelodysplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/208860" ref="tree=MeSH" title="MedGen record for Hematopoietic and Lymphatic System Disorder">Hematopoietic and Lymphatic System Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/5483" ref="tree=MeSH" title="MedGen record for Hematologic disorder">Hematologic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/138213" ref="tree=MeSH" title="MedGen record for Hematologic neoplasm">Hematologic neoplasm</a></span><ul><li><span class="matched_ds">Myelodysplasia</span><ul><li><span class="TLline"><a href="/medgen/868621" ref="tree=MeSH" title="MedGen record for Bilineage myelodysplasia">Bilineage myelodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/868622" ref="tree=MeSH" title="MedGen record for Multiple lineage myelodysplasia">Multiple lineage myelodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/868620" ref="tree=MeSH" title="MedGen record for Single lineage myelodysplasia">Single lineage myelodysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/220394" ref="tree=MeSH" title="MedGen record for Refractory anemia with ringed sideroblasts">Refractory anemia with ringed sideroblasts</a></span><ul><li><span class="TLline"><a href="/medgen/226982" ref="tree=MeSH" title="MedGen record for Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia">Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1378167" ref="tree=MeSH" title="MedGen record for Myelodysplastic Syndrome with Ring Sideroblasts and Single Lineage Dysplasia">Myelodysplastic Syndrome with Ring Sideroblasts and Single Lineage Dysplasia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=10703&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Myelodysplasia</span> in Orphanet.</div></div></div>
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</div>
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<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_19351"><div><strong>Storage pool disease of platelets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19351</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) Click for more information.">C0032197</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19351">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_12147"><div><strong>Werner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12147</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) Click for more information."><span class="highlight" style="background-color:">C0043119</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12147">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_154252"><div><strong>Hereditary neutrophilia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154252</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) Click for more information.">C0543669</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154252">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_108433"><div><strong>Acquired hemoglobin H disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108433</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) Click for more information.">C0585216</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108433">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_196625"><div><strong>Myelodysplastic syndrome associated with isolated del(5q)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196625</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) Click for more information.">C0740302</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196625">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) 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_321945"><div><strong>Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321945</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) Click for more information.">C1832388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RUNX1 familial platelet disorder with associated myeloid malignancies (RUNX1-FPDMM) is characterized by prolonged bleeding and/or easy bruising and an increased risk of developing a hematologic malignancy. RUNX1-FPDMM is characterized by thrombocytopenia with normal platelet size; bleeding is often greater than expected due to qualitative platelet dysfunction. Myeloid malignancies are the most common, including acute myelogenous leukemia and myelodysplastic syndrome. T- and B-cell acute lymphoblastic leukemias and lymphomas have also been reported, as well as skin manifestations (e.g., eczema, psoriasis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/321945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_330847"><div><strong>Hyper-IgM syndrome type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330847</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) Click for more information.">C1842413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process (summary by Imai et al., 2003). For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330847">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) 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_381529"><div><strong>Monosomy 7 myelodysplasia and leukemia syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381529</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) Click for more information.">C1854978</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-1 (M7MLS1) is an autosomal dominant hematologic disorder with highly variable manifestations. Most patients present in early childhood with pancytopenia and dyspoietic or dysplastic changes in the bone marrow. These abnormalities are almost always associated with monosomy 7 in the bone marrow. In severely affected individuals, the phenotype progresses to frank myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML). Less severely affected individuals may have transient thrombocytopenia or anemia, or have normal peripheral blood counts with transient bone marrow abnormalities or transient monosomy 7. Germline mutations in the SAMD9L 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). Monosomy 7 or partial deletion of the long arm of chromosome 7 (7q-) is a frequent cytogenetic finding in the bone marrow of patients with myelodysplasia and acute myelogenous leukemia. Furthermore, monosomy 7 or 7q- is the most frequent abnormality of karyotype in cases of AML that occur after cytotoxic cancer therapy or occupational exposure to mutagens. The age distribution of de novo cases shows peaks in the first and fifth decades. Monosomy 7 is found in about 5% of de novo and 40% of secondary cases of AML. These findings suggest that loss of certain genes at this region is an important event in the development of myelodysplasia (summary by Shannon et al., 1989). Genetic Heterogeneity of Monosomy 7 Myelodysplastic and Leukemia Syndrome See also M7MLS2 (619041), caused by germline mutation in the SAMD9 gene (610457) on chromosome 7q21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381529">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390966"><div><strong>Diamond-Blackfan anemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390966</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) Click for more information.">C2676137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/390966">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) 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_481660"><div><strong>Monocytopenia with susceptibility to infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481660</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) Click for more information.">C3280030</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Some patients may have an increased risk of miscarriage. Both autosomal dominant transmission and sporadic cases occur. Less common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome' (614038) (summary by Bigley et al. (2011), Hsu et al. (2011), and Spinner et al. (2014)).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481660">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483005"><div><strong>Myelodysplastic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483005</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) Click for more information.">C3463824</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483005">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854017"><div><strong>Fanconi anemia complementation group G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854017</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) Click for more information.">C3469527</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/854017">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) 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_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) 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). Genetic Heterogeneity of Bone Marrow Failure Syndrome 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_895780"><div><strong>DDX41-related hematologic malignancy predisposition syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895780</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) Click for more information.">C4225174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DDX41-associated familial myelodysplastic syndrome and acute myeloid leukemia (MDS/AML) is characterized by an increased risk of myeloid neoplasms, lymphoid neoplasms, adult-onset single- or multiple-lineage cytopenias (including aplastic anemia), and red blood cell macrocytosis. The most common myeloid neoplasms include MDS, AML, and therapy-related myeloid neoplasms. Chronic myelomonocytic leukemia, chronic myeloid leukemia, and myeloproliferative neoplasms are less common. Lymphoid neoplasms include non-Hodgkin lymphoma, Hodgkin lymphoma, multiple myeloma, chronic lymphocytic leukemia, and acute lymphoblastic leukemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895780">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924576"><div><strong>MIRAGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924576</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) Click for more information.">C4284088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924576">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1371952"><div><strong>Specific granule deficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1371952</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) Click for more information.">C4479548</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Specific granule deficiency-2 (SGD2) is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects (Witzel et al., 2017). For a discussion of genetic heterogeneity of SGD, see SGD1 (245480).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1371952">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1621245"><div><strong>Fanconi anemia, complementation group W</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621245</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) Click for more information.">C4521564</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/1621245">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645250"><div><strong>Dyskeratosis congenita, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645250</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) Click for more information.">C4551974</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/1645250">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) 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_1713491"><div><strong>Kostmann syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1713491</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) Click for more information.">C5235141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010). The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes. In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (257100), Chediak-Higashi syndrome (214500), and Fanconi pancytopenic syndrome (see 227650). For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1713491">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1765785"><div><strong>VEXAS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1765785</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) Click for more information.">C5435753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is an adult-onset inflammatory disease that primarily affects males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death (summary by Beck et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1765785">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) 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). 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_1754257"><div><strong>AMED syndrome, digenic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1754257</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) Click for more information.">C5436906</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">AMED syndrome (AMEDS) is an autosomal recessive digenic multisystem disorder characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome (MDS) in childhood, and poor overall growth with short stature (summary by Oka et al., 2020). For a discussion of genetic heterogeneity of bone marrow failure syndrome (BMFS), see BMFS1 (614675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1754257">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799555"><div><strong>Combined immunodeficiency due to GINS1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799555</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) Click for more information.">C5568132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799555">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) 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_1804234"><div><strong>Tessadori-Van Haaften neurodevelopmental syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804234</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) Click for more information.">C5677016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-4 (TEBIVANED4) is characterized by global developmental delay with poor overall growth, variably impaired intellectual development, learning difficulties, distal skeletal anomalies, and dysmorphic facies. Some patients have visual or hearing deficits. The severity and manifestations of the disorder are highly variable (Tessadori et al., 2022). For a discussion of genetic heterogeneity of TEBIVANED, see TEBIVANED1 (619758).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804234">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841121"><div><strong>Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841121</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) Click for more information.">C5830485</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/1841121">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1859911"><div><strong>Immunodeficiency 119</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1859911</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) Click for more information.">C5935621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-119 (IMD119) is an autosomal recessive immunologic disorder characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. Laboratory studies show hypogammaglobulinemia, lymphopenia, reduced memory B cells, and neutropenia, resulting in altered adaptive immunity (Roussel et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1859911">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_108433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acquired hemoglobin H disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1754257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">AMED syndrome, digenic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_814883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant aplasia and myelodysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to GINS1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DDX41-related hematologic malignancy predisposition syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (32)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481294" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deafness-lymphedema-leukemia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DNA ligase IV deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645250" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 1</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_854017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group G</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1621245" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia, complementation group W</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_154252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary neutrophilia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_321945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330847" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyper-IgM syndrome type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1859911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 119</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1713491" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kostmann syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924576" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MIRAGE syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Monocytopenia with susceptibility to infections</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381529" 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 1</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_483005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myelodysplastic syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_196625" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myelodysplastic syndrome associated with isolated del(5q)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841121" 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 syndrome, telomere-related, 7</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_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_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_1371952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Specific granule deficiency 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_19351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Storage pool disease of platelets</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tessadori-Van Haaften neurodevelopmental syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1765785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VEXAS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_12147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Werner syndrome</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/37236870">French practical guidelines for the diagnosis and management of relapsing polychondritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnaud L,
|
||
Costedoat-Chalumeau N,
|
||
Mathian A,
|
||
Sailler L,
|
||
Belot A,
|
||
Dion J,
|
||
Morel N,
|
||
Moulis G;
|
||
Collaborators</span><br />
|
||
<span class="medgenPMjournal">Rev Med Interne</span>
|
||
2023 Jun;44(6):282-294.
|
||
Epub 2023 May 24
|
||
doi: 10.1016/j.revmed.2023.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37236870" target="_blank">37236870</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32619069">Aplastic anaemia: Current concepts in diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Furlong E,
|
||
Carter T</span><br />
|
||
<span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
2020 Jul;56(7):1023-1028.
|
||
Epub 2020 Jul 3
|
||
doi: 10.1111/jpc.14996.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32619069" target="_blank">32619069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25753400">Pathophysiology, diagnosis, and treatment of paroxysmal nocturnal hemoglobinuria: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devalet B,
|
||
Mullier F,
|
||
Chatelain B,
|
||
Dogné JM,
|
||
Chatelain C</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2015 Sep;95(3):190-8.
|
||
Epub 2015 Mar 26
|
||
doi: 10.1111/ejh.12543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25753400" target="_blank">25753400</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22myelodysplasia%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 (217)</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/36537621">Multiparameter flow cytometry in the evaluation of myelodysplasia: Analytical issues: Recommendations from the European LeukemiaNet/International Myelodysplastic Syndrome Flow Cytometry Working Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Porwit A,
|
||
Béné MC,
|
||
Duetz C,
|
||
Matarraz S,
|
||
Oelschlaegel U,
|
||
Westers TM,
|
||
Wagner-Ballon O,
|
||
Kordasti S,
|
||
Valent P,
|
||
Preijers F,
|
||
Alhan C,
|
||
Bellos F,
|
||
Bettelheim P,
|
||
Burbury K,
|
||
Chapuis N,
|
||
Cremers E,
|
||
Della Porta MG,
|
||
Dunlop A,
|
||
Eidenschink-Brodersen L,
|
||
Font P,
|
||
Fontenay M,
|
||
Hobo W,
|
||
Ireland R,
|
||
Johansson U,
|
||
Loken MR,
|
||
Ogata K,
|
||
Orfao A,
|
||
Psarra K,
|
||
Saft L,
|
||
Subira D,
|
||
Te Marvelde J,
|
||
Wells DA,
|
||
van der Velden VHJ,
|
||
Kern W,
|
||
van de Loosdrecht AA</span><br />
|
||
<span class="medgenPMjournal">Cytometry B Clin Cytom</span>
|
||
2023 Jan;104(1):27-50.
|
||
Epub 2022 Dec 20
|
||
doi: 10.1002/cyto.b.22108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36537621" target="_blank">36537621</a><a href="/pmc/articles/PMC10107708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36264379">The International Consensus Classification of acute myeloid leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weinberg OK,
|
||
Porwit A,
|
||
Orazi A,
|
||
Hasserjian RP,
|
||
Foucar K,
|
||
Duncavage EJ,
|
||
Arber DA</span><br />
|
||
<span class="medgenPMjournal">Virchows Arch</span>
|
||
2023 Jan;482(1):27-37.
|
||
Epub 2022 Oct 20
|
||
doi: 10.1007/s00428-022-03430-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36264379" target="_blank">36264379</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32722092">AML with Myelodysplasia-Related Changes: Development, Challenges, and Treatment Advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koenig KL,
|
||
Sahasrabudhe KD,
|
||
Sigmund AM,
|
||
Bhatnagar B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2020 Jul 24;11(8)
|
||
doi: 10.3390/genes11080845.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32722092" target="_blank">32722092</a><a href="/pmc/articles/PMC7464320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16047374">Shwachman-Diamond syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dror Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2005 Dec;45(7):892-901.
|
||
doi: 10.1002/pbc.20478.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16047374" target="_blank">16047374</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2672599">Myelodysplastic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Doll DC,
|
||
List AF</span><br />
|
||
<span class="medgenPMjournal">West J Med</span>
|
||
1989 Aug;151(2):161-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2672599" target="_blank">2672599</a><a href="/pmc/articles/PMC1026906" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelodysplasia%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 (1483)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37236870">French practical guidelines for the diagnosis and management of relapsing polychondritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnaud L,
|
||
Costedoat-Chalumeau N,
|
||
Mathian A,
|
||
Sailler L,
|
||
Belot A,
|
||
Dion J,
|
||
Morel N,
|
||
Moulis G;
|
||
Collaborators</span><br />
|
||
<span class="medgenPMjournal">Rev Med Interne</span>
|
||
2023 Jun;44(6):282-294.
|
||
Epub 2023 May 24
|
||
doi: 10.1016/j.revmed.2023.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37236870" target="_blank">37236870</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36264379">The International Consensus Classification of acute myeloid leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weinberg OK,
|
||
Porwit A,
|
||
Orazi A,
|
||
Hasserjian RP,
|
||
Foucar K,
|
||
Duncavage EJ,
|
||
Arber DA</span><br />
|
||
<span class="medgenPMjournal">Virchows Arch</span>
|
||
2023 Jan;482(1):27-37.
|
||
Epub 2022 Oct 20
|
||
doi: 10.1007/s00428-022-03430-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36264379" target="_blank">36264379</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32722092">AML with Myelodysplasia-Related Changes: Development, Challenges, and Treatment Advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koenig KL,
|
||
Sahasrabudhe KD,
|
||
Sigmund AM,
|
||
Bhatnagar B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2020 Jul 24;11(8)
|
||
doi: 10.3390/genes11080845.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32722092" target="_blank">32722092</a><a href="/pmc/articles/PMC7464320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31779836">Pediatric Neuromuscular Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michel C,
|
||
Collins C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2020 Feb;67(1):45-57.
|
||
doi: 10.1016/j.pcl.2019.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31779836" target="_blank">31779836</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16047374">Shwachman-Diamond syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dror Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2005 Dec;45(7):892-901.
|
||
doi: 10.1002/pbc.20478.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16047374" target="_blank">16047374</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelodysplasia%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 (1232)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38589717">Could it be VEXAS?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerineau H,
|
||
Kohn M,
|
||
Al Hamoud A,
|
||
Sellier J,
|
||
Osman J,
|
||
Cabannes-Hamy A</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2024 Jun;103(6):2169-2171.
|
||
Epub 2024 Apr 9
|
||
doi: 10.1007/s00277-024-05750-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38589717" target="_blank">38589717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37236870">French practical guidelines for the diagnosis and management of relapsing polychondritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnaud L,
|
||
Costedoat-Chalumeau N,
|
||
Mathian A,
|
||
Sailler L,
|
||
Belot A,
|
||
Dion J,
|
||
Morel N,
|
||
Moulis G;
|
||
Collaborators</span><br />
|
||
<span class="medgenPMjournal">Rev Med Interne</span>
|
||
2023 Jun;44(6):282-294.
|
||
Epub 2023 May 24
|
||
doi: 10.1016/j.revmed.2023.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37236870" target="_blank">37236870</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33724305">Older adults with newly diagnosed high-risk/secondary AML who achieved remission with CPX-351: phase 3 post hoc analyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin TL,
|
||
Rizzieri DA,
|
||
Ryan DH,
|
||
Schiller GJ,
|
||
Kolitz JE,
|
||
Uy GL,
|
||
Hogge DE,
|
||
Solomon SR,
|
||
Wieduwilt MJ,
|
||
Ryan RJ,
|
||
Faderl S,
|
||
Cortes JE,
|
||
Lancet JE</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2021 Mar 23;5(6):1719-1728.
|
||
doi: 10.1182/bloodadvances.2020003510.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33724305" target="_blank">33724305</a><a href="/pmc/articles/PMC7993093" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32722092">AML with Myelodysplasia-Related Changes: Development, Challenges, and Treatment Advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koenig KL,
|
||
Sahasrabudhe KD,
|
||
Sigmund AM,
|
||
Bhatnagar B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2020 Jul 24;11(8)
|
||
doi: 10.3390/genes11080845.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32722092" target="_blank">32722092</a><a href="/pmc/articles/PMC7464320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31547736">CPX-351 (vyxeos) in AML.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alfayez M,
|
||
Kantarjian H,
|
||
Kadia T,
|
||
Ravandi-Kashani F,
|
||
Daver N</span><br />
|
||
<span class="medgenPMjournal">Leuk Lymphoma</span>
|
||
2020 Feb;61(2):288-297.
|
||
Epub 2019 Sep 24
|
||
doi: 10.1080/10428194.2019.1660970.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31547736" target="_blank">31547736</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelodysplasia%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 (1195)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37865502">Molecular Techniques and Gene Mutations in Myelodysplastic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mendoza H,
|
||
Siddon AJ</span><br />
|
||
<span class="medgenPMjournal">Clin Lab Med</span>
|
||
2023 Dec;43(4):549-563.
|
||
Epub 2023 Aug 5
|
||
doi: 10.1016/j.cll.2023.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37865502" target="_blank">37865502</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33775615">Myeloablative versus Reduced-Intensity Conditioning for Hematopoietic Cell Transplantation in Acute Myelogenous Leukemia and Myelodysplastic Syndromes-Long-Term Follow-Up of the BMT CTN 0901 Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scott BL,
|
||
Pasquini MC,
|
||
Fei M,
|
||
Fraser R,
|
||
Wu J,
|
||
Devine SM,
|
||
Porter DL,
|
||
Maziarz RT,
|
||
Warlick E,
|
||
Fernandez HF,
|
||
Soiffer RJ,
|
||
Alyea E,
|
||
Hamadani M,
|
||
Bashey A,
|
||
Giralt S,
|
||
Geller NL,
|
||
Leifer E,
|
||
Hourigan CS,
|
||
Gui G,
|
||
Mendizabal A,
|
||
Horowitz MM,
|
||
Deeg HJ,
|
||
Horwitz ME</span><br />
|
||
<span class="medgenPMjournal">Transplant Cell Ther</span>
|
||
2021 Jun;27(6):483.e1-483.e6.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1016/j.jtct.2021.02.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33775615" target="_blank">33775615</a><a href="/pmc/articles/PMC8217373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12637927">Hydroxyurea-induced dermatomyositis-like eruption.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dacey MJ,
|
||
Callen JP</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2003 Mar;48(3):439-41.
|
||
doi: 10.1067/mjd.2003.74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12637927" target="_blank">12637927</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9039731">Paediatric myelodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Passmore SJ,
|
||
Hann IM</span><br />
|
||
<span class="medgenPMjournal">Br Med Bull</span>
|
||
1996 Oct;52(4):778-86.
|
||
doi: 10.1093/oxfordjournals.bmb.a011582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9039731" target="_blank">9039731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1621320">Complications of enterocystoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khoury JM,
|
||
Timmons SL,
|
||
Corbel L,
|
||
Webster GD</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
1992 Jul;40(1):9-14.
|
||
doi: 10.1016/0090-4295(92)90428-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1621320" target="_blank">1621320</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelodysplasia%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 (1175)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38996210">Risk prediction for clonal cytopenia: multicenter real-world evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie Z,
|
||
Komrokji R,
|
||
Al Ali N,
|
||
Regelson A,
|
||
Geyer S,
|
||
Patel A,
|
||
Saygin C,
|
||
Zeidan AM,
|
||
Bewersdorf JP,
|
||
Mendez L,
|
||
Kishtagari A,
|
||
Zeidner JF,
|
||
Coombs CC,
|
||
Madanat YF,
|
||
Chung S,
|
||
Badar T,
|
||
Foran J,
|
||
Desai P,
|
||
Tsai C,
|
||
Griffiths EA,
|
||
Al Malki MM,
|
||
Amanam I,
|
||
Lai C,
|
||
Deeg HJ,
|
||
Ades L,
|
||
Arana Yi C,
|
||
Osman AEG,
|
||
Dinner S,
|
||
Abaza Y,
|
||
Taylor J,
|
||
Chandhok N,
|
||
Soong D,
|
||
Brunner AM,
|
||
Carraway HE,
|
||
Singh A,
|
||
Elena C,
|
||
Ferrari J,
|
||
Gallì A,
|
||
Pozzi S,
|
||
Padron E,
|
||
Patnaik MM,
|
||
Malcovati L,
|
||
Savona MR,
|
||
Al-Kali A</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Nov 7;144(19):2033-2044.
|
||
doi: 10.1182/blood.2024024756.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38996210" target="_blank">38996210</a><a href="/pmc/articles/PMC11561536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37865506">Diagnosis and Classification of Myelodysplastic Syndromes with Mutated TP53.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siddon AJ,
|
||
Weinberg OK</span><br />
|
||
<span class="medgenPMjournal">Clin Lab Med</span>
|
||
2023 Dec;43(4):607-614.
|
||
Epub 2023 Aug 19
|
||
doi: 10.1016/j.cll.2023.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37865506" target="_blank">37865506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36137990">Benefits and Risks in Polypathology and Polypharmacotherapy Challenges in the Era of the Transition of Thalassaemia from a Fatal to a Chronic or Curable Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolnagou A,
|
||
Kleanthous M,
|
||
Kontoghiorghes GJ</span><br />
|
||
<span class="medgenPMjournal">Front Biosci (Elite Ed)</span>
|
||
2022 Jul 12;14(3):18.
|
||
doi: 10.31083/j.fbe1403018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36137990" target="_blank">36137990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19202968">Evaluation of macrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaferle J,
|
||
Strzoda CE</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2009 Feb 1;79(3):203-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19202968" target="_blank">19202968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1621320">Complications of enterocystoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khoury JM,
|
||
Timmons SL,
|
||
Corbel L,
|
||
Webster GD</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
1992 Jul;40(1):9-14.
|
||
doi: 10.1016/0090-4295(92)90428-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1621320" target="_blank">1621320</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelodysplasia%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 (808)</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/31724222">EAU/ESPU guidelines on the management of neurogenic bladder in children and adolescent part I diagnostics and conservative treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stein R,
|
||
Bogaert G,
|
||
Dogan HS,
|
||
Hoen L,
|
||
Kocvara R,
|
||
Nijman RJM,
|
||
Quadackers JSLT,
|
||
Rawashdeh YF,
|
||
Silay MS,
|
||
Tekgul S,
|
||
Radmayr C</span><br />
|
||
<span class="medgenPMjournal">Neurourol Urodyn</span>
|
||
2020 Jan;39(1):45-57.
|
||
Epub 2019 Nov 13
|
||
doi: 10.1002/nau.24211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31724222" target="_blank">31724222</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28160010">The effect of sacral neuromodulation on pregnancy: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahran A,
|
||
Soriano A,
|
||
Safwat AS,
|
||
Hijaz A,
|
||
Mahajan ST,
|
||
Trabuco EC,
|
||
Siegel SW,
|
||
El-Nashar SA</span><br />
|
||
<span class="medgenPMjournal">Int Urogynecol J</span>
|
||
2017 Sep;28(9):1357-1365.
|
||
Epub 2017 Feb 3
|
||
doi: 10.1007/s00192-017-3272-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28160010" target="_blank">28160010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24714374">Initially lymphocytic Sweet's syndrome in male patients with myelodysplasia: a distinguished clinicopathological entity? Case report and systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kakaletsis N,
|
||
Kaiafa G,
|
||
Savopoulos C,
|
||
Iliadis F,
|
||
Perifanis V,
|
||
Tzalokostas V,
|
||
Grekou A,
|
||
Giannouli A,
|
||
Hatzitolios AI</span><br />
|
||
<span class="medgenPMjournal">Acta Haematol</span>
|
||
2014;132(2):220-5.
|
||
doi: 10.1159/000357933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24714374" target="_blank">24714374</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23966105">Oral deferiprone for iron chelation in people with thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fisher SA,
|
||
Brunskill SJ,
|
||
Doree C,
|
||
Chowdhury O,
|
||
Gooding S,
|
||
Roberts DJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Aug 21;2013(8):CD004839.
|
||
doi: 10.1002/14651858.CD004839.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23966105" target="_blank">23966105</a><a href="/pmc/articles/PMC11843083" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22850321">Temozolomide-related idiosyncratic and other uncommon toxicities: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dixit S,
|
||
Baker L,
|
||
Walmsley V,
|
||
Hingorani M</span><br />
|
||
<span class="medgenPMjournal">Anticancer Drugs</span>
|
||
2012 Nov;23(10):1099-106.
|
||
doi: 10.1097/CAD.0b013e328356f5b0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22850321" target="_blank">22850321</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelodysplasia%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 (14)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
||
|
||
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||
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0026985%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026985%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026985%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (15)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0026985%5bDISCUI%5d" target="_blank">See all (26)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Myelodysplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22myelodysplasia%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Myelodysplasia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Myelodysplasia" target="_blank">MedlinePlus</a></li></ul></div>
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<li>
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<a href="/pubmed/clinical?term=Myelodysplasia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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</li>
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<li>
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<a href="/pubmed?term=Myelodysplasia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=10231" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0026985[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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||
</li>
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||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0026985[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=10231" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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