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<meta name="keywords" content="C5779621, absent spleen, agenesis of spleen, anatomical abnormality, aplasia of spleen, asplenia, splenic agenesis, splenic aplasia, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Absence (aplasia) of the spleen." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1830315
|
||
ConceptID=C5779621
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Asplenia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830315</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:">C5779621</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Splenic agenesis; Splenic aplasia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Aplasia of spleen (702624008); Splenic aplasia (702624008); Agenesis of spleen (1003551006); Splenic agenesis (1003551006)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001746">HP:0001746</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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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">Absence (aplasia) of the spleen. [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>
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<div class="portlet mgSection" id="ID_118">
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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></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=C5779621[DISCUI]&test_type=Clinical" ref="ncbi_uid=1830315">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=1830315" ref="ncbi_uid=1830315">V</a></span></span><span class="TLline">Asplenia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/892707" ref="tree=MeSH" title="MedGen record for Abnormality of the lymphatic system">Abnormality of the lymphatic system</a></span><ul><li><span class="TLline"><a href="/medgen/871264" ref="tree=MeSH" title="MedGen record for Abnormality of the spleen">Abnormality of the spleen</a></span><ul><li><span class="TLline"><a href="/medgen/1382891" ref="tree=MeSH" title="MedGen record for Abnormal spleen morphology">Abnormal spleen morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869396" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the spleen">Aplasia/Hypoplasia of the spleen</a></span><ul><li><span class="matched_ds">Asplenia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
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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>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_39125"><div><strong>Polyglandular autoimmune syndrome, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39125</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.">C0085859</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoimmune polyglandular syndrome type I (APS1) is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over long-term follow-up, the development of additional features of APS1 may be observed (Cranston et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39125">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_39126"><div><strong>Polyglandular autoimmune syndrome, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39126</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.">C0085860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by Betterle et al., 2004). See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39126">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_151935"><div><strong>Familial isolated congenital asplenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151935</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.">C0685889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated congenital asplenia (ICAS) is a rare cause of primary immunodeficiency. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome (208530) (summary by Mahlaoui et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/151935">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_237904"><div><strong>Heterotaxy, visceral, 2, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>237904</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.">C1415817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required. For a discussion of genetic heterogeneity of dextro-looped transposition of the great arteries, see 608808.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/237904">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322042"><div><strong>Laterality defects, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322042</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.">C1832813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322042">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333882"><div><strong>Heme oxygenase 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333882</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.">C1841651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heme oxygenase-1 deficiency (HMOX1D) is a rare autosomal recessive disorder with a complex clinical presentation including direct antibody negative hemolytic anemia, low bilirubin, and hyperinflammation (summary by Chau et al., 2020). Other features may include asplenia and nephritis (Radhakrishnan et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333882">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336609"><div><strong>Heterotaxy, visceral, 1, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336609</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.">C1844020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11; HTX13 (621079), caused by mutation in the DAND5 gene (609068) on chromosome 19p13; and HTX14 (621080), caused by mutation in the CIROZ gene (619700) on chromosome 1p36. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/336609">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_350028"><div><strong>Stormorken syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350028</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.">C1861451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/350028">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_356331"><div><strong>Osteocraniostenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356331</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.">C1865639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">FAM111A-related skeletal dysplasias include the milder phenotype of Kenny-Caffey syndrome (KCS) and a more severe lethal phenotype, osteocraniostenosis (OCS). KCS is characterized by proportionate short stature (typically postnatal onset), relative macrocephaly, large anterior fontanel with delayed closure, characteristic facial features, cortical thickening of the long bones with stenosis of the medullary cavity, and ophthalmologic and dental manifestations. OCS is characterized by intrauterine growth deficiency, microcephaly, characteristic facial features, decreased skull ossification, slender long bones with cortical thickening, stenosis of the medullary cavity of the long bones, flared metaphyses, and thin ribs with thoracic and pulmonary hypoplasia leading to respiratory insufficiency. Perinatal fractures may occur. Primary hypoparathyroidism with hypocalcemia and hyperphosphatemia can occur in individuals with KCS and OCS.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/356331">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_411249"><div><strong>Isolated congenital hypoglossia/aglossia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411249</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.">C2748587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported (Faqeih et al., 2008). Hypoglossia is part of a group of malformation syndromes collectively termed 'oromandibular limb hypogenesis syndromes,' that usually include limb defects. Hall (1971) provided a classification system (see 103300). See also agnathia with holoprosencephaly (202650), which shows hypoglossia and situs inversus in addition to severe neurodevelopmental defects.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/411249">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_755478"><div><strong>Alveolar capillary dysplasia with pulmonary venous misalignment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>755478</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.">C2960310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/755478">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_465274"><div><strong>Right atrial isomerism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>465274</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.">C3178806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/465274">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_501198"><div><strong>Heterotaxy, visceral, 5, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501198</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.">C3495537</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/501198">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_811346"><div><strong>Meckel syndrome, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811346</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.">C3714506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/811346">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_811626"><div><strong>Renal-hepatic-pancreatic dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811626</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.">C3715199</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/811626">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815764"><div><strong>Renal-hepatic-pancreatic dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815764</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.">C3809434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Renal-hepatic-pancreatic dysplasia-2 (RHPD2) is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016). For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (208540).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815764">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_860705"><div><strong>Tetraamelia syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>860705</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.">C4012268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Tetraamelia syndrome-1 (TETAMS1) is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndrome Tetraamelia syndrome-2 (TETAMS2; 618021) is caused by mutation in the RSPO2 gene (610575) on chromosome 8q23.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/860705">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1625659"><div><strong>Sweeney-Cox syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1625659</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.">C4540299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1625659">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1637716"><div><strong>Feingold syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637716</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.">C4551774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1637716">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1646059"><div><strong>Kartagener syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646059</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.">C4551906</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). Genetic Heterogeneity of Primary Ciliary Dyskinesia Other forms of primary ciliary dyskinesia include CILD2 (606763), caused by mutation in the DNAAF3 gene (614566) on 19q13; CILD3 (608644), caused by mutation in the DNAH5 gene (603335) on 5p15; CILD4 (608646), mapped to 15q13; CILD5 (608647), caused by mutation in the HYDIN gene (610812) on 16q22; CILD6 (610852), caused by mutation in the TXNDC3 gene (607421) on 7p14; CILD7 (611884), caused by mutation in the DNAH11 gene (603339) on 7p15; CILD8 (612274), mapped to 15q24-q25; CILD9 (612444), caused by mutation in the DNAI2 gene (605483) on 17q25; CILD10 (612518), caused by mutation in the DNAAF2 gene (612517) on 14q21; CILD11 (612649), caused by mutation in the RSPH4A gene (612647) on 6q22; CILD12 (612650), caused by mutation in the RSPH9 gene (612648) on 6p21; CILD13 (613193), caused by mutation in the DNAAF1 gene (613190) on 16q24; CILD14 (613807), caused by mutation in the CCDC39 gene (613798) gene on 3q26; CILD15 (613808), caused by mutation in the CCDC40 gene (613799) on 17q25; CILD16 (614017), caused by mutation in the DNAL1 gene (610062) on 14q24; CILD17 (614679), caused by mutation in the DNAAF19 gene (614677) on 17q21; CILD18 (614874), caused by mutation in the DNAAF5 gene (614864) on 7p22; CILD19 (614935), caused by mutation in the DNAAF11 gene (614930) on 8q24; CILD20 (615067), caused by mutation in the CCDC114 gene (615038) on 19q13; CILD21 (615294), caused by mutation in the DRC1 gene (615288) on 2p23; CILD22 (615444), caused by mutation in the ZMYND10 gene (607070) on 3p21; CILD23 (615451), caused by mutation in the ARMC4 gene (615408) on 10p; CILD24 (615481), caused by mutation in the RSPH1 gene (609314) on 21q22; CILD25 (615482), caused by mutation in the DYX1C1 gene (608706) on 15q21; CILD26 (615500), caused by mutation in the C21ORF59 gene (615494) on 21q22; CILD27 (615504), caused by mutation in the CCDC65 gene (611088) on 12q13; CILD28 (615505), caused by mutation in the SPAG1 gene (603395) on 8q22; CILD29 (615872), caused by mutation in the CCNO gene (607752) on 5q11; CILD30 (616037), caused by mutation in the CCDC151 gene (615956) on 19p13; CILD32 (616481), caused by mutation in the RSPH3 gene (615876) on 6q25; CILD33 (616726), caused by mutation in the GAS8 gene (605178) on 16q24; CILD34 (617091), caused by mutation in the DNAJB13 gene (610263) on 11q13; CILD35 (617092), caused by mutation in the TTC25 gene (617095) on 17q21; CILD36 (300991), caused by mutation in the DNAAF6 gene (300933) on Xq22; CILD37 (617577), caused by mutation in the DNAH1 gene (603332) on 3p21; CILD38 (618063), caused by mutation in the CFAP300 gene (618058) on 11q22; CILD39 (618254), caused by mutation in the LRRC56 gene (618227) on 11p15; CILD40 (618300), caused by mutation in the DNAH9 gene (603330) on 17p12; CILD41 (618449), caused by mutation in the GAS2L2 gene (611398) on 17q12; CILD42 (618695), caused by mutation in the MCIDAS gene (614086) on 5q11; CILD43 (618699), caused by mutation in the FOXJ1 gene (602291) on 17q25; CILD44 (618781), caused by mutation in the NEK10 gene (618726) on 3p24; CILD45 (618801), caused by mutation in the TTC12 gene (610732) on 11q23; CILD46 (619436), caused by mutation in the STK36 gene (607652) on 2q35; CILD47 (619466), caused by mutation in the TP73 gene (601990) on 1p36; CILD48 (620032), caused by mutation in the NME5 gene (603575) on chromosome 5q31; CILD49 (620197), caused by mutation in the CFAP74 gene (620187) on chromosome 1p36; CILD50 (620356), caused by mutation in the DNAH7 gene (610061) on chromosome 2q32; CILD51 (620438), caused by mutation in the BRWD1 gene (617824) on chromosome 21q22; CILD52 (620570), caused by mutation in the DAW1 gene (620279) on chromosome 2q36; and CILD53 (620642), caused by mutation in the CLXN gene (619564) on chromosome 8q11. Ciliary abnormalities have also been reported in association with both X-linked and autosomal forms of retinitis pigmentosa. Mutations in the RPGR gene (312610), which underlie X-linked retinitis pigmentosa (RP3; 300029), are in some instances (e.g., 312610.0016) associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome; see 300455. Afzelius (1979) gave an extensive review of cilia and their disorders. There are also several possibly distinct CILDs described based on the electron microscopic appearance of abnormal cilia, including CILD with transposition of the microtubules (215520), CILD with excessively long cilia (242680), and CILD with defective radial spokes (242670).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1646059">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1717772"><div><strong>Heterotaxy, visceral, 9, autosomal, with male infertility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717772</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.">C5394551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Visceral heterotaxy-9 (HTX9) is an autosomal recessive disorder characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia. Affected males are infertile mainly due to defective sperm motility, whereas affected females do not appear to have fertility problems. The disorder results from impaired function of the embryonic nodal cilia and sperm flagella. However, patients do not have classic respiratory symptoms of primary ciliary dyskinesia (see, e.g., CILD; 244400). The phenotype is highly variable; some affected individuals may be identified incidentally (summary by Ta-Shma et al., 2018 and Leslie et al., 2020). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1717772">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1721861"><div><strong>Cardiofacioneurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1721861</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.">C5436852</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiofacioneurodevelopmental syndrome (CFNDS) is characterized by microcephaly, midline facial defects, developmental delay, and cerebellar hypoplasia. Variable cardiac defects may be present, including atrioventricular canal and ventricular septal defects. Heterotaxy has also been reported (Harel et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1721861">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794252"><div><strong>Congenital heart defects, multiple types, 8, with or without heterotaxy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794252</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.">C5562042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple types of congenital heart defects-8 (CHTD8) is characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation (Zaidi et al., 2013; Granadillo et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794252">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_755478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alveolar capillary dysplasia with pulmonary venous misalignment</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1721861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiofacioneurodevelopmental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital heart defects, multiple types, 8, with or without heterotaxy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_151935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial isolated congenital asplenia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1637716" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feingold syndrome type 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heme oxygenase 1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336609" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 1, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_237904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 2, autosomal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 5, autosomal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1717772" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 9, autosomal, with male infertility</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411249" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated congenital hypoglossia/aglossia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646059" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kartagener syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Laterality defects, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meckel syndrome, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356331" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteocraniostenosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyglandular autoimmune syndrome, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39126" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyglandular autoimmune syndrome, type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal-hepatic-pancreatic dysplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal-hepatic-pancreatic dysplasia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_465274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right atrial isomerism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stormorken syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1625659" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sweeney-Cox syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_860705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetraamelia syndrome 1</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/35690244">Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bjørklund G,
|
||
Pivin M,
|
||
Hangan T,
|
||
Yurkovskaya O,
|
||
Pivina L</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2022 Aug;21(8):103135.
|
||
Epub 2022 Jun 9
|
||
doi: 10.1016/j.autrev.2022.103135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35690244" target="_blank">35690244</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33417592">Meningococcal Vaccination: Recommendations of the Advisory Committee on Immunization Practices, United States, 2020.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mbaeyi SA,
|
||
Bozio CH,
|
||
Duffy J,
|
||
Rubin LG,
|
||
Hariri S,
|
||
Stephens DS,
|
||
MacNeil JR</span><br />
|
||
<span class="medgenPMjournal">MMWR Recomm Rep</span>
|
||
2020 Sep 25;69(9):1-41.
|
||
doi: 10.15585/mmwr.rr6909a1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33417592" target="_blank">33417592</a><a href="/pmc/articles/PMC7527029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17826619">The prevention and management of infections in children with asplenia or hyposplenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Price VE,
|
||
Blanchette VS,
|
||
Ford-Jones EL</span><br />
|
||
<span class="medgenPMjournal">Infect Dis Clin North Am</span>
|
||
2007 Sep;21(3):697-710, viii-ix.
|
||
doi: 10.1016/j.idc.2007.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17826619" target="_blank">17826619</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22asplenia%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 (45)</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/38460606">Celiac Disease-Related Conditions: Who to Test?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zingone F,
|
||
Bai JC,
|
||
Cellier C,
|
||
Ludvigsson JF</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2024 Jun;167(1):64-78.
|
||
Epub 2024 Mar 7
|
||
doi: 10.1053/j.gastro.2024.02.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38460606" target="_blank">38460606</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36329079">Asplenia and spleen hypofunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenti MV,
|
||
Luu S,
|
||
Carsetti R,
|
||
Osier F,
|
||
Ogwang R,
|
||
Nnodu OE,
|
||
Wiedermann U,
|
||
Spencer J,
|
||
Locatelli F,
|
||
Corazza GR,
|
||
Di Sabatino A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2022 Nov 3;8(1):71.
|
||
doi: 10.1038/s41572-022-00399-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36329079" target="_blank">36329079</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32811689">CIN or not: An approach to the evaluation and management of chronic idiopathic neutrophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otieno SB,
|
||
Altahan A,
|
||
Karri S,
|
||
Kaweeta F,
|
||
Lands L,
|
||
Weir A</span><br />
|
||
<span class="medgenPMjournal">Blood Rev</span>
|
||
2021 Mar;46:100739.
|
||
Epub 2020 Aug 5
|
||
doi: 10.1016/j.blre.2020.100739.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32811689" target="_blank">32811689</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275684">Preventing infections in children and adults with asplenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee GM</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2020 Dec 4;2020(1):328-335.
|
||
doi: 10.1182/hematology.2020000117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33275684" target="_blank">33275684</a><a href="/pmc/articles/PMC7727556" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26919677">Opportunistic Pulmonary Infections in Immunocompromised Hosts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rali P,
|
||
Veer M,
|
||
Gupta N,
|
||
Singh AC,
|
||
Bhanot N</span><br />
|
||
<span class="medgenPMjournal">Crit Care Nurs Q</span>
|
||
2016 Apr-Jun;39(2):161-75.
|
||
doi: 10.1097/CNQ.0000000000000109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26919677" target="_blank">26919677</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Asplenia%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 (378)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38460606">Celiac Disease-Related Conditions: Who to Test?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zingone F,
|
||
Bai JC,
|
||
Cellier C,
|
||
Ludvigsson JF</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2024 Jun;167(1):64-78.
|
||
Epub 2024 Mar 7
|
||
doi: 10.1053/j.gastro.2024.02.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38460606" target="_blank">38460606</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36329079">Asplenia and spleen hypofunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenti MV,
|
||
Luu S,
|
||
Carsetti R,
|
||
Osier F,
|
||
Ogwang R,
|
||
Nnodu OE,
|
||
Wiedermann U,
|
||
Spencer J,
|
||
Locatelli F,
|
||
Corazza GR,
|
||
Di Sabatino A</span><br />
|
||
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|
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<div class="nl"><a target="_blank" href="/pubmed/27735157">Ivemark Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Masiwal P,
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<div class="nl"><a target="_blank" href="/pubmed/21474172">Post-splenectomy and hyposplenic states.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Di Sabatino A,
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<div class="nl"><a target="_blank" href="/pubmed/36329079">Asplenia and spleen hypofunction.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lenti MV,
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Luu S,
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<span class="bold">PMID: </span><a href="/pubmed/36329079" target="_blank">36329079</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33275684">Preventing infections in children and adults with asplenia.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26315210">A review of guidance on immunization in persons with defective or deficient splenic function.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kuchar E,
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<span class="bold">PMID: </span><a href="/pubmed/21621004" target="_blank">21621004</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21474172">Post-splenectomy and hyposplenic states.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Di Sabatino A,
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Carsetti R,
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Corazza GR</span><br />
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<span class="medgenPMjournal">Lancet</span>
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2011 Jul 2;378(9785):86-97.
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Epub 2011 Apr 5
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doi: 10.1016/S0140-6736(10)61493-6.
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<span class="bold">PMID: </span><a href="/pubmed/21474172" target="_blank">21474172</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Asplenia%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 (198)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/26612104">Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mishra S</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/26612104" target="_blank">26612104</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22398009">Atrial isomerism: a pictorial review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Balan A,
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Lazoura O,
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Padley SP,
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Rubens M,
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Nicol ED</span><br />
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2012 Mar-Apr;6(2):127-36.
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<span class="bold">PMID: </span><a href="/pubmed/22398009" target="_blank">22398009</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21474172">Post-splenectomy and hyposplenic states.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Di Sabatino A,
|
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Carsetti R,
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Corazza GR</span><br />
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<span class="medgenPMjournal">Lancet</span>
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2011 Jul 2;378(9785):86-97.
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Epub 2011 Apr 5
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doi: 10.1016/S0140-6736(10)61493-6.
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<span class="bold">PMID: </span><a href="/pubmed/21474172" target="_blank">21474172</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11272299">Detection, education and management of the asplenic or hyposplenic patient.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8334500">The immunocompromised traveller.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Conlon CP</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Asplenia%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 (207)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35205306">Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rosato S,
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Unger S,
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Campos-Xavier B,
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Caraffi SG,
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Beltrami L,
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Pollazzon M,
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Ivanovski I,
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Castori M,
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Bonasoni MP,
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Comitini G,
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Nikkels PGJ,
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Lindstrom K,
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Umandap C,
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Superti-Furga A,
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Garavelli L</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2022 Jan 28;13(2)
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doi: 10.3390/genes13020261.
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<span class="bold">PMID: </span><a href="/pubmed/35205306" target="_blank">35205306</a><a href="/pmc/articles/PMC8871755" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24952648">Altered translation of GATA1 in Diamond-Blackfan anemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ludwig LS,
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Gazda HT,
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Eng JC,
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Eichhorn SW,
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Thiru P,
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Ghazvinian R,
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George TI,
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Gotlib JR,
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Beggs AH,
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<div class="nl"><a target="_blank" href="/pubmed/22398009">Atrial isomerism: a pictorial review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Balan A,
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Lazoura O,
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Padley SP,
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Rubens M,
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Nicol ED</span><br />
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<span class="medgenPMjournal">J Cardiovasc Comput Tomogr</span>
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Epub 2012 Jan 28
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doi: 10.1016/j.jcct.2011.10.019.
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<span class="bold">PMID: </span><a href="/pubmed/22398009" target="_blank">22398009</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8334500">The immunocompromised traveller.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Conlon CP</span><br />
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<span class="medgenPMjournal">Br Med Bull</span>
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1993 Apr;49(2):412-22.
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doi: 10.1093/oxfordjournals.bmb.a072618.
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<span class="bold">PMID: </span><a href="/pubmed/8334500" target="_blank">8334500</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/74605">Immune response after splenectomy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan JL,
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Ochs HD,
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Schiffman G,
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Hammerschlag MR,
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Miser J,
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Vichinsky E,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Asplenia%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 (121)</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/39952479">Risk of invasive meningococcal disease in people with sickle cell disease: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Isitt C,
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Campbell H,
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Cosgrove CA,
|
||
Ramsay ME,
|
||
Heath PT,
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||
Borrow R,
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||
Ladhani SN</span><br />
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||
<span class="medgenPMjournal">J Infect</span>
|
||
2025 Mar;90(3):106441.
|
||
Epub 2025 Feb 12
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||
doi: 10.1016/j.jinf.2025.106441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39952479" target="_blank">39952479</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27425254">Bacteremia in Patients with Heterotaxy: A Review and Implications for Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loomba RS,
|
||
Geddes GC,
|
||
Basel D,
|
||
Benson DW,
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||
Leuthner SR,
|
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Hehir DA,
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Ghanayem N,
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Shillingford AJ</span><br />
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<span class="medgenPMjournal">Congenit Heart Dis</span>
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2016 Dec;11(6):537-547.
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||
Epub 2016 Jul 18
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doi: 10.1111/chd.12395.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27425254" target="_blank">27425254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24956685">A systematic review of effectiveness of daily oral penicillin v prophylaxis in the prevention of pneumococcal infection in children with sickle cell anaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gwaram HA,
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Gwaram BA</span><br />
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<span class="medgenPMjournal">Niger J Med</span>
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2014 Apr-Jun;23(2):118-29.
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||
<span class="bold">PMID: </span><a href="/pubmed/24956685" target="_blank">24956685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16532329">Somatostatin or octreotide as treatment options for chylothorax in young children: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roehr CC,
|
||
Jung A,
|
||
Proquitté H,
|
||
Blankenstein O,
|
||
Hammer H,
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Lakhoo K,
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Wauer RR</span><br />
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<span class="medgenPMjournal">Intensive Care Med</span>
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Epub 2006 Mar 11
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||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/16532329" target="_blank">16532329</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Asplenia%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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|
||
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|
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|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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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=C5779621%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C5779621%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5779621%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Asplenia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(%22asplenia%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(%22Asplenia%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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