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<meta name="keywords" content="C1857144, autosomal recessive dyskeratosis congenita, autosomal recessive dyskeratosis congenita 1, disease or syndrome, dkcb, dkcb1, dyskeratosis congenita autosomal recessive, dyskeratosis congenita, autosomal recessive 1, dyskeratosis congenita, autosomal recessive type 1, nhp2, nop10, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=341705
|
||
ConceptID=C1857144
|
||
-->
|
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK22301/bin/dkc-Image002.gif" src-large="/books/NBK22301/bin/dkc-Image002.jpg" /></a><br /><a href="/books/NBK22301/figure/dkc.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK22301/bin/dkc-Image001.gif" src-large="/books/NBK22301/bin/dkc-Image001.jpg" /></a><br /><a href="/books/NBK22301/figure/dkc.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK22301/bin/dkc-Image003.gif" src-large="/books/NBK22301/bin/dkc-Image003.jpg" /></a><br /><a href="/books/NBK22301/figure/dkc.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Dyskeratosis congenita, autosomal recessive 1<span class="h1sub">(DKCB1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341705</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DKCB1; DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="NHP2 - ID: 55651 - NCBI Gene" href="/gene/55651" class="medgenPMinfo">NHP2</a> (5q35.3); <a target="_blank" title="NOP10 - ID: 55505 - NCBI Gene" href="/gene/55505" class="medgenPMinfo">NOP10</a> (15q14)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009136" target="_blank">MONDO:0009136</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/224230" target="_blank">224230</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK22301" target="_blank">Dyskeratosis Congenita and Related Telomere Biology Disorders</a></div><div>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. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK22301#dkc.Summary" target="NBK22301">Summary</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.GeneReview_Scope" target="NBK22301">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Diagnosis" target="NBK22301">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Clinical_Characteristics" target="NBK22301">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Genetically_Related_Allelic_Disorder" target="NBK22301">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Differential_Diagnosis" target="NBK22301">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Management" target="NBK22301">Management</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Genetic_Counseling" target="NBK22301">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Resources" target="NBK22301">Resources</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Molecular_Genetics" target="NBK22301">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Chapter_Notes" target="NBK22301">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.References" target="NBK22301">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Sharon A Savage | Marena R Niewisch <a href="/books/NBK22301" target="NBK22301" title="NCBI Bookshelf: Dyskeratosis Congenita and Related Telomere Biology Disorders">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).
|
||
For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). <a target="_blank" href="http://www.omim.org/entry/224230">http://www.omim.org/entry/224230</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_44017"><div><strong>Palmoplantar keratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44017</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.">C0022596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44017">Feature record</a> | <a href="/medgen?term=%22Palmoplantar%20keratosis%22%5BClinical%20Features%5D%20OR%2044017%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116093"><div><strong>Hepatic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116093</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.">C0239946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116093">Feature record</a> | <a href="/medgen?term=%22Hepatic%20fibrosis%22%5BClinical%20Features%5D%20OR%20116093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1637009"><div><strong>Esophageal stricture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637009</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.">C4551650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1637009">Feature record</a> | <a href="/medgen?term=%22Esophageal%20stricture%22%5BClinical%20Features%5D%20OR%201637009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8063"><div><strong>Aplastic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8063</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.">C0002874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8063">Feature record</a> | <a href="/medgen?term=%22Aplastic%20anemia%22%5BClinical%20Features%5D%20OR%208063%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18281"><div><strong>Pancytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18281</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0030312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18281">Feature record</a> | <a href="/medgen?term=%22Pancytopenia%22%5BClinical%20Features%5D%20OR%2018281%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383749"><div><strong>Bone marrow hypocellularity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383749</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.">C1855710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383749">Feature record</a> | <a href="/medgen?term=%22Bone%20marrow%20hypocellularity%22%5BClinical%20Features%5D%20OR%20383749%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14535"><div><strong>Osteoporosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14535</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.">C0029456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14535">Feature record</a> | <a href="/medgen?term=%22Osteoporosis%22%5BClinical%20Features%5D%20OR%2014535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11028"><div><strong>Pulmonary fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11028</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.">C0034069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Replacement of normal lung tissues by fibroblasts and collagen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11028">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20fibrosis%22%5BClinical%20Features%5D%20OR%2011028%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8288"><div><strong>Carious teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8288</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.">C0011334</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8288">Feature record</a> | <a href="/medgen?term=%22Carious%20teeth%22%5BClinical%20Features%5D%20OR%208288%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9738"><div><strong>Oral mucosa leukoplakia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9738</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.">C0023532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A thickened white patch on the oral mucosa that cannot be rubbed off.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9738">Feature record</a> | <a href="/medgen?term=%22Oral%20mucosa%20leukoplakia%22%5BClinical%20Features%5D%20OR%209738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66008"><div><strong>Microdontia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66008</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.">C0240340</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66008">Feature record</a> | <a href="/medgen?term=%22Microdontia%22%5BClinical%20Features%5D%20OR%2066008%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_226915"><div><strong>Nasolacrimal duct obstruction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226915</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.">C1281931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blockage of the lacrimal duct.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/226915">Feature record</a> | <a href="/medgen?term=%22Nasolacrimal%20duct%20obstruction%22%5BClinical%20Features%5D%20OR%20226915%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346499"><div><strong>Sparse scalp hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346499</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.">C1857042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased number of hairs per unit area of skin of the scalp.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346499">Feature record</a> | <a href="/medgen?term=%22Sparse%20scalp%20hair%22%5BClinical%20Features%5D%20OR%20346499%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_46202"><div><strong>Pterygium</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46202</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.">C0033999</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/46202">Feature record</a> | <a href="/medgen?term=%22Pterygium%22%5BClinical%20Features%5D%20OR%2046202%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57992"><div><strong>Hyperpigmentation of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57992</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.">C0162834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A darkening of the skin related to an increase in melanin production and deposition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57992">Feature record</a> | <a href="/medgen?term=%22Hyperpigmentation%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%2057992%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66368"><div><strong>Nail dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66368</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.">C0221260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66368">Feature record</a> | <a href="/medgen?term=%22Nail%20dystrophy%22%5BClinical%20Features%5D%20OR%2066368%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_537942"><div><strong>Small nail</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>537942</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.">C0263523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A nail that is diminished in length and width, i.e., underdeveloped nail.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/537942">Feature record</a> | <a href="/medgen?term=%22Small%20nail%22%5BClinical%20Features%5D%20OR%20537942%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_590415"><div><strong>Nail pterygium</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>590415</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.">C0406438</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inward advance of skin over the nail plate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/590415">Feature record</a> | <a href="/medgen?term=%22Nail%20pterygium%22%5BClinical%20Features%5D%20OR%20590415%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375151"><div><strong>Sparse eyelashes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375151</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.">C1843300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased density/number of eyelashes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375151">Feature record</a> | <a href="/medgen?term=%22Sparse%20eyelashes%22%5BClinical%20Features%5D%20OR%20375151%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338832"><div><strong>Reticular hyperpigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338832</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.">C1851972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased pigmentation of the skin with a netlike (reticular) pattern.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338832">Feature record</a> | <a href="/medgen?term=%22Reticular%20hyperpigmentation%22%5BClinical%20Features%5D%20OR%20338832%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57518"><div><strong>Epiphora</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57518</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.">C0152227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased lacrimation, that is, excessive tearing (watering eye).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57518">Feature record</a> | <a href="/medgen?term=%22Epiphora%22%5BClinical%20Features%5D%20OR%2057518%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8063" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplastic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383749" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow hypocellularity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancytopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carious teeth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microdontia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_226915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasolacrimal duct obstruction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oral mucosa leukoplakia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346499" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse scalp hair</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmoplantar keratosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1637009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal stricture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic fibrosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57518" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epiphora</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperpigmentation of the skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_590415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail pterygium</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_46202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pterygium</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reticular hyperpigmentation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_537942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small nail</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse eyelashes</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265965[DISCUI]&test_type=Clinical" ref="ncbi_uid=78580">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=78580">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78580" ref="ncbi_uid=78580">V</a></span></span><span class="TLline"><a href="/medgen/78580" ref="tree=GTR&ncbi_uid=78580&link_uid=78580" title="View MedGen record for 'Dyskeratosis congenita'">Dyskeratosis congenita</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/502504" ref="tree=GTR&ncbi_uid=502504&link_uid=502504" title="View MedGen record for 'Autosomal recessive dyskeratosis congenita'">Autosomal recessive dyskeratosis congenita</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857144[DISCUI]&test_type=Clinical" ref="ncbi_uid=341705">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341705" target="_blank" href="/omim/224230">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=341705">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341705" ref="ncbi_uid=341705">V</a></span></span><span class="TLline">Dyskeratosis congenita, autosomal recessive 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151441[DISCUI]&test_type=Clinical" ref="ncbi_uid=462791">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462791" target="_blank" href="/omim/606470">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=462791">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462791" ref="ncbi_uid=462791">V</a></span></span><span class="TLline"><a href="/medgen/462791" ref="tree=GTR&ncbi_uid=462791&link_uid=462791" title="View MedGen record for 'Dyskeratosis congenita, autosomal recessive 2'">Dyskeratosis congenita, autosomal recessive 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151442[DISCUI]&test_type=Clinical" ref="ncbi_uid=462792">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462792" target="_blank" href="/omim/612661">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=462792">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462792" ref="ncbi_uid=462792">V</a></span></span><span class="TLline"><a href="/medgen/462792" ref="tree=GTR&ncbi_uid=462792&link_uid=462792" title="View MedGen record for 'Dyskeratosis congenita, autosomal recessive 3'">Dyskeratosis congenita, autosomal recessive 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225356[DISCUI]&test_type=Clinical" ref="ncbi_uid=905452">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=905452" target="_blank" href="/omim/604212">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=905452">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=905452" ref="ncbi_uid=905452">V</a></span></span><span class="TLline"><a href="/medgen/905452" ref="tree=GTR&ncbi_uid=905452&link_uid=905452" title="View MedGen record for 'Dyskeratosis congenita, autosomal recessive 6'">Dyskeratosis congenita, autosomal recessive 6</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151444[DISCUI]&test_type=Clinical" ref="ncbi_uid=462794">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462794" target="_blank" href="/omim/187270">O</a></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=462794" ref="ncbi_uid=462794">V</a></span></span><span class="TLline"><a href="/medgen/462794" ref="tree=GTR&ncbi_uid=462794&link_uid=462794" title="View MedGen record for 'Autosomal recessive dyskeratosis congenita 4'">Autosomal recessive dyskeratosis congenita 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551974[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645250">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645250" target="_blank" href="/omim/127550">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=1645250">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1645250" ref="ncbi_uid=1645250">V</a></span></span><span class="TLline"><a href="/medgen/1645250" ref="tree=GTR&ncbi_uid=1645250&link_uid=1645250" title="View MedGen record for 'Dyskeratosis congenita, autosomal dominant 1'">Dyskeratosis congenita, autosomal dominant 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151443[DISCUI]&test_type=Clinical" ref="ncbi_uid=462793">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462793" target="_blank" href="/omim/187270">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=462793">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462793" ref="ncbi_uid=462793">V</a></span></span><span class="TLline"><a href="/medgen/462793" ref="tree=GTR&ncbi_uid=462793&link_uid=462793" title="View MedGen record for 'Dyskeratosis congenita, autosomal dominant 2'">Dyskeratosis congenita, autosomal dominant 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151445[DISCUI]&test_type=Clinical" ref="ncbi_uid=462795">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462795" target="_blank" href="/omim/604319">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=462795">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462795" ref="ncbi_uid=462795">V</a></span></span><span class="TLline"><a href="/medgen/462795" ref="tree=GTR&ncbi_uid=462795&link_uid=462795" title="View MedGen record for 'Dyskeratosis congenita, autosomal dominant 3'">Dyskeratosis congenita, autosomal dominant 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3808802[DISCUI]&test_type=Clinical" ref="ncbi_uid=815132">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815132" target="_blank" href="/omim/608833">O</a></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=815132" ref="ncbi_uid=815132">V</a></span></span><span class="TLline"><a href="/medgen/815132" ref="tree=GTR&ncbi_uid=815132&link_uid=815132" title="View MedGen record for 'Dyskeratosis congenita, autosomal dominant 4'">Dyskeratosis congenita, autosomal dominant 4</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554656[DISCUI]&test_type=Clinical" ref="ncbi_uid=767570">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767570" target="_blank" href="/omim/608833">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=767570">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767570" ref="ncbi_uid=767570">V</a></span></span><span class="TLline"><a href="/medgen/767570" ref="tree=GTR&ncbi_uid=767570&link_uid=767570" title="View MedGen record for 'Dyskeratosis congenita, autosomal recessive 5'">Dyskeratosis congenita, autosomal recessive 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1148551[DISCUI]&test_type=Clinical" ref="ncbi_uid=216941">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=216941" target="_blank" href="/omim/300126">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=216941">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=216941" ref="ncbi_uid=216941">V</a></span></span><span class="TLline"><a href="/medgen/216941" ref="tree=GTR&ncbi_uid=216941&link_uid=216941" title="View MedGen record for 'Dyskeratosis congenita, X-linked'">Dyskeratosis congenita, X-linked</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/11449" ref="tree=MeSH" title="MedGen record for Congenital anomaly of skin">Congenital anomaly of skin</a></span><ul><li><span class="TLline"><a href="/medgen/78580" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita">Dyskeratosis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/502504" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita">Autosomal recessive dyskeratosis congenita</a></span><ul><li><span class="matched_ds">Dyskeratosis congenita, autosomal recessive 1</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21610750">Clinical utility gene card for: dyskeratosis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dokal I,
|
||
Vulliamy T,
|
||
Mason P,
|
||
Bessler M</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Nov;19(11)
|
||
Epub 2011 May 25
|
||
doi: 10.1038/ejhg.2011.90.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21610750" target="_blank">21610750</a><a href="/pmc/articles/PMC3198148" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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/37944684">Telomere biology disorders may manifest as common variable immunodeficiency (CVID).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rolles B,
|
||
Caballero-Oteyza A,
|
||
Proietti M,
|
||
Goldacker S,
|
||
Warnatz K,
|
||
Camacho-Ordonez N,
|
||
Prader S,
|
||
Schmid JP,
|
||
Vieri M,
|
||
Isfort S,
|
||
Meyer R,
|
||
Kirschner M,
|
||
Brümmendorf TH,
|
||
Beier F,
|
||
Grimbacher B</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2023 Dec;257:109837.
|
||
Epub 2023 Nov 8
|
||
doi: 10.1016/j.clim.2023.109837.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37944684" target="_blank">37944684</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37184208">Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vittal A,
|
||
Niewisch MR,
|
||
Bhala S,
|
||
Kudaravalli P,
|
||
Rahman F,
|
||
Hercun J,
|
||
Kleiner DE,
|
||
Savage SA,
|
||
Koh C,
|
||
Heller T,
|
||
Giri N</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
2023 Dec 1;78(6):1777-1787.
|
||
Epub 2023 May 16
|
||
doi: 10.1097/HEP.0000000000000461.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37184208" target="_blank">37184208</a><a href="/pmc/articles/PMC10733788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36485133">Dyskeratosis congenita and telomere biology disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savage SA</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2022 Dec 9;2022(1):637-648.
|
||
doi: 10.1182/hematology.2022000394.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36485133" target="_blank">36485133</a><a href="/pmc/articles/PMC9821046" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34852175">Disease progression and clinical outcomes in telomere biology disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niewisch MR,
|
||
Giri N,
|
||
McReynolds LJ,
|
||
Alsaggaf R,
|
||
Bhala S,
|
||
Alter BP,
|
||
Savage SA</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Mar 24;139(12):1807-1819.
|
||
doi: 10.1182/blood.2021013523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34852175" target="_blank">34852175</a><a href="/pmc/articles/PMC8952184" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26724991">Neonatal manifestations of inherited bone marrow failure syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khincha PP,
|
||
Savage SA</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2016 Feb;21(1):57-65.
|
||
Epub 2015 Dec 24
|
||
doi: 10.1016/j.siny.2015.12.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26724991" target="_blank">26724991</a><a href="/pmc/articles/PMC4747853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dyskeratosis%20congenita%2C%20autosomal%20recessive%201%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37944684">Telomere biology disorders may manifest as common variable immunodeficiency (CVID).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rolles B,
|
||
Caballero-Oteyza A,
|
||
Proietti M,
|
||
Goldacker S,
|
||
Warnatz K,
|
||
Camacho-Ordonez N,
|
||
Prader S,
|
||
Schmid JP,
|
||
Vieri M,
|
||
Isfort S,
|
||
Meyer R,
|
||
Kirschner M,
|
||
Brümmendorf TH,
|
||
Beier F,
|
||
Grimbacher B</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2023 Dec;257:109837.
|
||
Epub 2023 Nov 8
|
||
doi: 10.1016/j.clim.2023.109837.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37944684" target="_blank">37944684</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35931051">Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tummala H,
|
||
Walne A,
|
||
Buccafusca R,
|
||
Alnajar J,
|
||
Szabo A,
|
||
Robinson P,
|
||
McConkie-Rosell A,
|
||
Wilson M,
|
||
Crowley S,
|
||
Kinsler V,
|
||
Ewins AM,
|
||
Madapura PM,
|
||
Patel M,
|
||
Pontikos N,
|
||
Codd V,
|
||
Vulliamy T,
|
||
Dokal I</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2022 Aug 4;109(8):1472-1483.
|
||
doi: 10.1016/j.ajhg.2022.06.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35931051" target="_blank">35931051</a><a href="/pmc/articles/PMC9388389" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34852175">Disease progression and clinical outcomes in telomere biology disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niewisch MR,
|
||
Giri N,
|
||
McReynolds LJ,
|
||
Alsaggaf R,
|
||
Bhala S,
|
||
Alter BP,
|
||
Savage SA</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Mar 24;139(12):1807-1819.
|
||
doi: 10.1182/blood.2021013523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34852175" target="_blank">34852175</a><a href="/pmc/articles/PMC8952184" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26724991">Neonatal manifestations of inherited bone marrow failure syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khincha PP,
|
||
Savage SA</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2016 Feb;21(1):57-65.
|
||
Epub 2015 Dec 24
|
||
doi: 10.1016/j.siny.2015.12.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26724991" target="_blank">26724991</a><a href="/pmc/articles/PMC4747853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17825470">Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vulliamy TJ,
|
||
Dokal I</span><br />
|
||
<span class="medgenPMjournal">Biochimie</span>
|
||
2008 Jan;90(1):122-30.
|
||
Epub 2007 Jul 31
|
||
doi: 10.1016/j.biochi.2007.07.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17825470" target="_blank">17825470</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dyskeratosis%20congenita%2C%20autosomal%20recessive%201%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 (11)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34852175">Disease progression and clinical outcomes in telomere biology disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niewisch MR,
|
||
Giri N,
|
||
McReynolds LJ,
|
||
Alsaggaf R,
|
||
Bhala S,
|
||
Alter BP,
|
||
Savage SA</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Mar 24;139(12):1807-1819.
|
||
doi: 10.1182/blood.2021013523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34852175" target="_blank">34852175</a><a href="/pmc/articles/PMC8952184" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dyskeratosis%20congenita%2C%20autosomal%20recessive%201%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37944684">Telomere biology disorders may manifest as common variable immunodeficiency (CVID).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rolles B,
|
||
Caballero-Oteyza A,
|
||
Proietti M,
|
||
Goldacker S,
|
||
Warnatz K,
|
||
Camacho-Ordonez N,
|
||
Prader S,
|
||
Schmid JP,
|
||
Vieri M,
|
||
Isfort S,
|
||
Meyer R,
|
||
Kirschner M,
|
||
Brümmendorf TH,
|
||
Beier F,
|
||
Grimbacher B</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2023 Dec;257:109837.
|
||
Epub 2023 Nov 8
|
||
doi: 10.1016/j.clim.2023.109837.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37944684" target="_blank">37944684</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37184208">Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vittal A,
|
||
Niewisch MR,
|
||
Bhala S,
|
||
Kudaravalli P,
|
||
Rahman F,
|
||
Hercun J,
|
||
Kleiner DE,
|
||
Savage SA,
|
||
Koh C,
|
||
Heller T,
|
||
Giri N</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
2023 Dec 1;78(6):1777-1787.
|
||
Epub 2023 May 16
|
||
doi: 10.1097/HEP.0000000000000461.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37184208" target="_blank">37184208</a><a href="/pmc/articles/PMC10733788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dyskeratosis%20congenita%2C%20autosomal%20recessive%201%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37184208">Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vittal A,
|
||
Niewisch MR,
|
||
Bhala S,
|
||
Kudaravalli P,
|
||
Rahman F,
|
||
Hercun J,
|
||
Kleiner DE,
|
||
Savage SA,
|
||
Koh C,
|
||
Heller T,
|
||
Giri N</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
2023 Dec 1;78(6):1777-1787.
|
||
Epub 2023 May 16
|
||
doi: 10.1097/HEP.0000000000000461.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37184208" target="_blank">37184208</a><a href="/pmc/articles/PMC10733788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34852175">Disease progression and clinical outcomes in telomere biology disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niewisch MR,
|
||
Giri N,
|
||
McReynolds LJ,
|
||
Alsaggaf R,
|
||
Bhala S,
|
||
Alter BP,
|
||
Savage SA</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Mar 24;139(12):1807-1819.
|
||
doi: 10.1182/blood.2021013523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34852175" target="_blank">34852175</a><a href="/pmc/articles/PMC8952184" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1375530">Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ning Y,
|
||
Yongshan Y,
|
||
Pai GS,
|
||
Gross AJ</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet Cytogenet</span>
|
||
1992 May;60(1):31-4.
|
||
doi: 10.1016/0165-4608(92)90229-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1375530" target="_blank">1375530</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dyskeratosis%20congenita%2C%20autosomal%20recessive%201%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 (3)</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>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1857144%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857144%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857144%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (49)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857144%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1857144%5bDISCUI%5d" target="_blank">See all (55)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=224230" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Dyskeratosis%20congenita,%20autosomal%20recessive%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//21610750/">EuroGenetest, 2011</a><div>Clinical utility gene card for: dyskeratosis congenita.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=606470%20606471" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=55505[geneid]" target="_blank">View NOP10 variations in ClinVar</a></li><li><a href="/clinvar/?term=55651[geneid]" target="_blank">View NHP2 variations in ClinVar</a></li><li><a href="/nuccore/224922760,226371644" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=224230" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/dyskeratosis_congenita_autosomal_recessive_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Dyskeratosis%20congenita,%20autosomal%20recessive%201" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6300/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301779" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Dyskeratosis%20congenita,%20autosomal%20recessive%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Dyskeratosis%20congenita,%20autosomal%20recessive%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=341705" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=341705" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1857144[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<div class="col-lg-3 col-12 centered-lg">
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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