{"orpha":1775,"name":"Dyskeratosis congenita","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DC","DKC","Zinsser-Engman-Cole syndrome"],"definition":"A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1775/","orphanet_url":"https://www.orpha.net/en/disease/detail/1775","names":{"fr":{"name":"Dyskératose congénitale","synonyms":["DC","DKC","Syndrome de Zinsser-Engman-Cole"],"definition":"Syndrome de dysplasie ectodermique rare se présentant souvent par la triade classique de dysplasie unguéale, anomalies de la pigmentation cutanée et leucoplasie buccale, associé à un risque élevé d'insuffisance médullaire et de cancer."},"de":{"name":"Dyskeratosis congenita","synonyms":["DC","DKC","Zinsser-Engman-Cole-Syndrom"],"definition":"Ein seltenes Syndrom aus der Gruppe der ektodermalen Dysplasien, das sich häufig mit der klassischen Trias aus Nageldysplasie, Hautpigmentveränderungen und oraler Leukoplakie präsentiert, verbunden mit einem hohen Risiko für Knochenmarkversagen (BMF) und Krebs."},"es":{"name":"Disqueratosis congénita","synonyms":["DC","DKC","Síndrome de Zinsser-Engman-Cole"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente que a menudo se presenta con la clásica tríada de displasia ungueal, cambios en la pigmentación cutánea y leucoplasia oral asociada a un elevado riesgo de insuficiencia de médula ósea (IMO) y cáncer."},"it":{"name":"Discheratosi congenita","synonyms":["DC","DKC","Sindrome di Zinsser-Engman-Cole"],"definition":"La discheratosi congenita (DC) è una displasia ectodermica rara, che spesso esordisce con la classica triade displasia ungueale, alterazioni della pigmentazione cutanea e leucoplachia orale, associata ad un rischio elevato di insufficienza del midollo osseo e di neoplasie."},"nl":{"name":"Dyskeratosis congenita","synonyms":["DC","DKC","Syndroom van Zinsser-Engman-Cole"],"definition":"Een zeldzaam ectodermale dysplasiesyndroom dat zich vaak presenteert met de klassieke triade van nageldysplasie, veranderingen van huidpigmentatie, en orale leukoplakie geassocieerd met een hoog risico op beenmergfalen (BMF) en kanker."},"pt":{"name":"Disqueratose congénita","synonyms":["DQC"]},"pl":{"name":"Dyskeratoza wrodzona","synonyms":["DC","DKC","Zespół Zinssera, Engmana i Cole'a"]},"cs":{"name":"Vrozená dyskeratóza","synonyms":["DC","DKC","Zinsserův-Engmanův-Coleův syndrom","Zinsser-Engman-Coleův syndrom"]},"uk":{"name":"Вроджений дискератоз","synonyms":["DC","DKC","Синдром Зінссера-Енгмана-Коле"],"definition":"A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer."},"zh":{"name":"先天性角化不良","synonyms":["Zinsser-Engman-Cole综合征"]},"tr":{"name":"Diskeratozis konjenita","synonyms":["DC","DKC","Zinsser-Engman-Cole sendromu"]}},"xrefs":[{"source":"OMIM","code":"127550","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"224230","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"305000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613987","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613988","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613989","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613990","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615190","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616353","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616553","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620040","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620133","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"3A70.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1531033936"},{"source":"MONDO","code":"0015780","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D019871","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265965","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10905","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062759","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":222628,"name":"Hereditary poikiloderma","classifications":[156,187]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":728475,"name":"Inherited bone marrow failure disorder with immune defect","classifications":[156,195]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":68383,"name":"Rare constitutional aplastic anemia","classifications":[156,194,233]},{"orpha":717877,"name":"Rare miscellaneous disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"NPM1","name":"nucleophosmin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) 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helicase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23453664[PMID]","hgnc":"15888","ensembl":"ENSG00000258366","omim":"608833","loci":["20q13.33"]},{"symbol":"TERC","name":"telomerase RNA component","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301779[PMID]","hgnc":"11727","ensembl":"ENSG00000270141","omim":"602322","loci":["3q26.2"]},{"symbol":"TERT","name":"telomerase reverse transcriptase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301779[PMID]","hgnc":"11730","ensembl":"ENSG00000164362","omim":"187270","loci":["5p15.33"]},{"symbol":"TINF2","name":"TERF1 interacting nuclear factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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