{"orpha":895,"name":"Waardenburg syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["WS2","Waardenburg syndrome type II"],"definition":"An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-895/","orphanet_url":"https://www.orpha.net/en/disease/detail/895","names":{"fr":{"name":"Syndrome de Waardenburg type 2","synonyms":["Syndrome de Waardenburg type II","WS2"],"definition":"Le syndrome de Waardenburg type 2 (WS2) est un sous-type du syndrome de Waardenburg (WS) à transmission autosomique dominante, caractérisé par une surdité de degré variable et des anomalies de pigmentation des yeux, des cheveux et de la peau, mais sans dystopie canthale."},"de":{"name":"Waardenburg-Syndrom Typ 2","synonyms":["WS2","Waardenburg-Syndrom Typ II"],"definition":"Das Waardenburg-Syndrom Typ 2 (WS2) ist ein autosomal-dominanter Subtyp des Waardenburg-Syndroms, charakterisiert durch einen unterschiedlichen Grad an Taubheit und Pigmentanomalien der Augen, der Haaren und der Haut, jedoch ohne eine Dystopia canthorum."},"es":{"name":"Síndrome de Waardenburg tipo 2","synonyms":["Síndrome de Waardenburg tipo II","WS2"],"definition":"Es un subtipo del síndrome de Waardenburg (SW) de herencia autosómica dominante, que se caracteriza por grados variables de sordera y anomalías de pigmentación de los ojos, cabello y piel, pero sin distopia cantorum."},"it":{"name":"Sindrome di Waardenburg, tipo 2","synonyms":["WS2"],"definition":"La sindrome di Waardenburg tipo 2 (WS2) è una forma della sindrome di Waardenburg a trasmissione autosomica dominante; è caratterizzata da sordità di gravità variabile, associata ad anomalie della pigmentazione degli occhi, dei capelli e della cute, in assenza di distopia dei canti."},"nl":{"name":"Syndroom van Waardenburg type 2","synonyms":["Syndroom van Waardenburg type II","WS2"],"definition":"Een autosomaal dominant subtype van syndroom van Waardenburg (WS), gekarakteriseerd door variabele gradaties van doofheid en anomalieën van de pigmentatie van ogen, haar en huid, maar zonder dystopia canthorum."},"pt":{"name":"Síndrome Waardenburg tipo 2","definition":"Subtipo autossómico dominante da síndrome Waardenburg (SW) caracterizado por graus variáveis de surdez e anomalias de pigmentação nos olhos, cabelo e pele, mas sem distopia cantorum."},"pl":{"name":"Zespół Waardenburga typu 2","synonyms":["WS2","Zespół Waardenburga typu II"],"definition":"Dziedziczony autosomalnie dominująco podtyp zespołu Waardenburga, charakteryzujący się niedosłuchem o różnym nasileniu i nieprawidłowościami w pigmentacji oczu, włosów i skóry, ale bez dystopia canthorum."},"cs":{"name":"Waardenburgův syndrom, typ 2","synonyms":["WS2"]},"uk":{"name":"Синдром Ваарденбурга, тип 2","synonyms":["Синдром Ваарденбурга, тип II","WS2"],"definition":"An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum."},"zh":{"name":"Waardenburg综合征2型","synonyms":["Waardenburg综合征2型"]},"tr":{"name":"Waardenburg sendromu tip 2","synonyms":["WS2","Waardenburg sendromu tip II"]}},"xrefs":[{"source":"OMIM","code":"193510","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600193","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606662","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611584","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619947","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"746815303"},{"source":"MONDO","code":"0019517","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536463","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2700265","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5520","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":352740,"name":"Ocular albinism with congenital sensorineural deafness","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3440,"name":"Waardenburg syndrome","classifications":[147,156,187,200]}],"children":[],"genes":[{"symbol":"EDNRB","name":"endothelin receptor type B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28236341[PMID]","hgnc":"3180","ensembl":"ENSG00000136160","omim":"131244","loci":["13q22.3"]},{"symbol":"KITLG","name":"KIT ligand","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26522471[PMID]","hgnc":"6343","ensembl":"ENSG00000049130","omim":"184745","loci":["12q21.32"]},{"symbol":"MITF","name":"melanocyte inducing transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23098757[PMID]","hgnc":"7105","ensembl":"ENSG00000187098","omim":"156845","loci":["3p13"]},{"symbol":"SNAI2","name":"snail family transcriptional repressor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12444107[PMID]","hgnc":"11094","ensembl":"ENSG00000019549","omim":"602150","loci":["8q11.21"]},{"symbol":"SOX10","name":"SRY-box transcription factor 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21898658[PMID]_17999358[PMID]","hgnc":"11190","ensembl":"ENSG00000100146","omim":"602229","loci":["22q13.1"]},{"symbol":"TYR","name":"tyrosinase","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"9158138[PMID]","hgnc":"12442","ensembl":"ENSG00000077498","omim":"606933","loci":["11q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"9158138[PMID]_19938076[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"9158138[PMID]_19938076[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002211","label":"White forelock","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null}]}}