{"orpha":897,"name":"Waardenburg-Shah syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Shah-Waardenburg syndrome","WS4","Waardenburg syndrome type 4","Waardenburg-Hirschsprung syndrome"],"definition":"Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-897/","orphanet_url":"https://www.orpha.net/en/disease/detail/897","names":{"fr":{"name":"Syndrome de Waardenburg-Shah","synonyms":["Syndrome de Shah-Waardenburg","Syndrome de Waardenburg type 4","Syndrome de Waardenburg-Hirschsprung","WS4"],"definition":"Également connu sous le nom de syndrome de Waardenburg type 4 (WS4), le syndrome de Waardenburg-Shah (SWS) se caractérise par l'association du syndrome de Waardenburg (surdité neurosensorielle et anomalies pigmentaires), et de la maladie de Hirschsprung (mégacôlon aganglionnaire)."},"de":{"name":"Waardenburg-Shah-Syndrom","synonyms":["WS4","Waardenburg-Hirschsprung-Syndrom","Waardenburg-Syndrom Typ 4"],"definition":"Das Waardenburg-Shah-Syndrom (WSS), auch Waardenburg-Syndrom Typ 4 (WS4) genannt, ist durch die Assoziation von Waardenburg-Syndrom (Schallempfindungsschwerhörigkeit und Pigmentstörungen) und Morbus Hirschsprung (aganglionisches Megakolon) gekennzeichnet."},"es":{"name":"Síndrome de Waardenburg-Shah","definition":"Síndrome caracterizado por la asociación del síndrome de Waardenburg (pérdida auditiva neurosensorial y anomalías pigmentarias) y la enfermedad de Hirschsprung (megacolon agangliónico)."},"it":{"name":"Sindrome di Waardenburg-Shah","synonyms":["Sindrome di Shah-Waardenburg","Sindrome di Waardenburg, tipo 4","Sindrome di Waardenburg-Hirschsprung","WS4"],"definition":"La sindrome di Waardenburg-Shah (WSS), nota anche come sindrome di Waardenburg tipo 4 (WS4) è caratterizzata dall'associazione tra la sindrome di Waardenburg (sordità neurosensoriale e anomalie della pigmentazione) e la malattia di Hirschsprung (megacolon agangliare)."},"nl":{"name":"Syndroom van Waardenburg-Shah","synonyms":["Shah-Waardenburgsyndroom","WS4","Waardenburg-Hirschsprungsyndroom","Waardenburgsyndroom type 4"],"definition":"Syndroom van Waardenburg-Shah (WSS), ook gekend als syndroom van Waardenburg type 4 (WS4), wordt gekarakteriseerd door de associatie van syndroom van Waardenburg (sensorineuraal gehoorverlies en pigmentanomalieën) en ziekte van Hirschsprung (aganglionisch megacolon)."},"pt":{"name":"Síndrome Waardenburg-Shah","synonyms":["WS4","Síndrome Shah-Waardenburg","Síndrome Waardenburg tipo 4"],"definition":"O síndrome de Waardenburg-Shah (WSS) é uma neurocristopatia caracterizada pela associação do síndrome de Waardenburg (surdez neurossensorial e alterações pigmentares, ver este termo) e doença de Hirschsprung (ver este termo)."},"pl":{"name":"Zespół Waardenburga i Shaha","synonyms":["Zespół Shaha i Waardenburga","WS4","Zespół Waardenburga i Hirschsprunga","Zespół Waardenburga typu 4"]},"cs":{"name":"Waardenburgův-Shahův syndrom","synonyms":["WS4","Shahův-Waardenburgův syndrom","Waardenburgův syndrom, typ 4","Waardenburgův-Hirschsprungův syndrom","Waardenburg-Shahův syndrom","Shah-Waardenburgův syndrom","Waardenburg-Hirschsprungův syndrom"]},"uk":{"name":"Синдром Ваарденбурга-Шаха","synonyms":["Синдром Шаха-Варденбурга","Синдром Ваарденбурга, тип 4","Синдром Ваарденбурга-Гіршпрунга","WS4"],"definition":"Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon)."},"zh":{"name":"Waardenburg-Shah综合征","synonyms":["Waardenburg-Hirschsprung综合征"]},"tr":{"name":"Waardenburg-Shah sendromu","synonyms":["WS4","Shah-Waardenburg sendromu","Waardenburg sendromu tip 4","Waardenburg-Hirschsprung sendromu"]}},"xrefs":[{"source":"OMIM","code":"277580","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613265","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613266","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1420151003"},{"source":"MONDO","code":"0019518","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536467","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848519","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5524","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":918,"name":"ABCD syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183469,"name":"Genetic hypopigmentation of the skin","classifications":[156]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]},{"orpha":104009,"name":"Rare disease involving intestinal motility","classifications":[152,156,233]},{"orpha":557866,"name":"Rare disorder with Hirschsprung disease as a major feature","classifications":[147,156,182,233]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"EDN3","name":"endothelin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19764030[PMID]","hgnc":"3178","ensembl":"ENSG00000124205","omim":"131242","loci":["20q13.32"]},{"symbol":"EDNRB","name":"endothelin receptor type B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3180","ensembl":"ENSG00000136160","omim":"131244","loci":["13q22.3"]},{"symbol":"MITF","name":"melanocyte inducing transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30612693[PMID]","hgnc":"7105","ensembl":"ENSG00000187098","omim":"156845","loci":["3p13"]},{"symbol":"SOX10","name":"SRY-box transcription factor 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22378281[PMID]_24311220[PMID]","hgnc":"11190","ensembl":"ENSG00000100146","omim":"602229","loci":["22q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"Dr Véronique PINGAULT[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"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:0005214","label":"Intestinal obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002226","label":"White eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002227","label":"White eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002211","label":"White forelock","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001341","label":"Olfactory lobe agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null}]}}