{"orpha":3440,"name":"Waardenburg syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term ''Waardenburg syndrome'' (WS).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3440/","orphanet_url":"https://www.orpha.net/en/disease/detail/3440","names":{"fr":{"name":"Syndrome de Waardenburg","definition":"Anomalies congénitales multiples rares d'origine génétique caractérisées par une surdité et des malformations des structures dérivées de la crête neurale, notamment des anomalies de la pigmentation des yeux, des cheveux et de la peau. Quatre phénotypes cliniques sont associés au terme « syndrome de Waardenburg » (SW)."},"de":{"name":"Waardenburg-Syndrom","synonyms":["WS"],"definition":"Eine seltenes kongenitales Syndrom mit multiplen Anomalien, das durch Taubheit und Defekte in den von der Neuralleiste abgeleiteten Strukturen gekennzeichnet ist, einschließlich Pigmentierungsanomalien der Augen, der Haare und der Haut. Vier klinische Phänotypen werden mit dem Begriff ,,Waardenburg-Syndrom'' (WS) in Verbindung gebracht."},"es":{"name":"Síndrome de Waardenburg","definition":"Es una anomalía congénita múltiple de origen genético poco frecuente caracterizada por sordera y defectos en las estructuras derivadas de la cresta neural, incluyendo anomalías de la pigmentación de los ojos, del cabello y de la piel. Hay cuatro fenotipos clínicos asociados con el término \"síndrome de Waardenburg\" (SW)."},"it":{"name":"Sindrome di Waardenburg","definition":"La sindrome di Waardenburg (WS) è una malattia caratterizzata da sordità di grado variabile e difetti minori delle strutture che originano dalla cresta neurale, che causano anomalie della pigmentazione degli occhi, dei capelli e della pelle. La WS comprende quattro fenotipi clinici e genetici diversi."},"nl":{"name":"Syndroom van Waardenburg","definition":"Een zeldzaam genetisch syndroom met multipele congenitale anomalieën, gekenmerkt door doofheid en defecten in structuren afgeleid van de neurale lijst, waaronder anomalieën van de pigmentatie van de ogen, het haar en de huid. Er zijn vier klinische fenotypes geassocieerd met de term ''syndroom van Waardenburg'' (WS)."},"pt":{"name":"Síndrome Waardenburg"},"pl":{"name":"Zespół Waardenburga"},"cs":{"name":"Waardenburgův syndrom"},"uk":{"name":"Синдром Ваарденбурга","definition":"Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes."},"zh":{"name":"Waardenburg综合征"},"tr":{"name":"Waardenburg sendromu"}},"xrefs":[{"source":"OMIM","code":"148820","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"193500","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EC23.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"304883627"},{"source":"MONDO","code":"0018094","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014849","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3266898","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5525","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069203","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183469,"name":"Genetic hypopigmentation of the skin","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[{"orpha":894,"name":"Waardenburg syndrome type 1","type":"Clinical subtype"},{"orpha":895,"name":"Waardenburg syndrome type 2","type":"Clinical subtype"},{"orpha":896,"name":"Waardenburg syndrome type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":895,"name":"Waardenburg syndrome type 2"}},{"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"],"via":{"orpha":895,"name":"Waardenburg syndrome type 2"}},{"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"],"via":{"orpha":895,"name":"Waardenburg syndrome type 2"}},{"symbol":"PAX3","name":"paired box 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301703[PMID]","hgnc":"8617","ensembl":"ENSG00000135903","omim":"606597","loci":["2q36.1"],"via":{"orpha":894,"name":"Waardenburg syndrome type 1"}},{"symbol":"PAX3","name":"paired box 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8447316[PMID]_7726174[PMID]_12949970[PMID]","hgnc":"8617","ensembl":"ENSG00000135903","omim":"606597","loci":["2q36.1"],"via":{"orpha":896,"name":"Waardenburg syndrome type 3"}},{"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"],"via":{"orpha":895,"name":"Waardenburg syndrome type 2"}},{"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"],"via":{"orpha":895,"name":"Waardenburg syndrome type 2"}},{"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"],"via":{"orpha":895,"name":"Waardenburg syndrome type 2"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.37,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.74,"area":"United States","status":"Not yet validated","source":"9279758[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"Netherlands","status":"Validated","source":"9279758[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Netherlands","status":"Not yet validated","source":"9279758[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-04","source":"32809714[PMID]_31375308[PMID]_20127975[PMID]_20301703[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002211","label":"White forelock","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100811","label":"Aplasia/Hypoplasia of the colon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000635","label":"Blue irides","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034391","label":"Elbow contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008568","label":"Vestibular areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002227","label":"White eyelashes","frequency":"Occasional (29-5%)","criteria":null}]}}