{"orpha":894,"name":"Waardenburg syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["WS1","Waardenburg syndrome type I"],"definition":"A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-894/","orphanet_url":"https://www.orpha.net/en/disease/detail/894","names":{"fr":{"name":"Syndrome de Waardenburg type 1","synonyms":["Syndrome de Waardenburg type I","WS1"],"definition":"Le syndrome de Waardenburg type 1 (WS1) est un sous-type du syndrome de Waardenburg caractérisé par une surdité congénitale et des malformations mineures touchant des structures dérivées de la crête neurale, entraînant des anomalies de la pigmentation des yeux, des cheveux et de la peau, en association avec une dystopie canthale."},"de":{"name":"Waardenburg-Syndrom Typ 1","synonyms":["WS1","Waardenburg-Syndrom Typ I"],"definition":"Das Waardenburg-Syndrom Typ 1 (WS1) ist ein Subtyp des Waardenburg-Syndroms, das charakterisiert ist durch eine angeborene Taubheit und kleinere Defekte in den Strukturen, die sich aus der Neuralleiste entwickeln, und zu Pigmentanomalien der Augen, der Haare und der Haut führt in Kombination mit einer Dystopia canthorum."},"es":{"name":"Síndrome de Waardenburg tipo 1","synonyms":["Síndrome de Waardenburg tipo I","WS1"],"definition":"Es un subtipo del síndrome de Waardernburg (SW), caracterizado por sordera congénita y defectos menores en estructuras derivadas de la cresta neural, que resultan en anomalías en la pigmentación de ojos, cabello y piel, acompañadas de distopia cantorum."},"it":{"name":"Sindrome di Waardenburg, tipo 1","synonyms":["WS1"],"definition":"La sindrome di Waardenburg tipo 1 (WS1) è una forma della sindrome di Waardenburg caratterizzata da sordità congenita e difetti lievi nelle strutture che originano dalla cresta neurale, che causano anomalie nella pigmentazione degli occhi, dei capelli e della cute, associate alla distopia dei canti."},"nl":{"name":"Syndroom van Waardenburg type 1","synonyms":["Syndroom van Waardenburg type I","WS1"],"definition":"Een subtype van syndroom van Waardenburg (WS), gekarakteriseerd door congenitale doofheid en kleine defecten aan structuren die ontstaan uit de neurale lijst, met als gevolg anomalieën van de pigmentatie van ogen, haar, en huid, in combinatie met dystopia canthorum."},"pt":{"name":"Síndrome Waardenburg tipo 1","definition":"Subtipo da síndrome Waardenburg (SW) caracterizado por surdez congénita, defeitos menores em estruturas originadas a partir da crista neural, resultando em anomalias de pigmentação dos olhos, cabelo e pele, em combinação com distopia cantorum."},"pl":{"name":"Zespół Waardenburga typu 1","synonyms":["WS1","WS1","Zespół Waardenburga typu I"],"definition":"Podtyp zespołu Waardenburga charakteryzujący się wrodzoną głuchotą, niewielkimi defektami struktur wywodzących się z grzebienia nerwowego, co skutkuje anomaliami pigmentacji oczu, włosów i skóry, w połączeniu z dystopią canthorum."},"cs":{"name":"Waardenburgův syndrom, typ I","synonyms":["WS1"]},"uk":{"name":"Синдром Ваарденбурга, тип 1","synonyms":["Синдром Ваарденбурга, тип I","WS1"],"definition":"A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum."},"zh":{"name":"Waardenburg综合征1型","synonyms":["Waardenburg综合征1型"]},"tr":{"name":"Waardenburg sendromu tip 1","synonyms":["WS1","Waardenburg sendromu tip I"]}},"xrefs":[{"source":"OMIM","code":"193500","qualifier":"E","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":"547536187"},{"source":"MONDO","code":"0008670","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847800","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5519","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98575,"name":"Syndromic telecanthus","classifications":[147,156,189]},{"orpha":3440,"name":"Waardenburg syndrome","classifications":[147,156,187,200]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_Dr Véronique PINGAULT[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"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:0008527","label":"Congenital sensorineural hearing impairment","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":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","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:0011364","label":"White hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","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:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}