{"orpha":42665,"name":"Tietz syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hypopigmentation-deafness syndrome","Hypopigmentation-hearing loss syndrome"],"definition":"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-42665/","orphanet_url":"https://www.orpha.net/en/disease/detail/42665","names":{"fr":{"name":"Syndrome de Tietz","synonyms":["Syndrome d'hypopigmentation-surdité"],"definition":"Le syndrome de Tietz est une maladie génétique se manifestant par une surdité et une hypopigmentation. Il est caractérisé par une surdité neurosensorielle bilatérale profonde congénitale et une hypopigmentation généralisée de la peau, des yeux et des cheveux, de type albinisme."},"de":{"name":"Tietz-Syndrom","definition":"Das Tietz-Syndrom ist ein genetisch bedingtes Hypopigmentierungs- und Hörverlustsyndrom, das durch einen angeborenen, beidseitigen, schweren Hörverlust und eine Albinismus-artige, generalisierte Hypopigmentierung von Haut, Augen und Haaren charakterisiert ist."},"es":{"name":"Síndrome de Tietz","synonyms":["Síndrome de hipopigmentación-hipoacusia","Síndrome de hipopigmentación-sordera"],"definition":"El síndrome de Tietz es un síndrome genético de hipopigmentación y sordera caracterizado por una pérdida auditiva neurosensorial profunda bilateral congénita y una hipopigmentación tipo albinismo generalizada de la piel, ojos y cabello."},"it":{"name":"Sindrome di Tietz","synonyms":["Sindrome ipopigmentazione-sordità"],"definition":"La sindrome di Tietz è una malattia genetica con ipopigmentazione e sordità, caratterizzata da sordità neurosensoriale profonda bilaterale congenita e ipopigmentazione generalizzata della cute, degli occhi e dei capelli, simile all'albinismo."},"nl":{"name":"Syndroom van Tietz","synonyms":["Hypopigmentatie - doofheid-syndroom","Hypopigmentatie - gehoorverlies-syndroom"],"definition":"Syndroom van Tietz is een genetisch syndroom met hypopigmentatie en doofheid dat gekarakteriseerd wordt door congenitaal ernstig bilateraal sensorineuraal gehoorverlies en gegeneraliseerde albino-achtige hypopigmentatie van huid, ogen en haar."},"pt":{"name":"Síndrome Tietz","synonyms":["Síndrome hipopigmentação-perda auditiva","Síndrome hipopigmentação-surdez"]},"pl":{"name":"Zespół Tietza","synonyms":["Zespół hipopigmentacja-głuchota"]},"cs":{"name":"Tietzův syndrom zahrnující albinismus a hluchotu","synonyms":["Syndrom zahrnující hypopigmentaci a hluchotu","TADS"]},"uk":{"name":"Синдром Тітца","synonyms":["Синдром гіпопігментації-глухоти","Синдром гіпопігментації-туговухості"],"definition":"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair."},"zh":{"name":"Tietz综合征","synonyms":["色素沉着-听力丧失综合征"]},"tr":{"name":"Tietz sendromu","synonyms":["Hipopigmentasyon-sağırlık sendromu","Hipopigmentasyon-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"103500","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":"1688980852"},{"source":"MONDO","code":"0007077","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536919","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0391816","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7772","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":79376,"name":"Hypopigmentation of the skin","classifications":[187]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"MITF","name":"melanocyte inducing transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10851256[PMID]","hgnc":"7105","ensembl":"ENSG00000187098","omim":"156845","loci":["3p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23020089[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23020089[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-17","source":null,"terms":[{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","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:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002226","label":"White eyebrow","frequency":"Very frequent (99-80%)","criteria":null}]}}