{"orpha":998,"name":"Albinism-deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Albinism-hearing loss syndrome"],"definition":"A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-998/","orphanet_url":"https://www.orpha.net/en/disease/detail/998","names":{"fr":{"name":"Syndrome d'albinisme-surdité","definition":"Le syndrome d'albinisme-surdité est caractérisé par une surdité de perception et un albinisme partiel (pie) sans albinisme oculaire. Il a été décrit au sein d'une grande famille. La transmission est liée à l'X et les individus atteints de sexe masculin présentent une surdité neurosensorielle sévère et d'importantes anomalies de la peau. Les femmes porteuses de la maladie ont un défaut de l'audition de sévérité variable mais aucune anomalie pigmentaire. Le gène responsable a été localisé en Xq26.3-q27.1."},"de":{"name":"Albinismus-Schwerhörigkeit-Syndrom","synonyms":["ADFN","Albinismus-Taubheit-Syndrom"],"definition":"Symptome des Albinismus-Taubheit-Syndroms (ADFN) sind kongenitale sensorisch-neurale Schwerhörigkeit und Piebaldismus ohne okulären Albinismus."},"es":{"name":"Síndrome de albinismo-sordera","synonyms":["Síndrome de albinismo-hipoacusia"],"definition":"Es un trastorno poco frecuente caracterizado por sordera neurosensorial congénita y pibaldismo sin albinismo ocular. Se ha descrito en una familia extensa. La herencia está ligada al cromosoma X. Los varones afectados presentan sordera neurosensorial profunda y anomalías pigmentarias graves en la piel. Las mujeres portadoras presentan hipoacusia variable sin cambios pigmentarios. El gen causal ha sido localizado en la región cromosómica Xq26.3-q27.1."},"it":{"name":"Albinismo - sordità"},"nl":{"name":"Albinisme - doofheid-syndroom","definition":"Een zeldzame aandoening gekarakteriseerd door congenitale sensorineurale doofheid en piebaldisme zonder oculair albinisme. Het werd beschreven bij één grote familie. Overdracht is X-gebonden, en getroffen mannen presenteren zich met zeer ernstige sensorineurale doofheid en ernstige pigmentafwijkingen van huid, terwijl vrouwelijke dragers variabele slechthorendheid zonder enige pigmentveranderingen vertonen. Het causale gen werd gekoppeld aan Xq26.3-q27.1."},"pt":{"name":"Síndrome de albinismo-surdez"},"pl":{"name":"Zespół głuchoty i albinizmu","synonyms":["Albinism-hearing loss syndrome"]},"cs":{"name":"Syndrom zahrnující albinismus a hluchotu","synonyms":["Albinism-hearing loss syndrome"]},"uk":{"name":"Синдром альбінізму-глухоти","synonyms":["Синдром альбінізму-втрати слуху"],"definition":"A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1."},"zh":{"name":"白化病-耳聋综合征","synonyms":["白化病-听力丧失综合征"]},"tr":{"name":"Albinizm-sağırlık sendromu","synonyms":["Albinizm-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"300700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H90.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1983697023"},{"source":"MONDO","code":"0010403","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537042","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845068","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"589","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":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"14469778[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14469778[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007443","label":"Partial albinism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007544","label":"Piebaldism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Occasional (29-5%)","criteria":null}]}}