{"orpha":85297,"name":"X-linked spinocerebellar ataxia type 3","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SCAX3","X-linked ataxia-deafness syndrome","X-linked ataxia-hearing loss syndrome"],"definition":"X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85297/","orphanet_url":"https://www.orpha.net/en/disease/detail/85297","names":{"fr":{"name":"Ataxie spinocérébelleuse liée à l'X type 3","synonyms":["SCAX3","Syndrome d'ataxie-surdité lié à l'X"],"definition":"Ataxie spinocérébelleuse liée à l'X type 3 est une dégénérescence spinocérébelleuse caractérisée par une hypotonie, une ataxie, une surdité neuro-sensorielle, un retard de développement, une ésotropie, et une atrophie optique. Ces symptômes, débutant dans la petite enfance, conduisent au décès des enfants atteints. Ce syndrome a été décrit dans une famille comprenant au moins six garçons atteints, dans cinq fratries différentes (liées entre elles par des femmes conductrices). Il se transmet sur le mode récessif lié à l'X."},"de":{"name":"Ataxie, spinozerebelläre X-chromosomale, Typ 3","synonyms":["Ataxie-Schwerhörigkeit-Syndrom, X-chromosomales","SCAX3"],"definition":"Dieses Syndrom ist eine Form von spinozerebellärer Degeneration mit Beginn im Kleinkindalter. Symptome sind Muskelhypotonie, Ataxie, sensorineurale Schwerhörigkeit, Entwicklungsverzögerung, Strabismus und Optikusatrophie. Die Krankheit ist progredient und führt im Kindesalter zum Tod."},"es":{"name":"Ataxia espinocerebelosa ligada al cromosoma X tipo 3","synonyms":["SCAX3","Síndrome de hipoacusia-ataxia ligada al cromosoma X","Síndrome de sordera-ataxia ligada al cromosoma X"],"definition":"Es una forma de degeneración espinocerebelosa caracterizada por el inicio en el lactante de hipotonía, ataxia, sordera neurosensorial, retraso del desarrollo, esotropía y atrofia óptica, y por un curso progresivo que conduce al fallecimiento en la infancia. Se ha descrito una familia con al menos seis varones afectos de cinco hermandades diferentes (emparentados a través de mujeres portadoras). Se transmite como un rasgo recesivo ligado al cromosoma X."},"it":{"name":"Atassia spinocerebellare legata all'X, tipo 3","synonyms":["SCAX3","Sindrome atassia- sordità, legata all'X"]},"nl":{"name":"X-gebonden spinocerebellaire ataxie type 3","synonyms":["SCAX3","X-gebonden ataxie - doofheid-syndroom","X-gebonden ataxie - gehoorverlies-syndroom"],"definition":"Een vorm van spinocerebellaire degeneratie, gekenmerkt door aanvang in de zuigelingentijd van hypotonie, ataxie, sensorineurale doofheid, ontwikkelingsachterstand, esotropie, en opticusatrofie, en door een progressief verloop dat lijdt tot sterfte in de kindertijd. Het werd beschreven bij één familie met minstens zes getroffen mannen uit vijf verschillende broer/zus-verwantschappen (verbonden door vrouwelijke dragers). De aandoening wordt overgedragen als een X-gebonden recessief kenmerk."},"pt":{"name":"Ataxia espinocerebelosa ligada ao X tipo 3"},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 3 sprzężona z chromosomem X","synonyms":["SCAX3","Zespół ataksja sprzężona z chromosomem X - głuchota"]},"cs":{"name":"X-vázaná spinocerebelární ataxie, typ 3","synonyms":["SCAX3","X-vázaný syndrom zahrnující ataxii a hluchotu"]},"uk":{"name":"Х-зчеплена спіноцеребеллярна атаксія, тип 3","synonyms":["SCAX3","Х-зчеплений синдром атаксії-глухоти","Х-зчеплений синдром атаксії та втрати слуху"],"definition":"X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait."},"zh":{"name":"X连锁脊髓小脑共济失调3型","synonyms":["X-连锁共济失调-听力丧失综合征"]},"tr":{"name":"X'e bağlı spinoserebellar ataksi tip 3","synonyms":["SCAX3","X'e bağlı ataksi sağırlık sendromu","X'e bağlı ataksi işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"301790","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"261426817"},{"source":"MONDO","code":"0010529","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537315","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844936","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9981","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":247765,"name":"X-linked cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"3614654[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3614654[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}