{"orpha":1180,"name":"Ataxia-hypogonadism-choroidal dystrophy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Boucher-Neuhäuser syndrome"],"definition":"A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1180/","orphanet_url":"https://www.orpha.net/en/disease/detail/1180","names":{"fr":{"name":"Syndrome d'ataxie-hypogonadisme-dystrophie choroïdienne","synonyms":["Syndrome de Boucher-Neuhäuser"],"definition":"Le syndrome d'ataxie-hypogonadisme-dystrophie choroïdienne est une maladie neurodégénératve lentement progressive très rare, autosomique récessive, caractérisée par la triade d'ataxie cérébelleuse (se manifestant généralement à l'adolescence ou au début de l'âge adulte), de dystrophie choriorétienne pouvant se manifester tardivement (jusqu'à la cinquième ou la sixième décennie), conduisant à des degrés variables de troubles visuels, et d'hypogonadisme hypogonadotrope (puberté retardée et absence de caractères sexuels secondaires). Le syndrome appartient à un continuum clinique de maladies neurodégénératives, tout comme le syndrome d'ataxie cérébelleuse-hypogonadisme dont il partage des signes cliniques."},"de":{"name":"Ataxie-Hypogonadismus-chorioretinale Dystrophie-Syndrom","synonyms":["Boucher-Neuhäuser-Syndrom"]},"es":{"name":"Síndrome de ataxia-hipogonadismo-distrofia coroidea","synonyms":["Síndrome de Boucher-Neuhäuser"],"definition":"Es un trastorno autosómico recesivo muy poco frecuente. Se trata de un síndrome neurodegenerativo de progresión lenta caracterizado por la tríada de ataxia cerebelosa (que generalmente se manifiesta en la adolescencia o en la edad adulta temprana), distrofia coriorretiniana, que puede tener una aparición más tardía (hasta la quinta o sexta década) llevando a grados variables de afectación visual e hipogonadismo hipogonadotrópico (retraso puberal y ausencia de caracteres sexuales secundarios). El síndrome de ataxia-hipogonadismo-distrofia coroidea pertenece a un continuo clínico de trastornos neurodegenerativos junto con el síndrome de ataxia cerebelosa-hipogonadismo."},"it":{"name":"Atassia - ipogonadismo - distrofia coroideale","synonyms":["Sindrome di Boucher-Neuhäuser"],"definition":"La sindrome atassia-ipogonadismo-distrofia coroideale è una malattia neurodegenerativa autosomica recessiva a progressione lenta molto rara, caratterizzata dalla triade atassia cerebellare (che di solito esordisce durante l'adolescenza o nella prima età adulta), distrofia corioretinica (che può esordire più tardi, fino alla quinta-sesta decade di vita, e che comporta gradi diversi di compromissione della vista) e ipogonadimso ipogonadotropo (ritardo della pubertà, assenza di caratteri sessuali secondari). La sindrome atassia-ipogonadismo-distrofia coroideale fa parte di un continuum clinico di malattie neurodegenerative e della sindrome atassia cerebellare-ipogonadismo (si veda questo termine), che è clinicamente sovrapponibile."},"nl":{"name":"Ataxie - hypogonadisme - choroïdale dystrofie-syndroom","synonyms":["Syndroom van Boucher-Neuhauser"],"definition":"Een zeer zeldzame, autosomaal recessieve, traag progressieve neurodegeneratieve aandoening, gekarakteriseerd door de triade van cerebellaire ataxie (die zich doorgaans manifesteert tijdens de adolescentie of vroege volwassenheid), chorioretinale dystrofie, die later kan aanvangen (tot tijdens het vijfde levensdecennium) en leidt tot variabele gradaties van verlies van gezichtsvermogen, en hypogonadotroop hypogonadisme (uitgestelde puberteit en gebrek aan secundaire geslachtskenmerken). Ataxie - hypogonadisme - choroïdale dystrofie-syndroom behoort tot een klinisch continuüm van neurodegeneratieve aandoeningen, samen met het klinisch overlappende cerebellaire ataxie - hypogonadisme-syndroom."},"pt":{"name":"Síndrome de ataxia-hipogonadismo-distrofia da coróide","synonyms":["Síndrome Boucher-Neuhäuser"]},"pl":{"name":"Ataksja - hypogonadyzm - dystrofia błony naczyniowej","synonyms":["Zespół Bouchera i Neuhäusera"]},"cs":{"name":"Syndrom zahrnující ataxii, hypogonadismus a choroidální dystrofii","synonyms":["Boucherové-Neuhäuserův syndrom","Boucher-Neuhäuserův syndrom"]},"uk":{"name":"Синдром атаксії-гіпогонадизму-хоріоїдальної дистрофії","synonyms":["Синдром Буше-Нойхаузера"],"definition":"A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term)."},"zh":{"name":"共济失调-性腺功能减退-脉络膜营养不良综合征","synonyms":["Boucher-Neuhäuser综合征"]},"tr":{"name":"Ataksi-hipogonadizm-koroid distrofisi sendromu","synonyms":["Boucher-Neuhäuser sendromu"]}},"xrefs":[{"source":"OMIM","code":"215470","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008980","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565850","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859093","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"944","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":716342,"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PNPLA6","name":"patatin like domain 6, lysophospholipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24355708[PMID]","hgnc":"16268","ensembl":"ENSG00000032444","omim":"603197","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"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:0001135","label":"Chorioretinal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null}]}}