{"orpha":94122,"name":"Cerebellar ataxia, Cayman type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cayman ataxia"],"definition":"A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94122/","orphanet_url":"https://www.orpha.net/en/disease/detail/94122","names":{"fr":{"name":"Ataxie cérébelleuse type Caïman","synonyms":["Ataxie type Caïman"],"definition":"Ataxie cérébelleuse congénitale autosomique récessive rare caractérisée par une hypotonie présente dès la naissance, un retard psychomoteur marqué et un dysfonctionnement cérébelleux important (se manifestant par un nystagmus, un tremblement intentionnel, une dysarthrie, une démarche ataxique et une ataxie tronculaire), décrite dans une population isolée du Grand Cayman. Une hypoplasie cérébelleuse, observée par tomodensitométrie, peut être associée."},"de":{"name":"Zerebelläre Ataxie Typ Cayman","synonyms":["Cayman-Ataxie"],"definition":"Eine seltene, autosomal-rezessive, kongenitale Kleinhirnataxie, die durch Hypotonie von Geburt an, eine ausgeprägte psychomotorische Verzögerung und eine ausgeprägte Kleinhirnfunktionsstörung (manifestiert mit Nystagmus, Intentionstremor, Dysarthrie, ataktischem Gang und trunkaler Ataxie) gekennzeichnet ist und in einer isolierten Population auf den Caymaninseln beschrieben wurde. Eine zerebelläre Hypoplasie, die im CT-Scan beobachtet wird, kann assoziiert sein."},"es":{"name":"Ataxia cerebelosa tipo Cayman","definition":"Es un trastorno de ataxia cerebelosa congénita, autosómica recesiva, caracterizada por hipotonía desde el nacimiento, marcado retraso psicomotor y destacada disfunción cerebelosa (que se manifiesta con nistagmo, temblor intencional, disartria, marcha atáxica y ataxia troncal), descrita en una población aislada de la Isla de Gran Caimán. La hipoplasia cerebelosa, observada en la tomografía computarizada, puede estar asociada."},"it":{"name":"Atassia cerebellare tipo Cayman","synonyms":["Atassia, tipo Cayman"],"definition":"Si tratta di un'atassia cerebellare congenita rara, a trasmissione autosomica recessiva, caratterizzata da ipotonia congenita, ritardo psicomotorio marcato e grave disfunzione cerebellare (che esordisce con il nistagmo, il tremore intenzionale, la disartria, l'andatura atassica e l'atassia troncale). La malattia è stata descritta in una popolazione isolata dell'isola Grand Cayman. Può associarsi a ipoplasia cerebellare, visibile alla TAC."},"nl":{"name":"Cerebellaire ataxie, Cayman-type","synonyms":["Cayman-ataxie"],"definition":"Een zeldzame, autosomaal recessieve, congenitale, cerebellaire ataxie die wordt gekarakteriseerd door hypotonie vanaf de geboorte, duidelijke psychomotorische achterstand en aanzienlijke cerebellaire disfunctie (die zich manifesteert met nystagmus, intentietremor, dysartrie, ataxische gang en truncale ataxie), en die is beschreven in een geïsoleerde populatie op het eiland Grand Cayman. Cerebellaire hypoplasie, waargenomen op CT-scan, kan geassocieerd zijn."},"pt":{"name":"Ataxia cerebelosa, tipo Cayman","synonyms":["Ataxia de Cayman"]},"pl":{"name":"Ataksja móżdżkowa, typu Caymana","synonyms":["Ataksja Caymana"]},"cs":{"name":"Cerebelární ataxie, kajmanský typ","synonyms":["Kajmanská ataxie"]},"uk":{"name":"Мозочкова атаксія, тип Каймана","synonyms":["Кайманова атаксія"],"definition":"A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated."},"zh":{"name":"小脑性共济失调，Cayman型","synonyms":["Cayman共济失调"],"definition":"一种罕见的常染色体隐性遗传先天性小脑共济失调症，其特征是出生时肌张力低下、明显的精神运动迟缓和突出的小脑功能障碍（表现为眼球震颤、意向性震颤、构音障碍、共济失调步态和躯干共济失调）。CT扫描可能观察到小脑发育不全。"},"tr":{"name":"Serebellar ataksi, Cayman tipi","synonyms":["Cayman ataksisi"]}},"xrefs":[{"source":"OMIM","code":"601238","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011025","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832585","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98095,"name":"Autosomal recessive congenital cerebellar ataxia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATCAY","name":"ATCAY kinesin light chain interacting caytaxin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301317[PMID]_14556008[PMID]","hgnc":"779","ensembl":"ENSG00000167654","omim":"608179","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"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":"2018-05-30","source":"8845847[PMID]_14556008[PMID]","terms":[{"hpo":"HP:0002470","label":"Nonprogressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000479","label":"Abnormal retinal morphology","frequency":"Excluded (0%)","criteria":null}]}}