{"orpha":1065,"name":"Aniridia-cerebellar ataxia-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Gillespie syndrome"],"definition":"A rare genetic developmental and neurological disorder characterized by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1065/","orphanet_url":"https://www.orpha.net/en/disease/detail/1065","names":{"fr":{"name":"Syndrome d'aniridie-ataxie cérébelleuse-déficience intellectuelle","synonyms":["Syndrome de Gillespie"],"definition":"Maladie génétique, neurologique et du développement rare, caractérisée par l'association d'une aniridie bilatérale partielle (ou hypoplasie de l'iris), avec une ataxie cérébelleuse non progressive, une déficience intellectuelle et une hypotonie congénitale."},"de":{"name":"Aniridie-zerebelläre Ataxie-Intelligenzminderung-Syndrom","synonyms":["Gillespie-Syndrom"],"definition":"Eine seltene genetische Entwicklungs- und neurologische Störung, die durch die Assoziation einer partiellen bilateralen Aniridie (oder Iris-Hypoplasie) mit nicht-progredienter zerebellärer Ataxie, Intelligenzminderung und kongenitaler Hypotonie gekennzeichnet ist."},"es":{"name":"Síndrome de aniridia-ataxia cerebelosa-discapacidad intelectual","synonyms":["Síndrome de Gillespie"],"definition":"Es un trastorno neurológico y del desarrollo poco frecuente de origen genético caracterizado por la asociación de aniridia (o hipoplasia del iris) bilateral parcial, con ataxia cerebelosa no progresiva, discapacidad intelectual e hipotonía congénita."},"it":{"name":"Sindrome aniridia-atassia cerebellare-disabilità cognitiva","synonyms":["Sindrome di Gillespie"],"definition":"La sindrome aniridia-atassia cerebellare-disabilità cognitiva, nota anche come sindrome di Gillespie, è una malattia neurologica congenita rara, caratterizzata dall'associazione tra aniridia bilaterale parziale, atassia cerebellare non progressiva e disabilità cognitiva."},"nl":{"name":"Aniridie - cerebellaire ataxie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Gillespie"],"definition":"Een zeldzame genetische ontwikkelingsstoornis en neurologische aandoening, gekenmerkt door de associatie van partiële bilaterale aniridie (of hypoplasie van iris), met niet-progressieve cerebellaire ataxie, intellectuele achterstand, en congenitale hypotonie."},"pt":{"name":"Síndrome de aniridia-ataxia cerebelosa-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Gillespie"]},"pl":{"name":"Brak tęczówki - ataksja móżdźkowa - niepełnosprawność intelektualna","synonyms":["Zespół Gillespie"]},"cs":{"name":"Syndrom zahrnující aniridii, cerebelární ataxii a mentální retardaci","synonyms":["Gillespieho syndrom"]},"uk":{"name":"Синдром аніридії - мозочкової атаксії - інтелектуальної недостатності","synonyms":["Синдром Гіллеспі"],"definition":"A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability."},"zh":{"name":"无虹膜症-小脑共济失调-智力障碍综合征","synonyms":["Gillespie综合征"]},"tr":{"name":"Aniridia-serebellar ataksi-zihinsel yetersizlik sendromu","synonyms":["Gillespie sendromu"]}},"xrefs":[{"source":"OMIM","code":"206700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008795","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536370","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431401","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083858","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98557,"name":"Syndromic aniridia","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"ITPR1","name":"inositol 1,4,5-trisphosphate receptor type 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27108797[PMID]_27108798[PMID]","hgnc":"6180","ensembl":"ENSG00000150995","omim":"147265","loci":["3p26.1"]},{"symbol":"PAX6","name":"paired box 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17595013[PMID]_17148041[PMID]","hgnc":"8620","ensembl":"ENSG00000007372","omim":"607108","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"27108797[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27108797[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000526","label":"Aniridia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002168","label":"Scanning speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}