{"orpha":1766,"name":"Dysequilibrium syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAMRQ syndrome","Cerebellar ataxia-intellectual disability-dysequilibrium syndrome","Non-progressive cerebellar ataxia-intellectual disability syndrome","UTS","Uner Tan syndrome"],"definition":"Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1766/","orphanet_url":"https://www.orpha.net/en/disease/detail/1766","names":{"fr":{"name":"Syndrome dysequilibrium","synonyms":["Syndrome Uner Tan","Syndrome d'ataxie cérébelleuse non progressive-déficience intellectuelle","UTS"],"definition":"Maladie cérébelleuse non progressive caractérisée par une ataxie associée à une déficience intellectuelle, un retard d'acquisition de la marche et une hypoplasie cérébelleuse."},"de":{"name":"Dysäquilibrium-Syndrom","synonyms":["CAMRQ-Syndrom","Nicht-progressive zerebelläre Ataxie mit Intelligenzminderung","UTS","Uner Tan-Syndrom","Zerebelläre Ataxie-Intelligenzminderung-Dysäquilibriumsyndrom-Syndrom"],"definition":"Das Dysäquilibrium-Syndrom ist eine nicht-progrediente Erkrankung des Kleinhirns. Charakteristisch sind eine Ataxie, geistige Behinderung, verzögert einsetzende Gehfähigkeit und eine Hypoplasie des Zerebellums."},"es":{"name":"Síndrome de desequilibrio","synonyms":["Síndrome CAMRQ","Síndrome de Uner Tan","Síndrome de ataxia cerebelosa no progresiva-discapacidad intelectual","Síndrome de ataxia cerebelosa-discapacidad intelectual-desequilibrio"],"definition":"El síndrome de desequilibrio (DES) es un trastorno cerebeloso no progresivo caracterizado por ataxia asociada con discapacidad intelectual, retraso de la marcha e hipoplasia cerebelosa."},"it":{"name":"Sindrome da disequilibrio","synonyms":["Sindrome Uner Tan","Atassia cerebellare non progressiva - deficit cognitivo","Sindrome CAMRQ","Sindrome atassia cerebellare-deficit cognitivo-disequilibrio","Sindrome da atassia cerebellare non progressiva- deficit cognitivo","UTS"],"definition":"La sindrome da disequilibrio (DES) è una malattia cerebellare non progressiva, caratterizzata da atassia associata a disabilità cognitiva, ritardo nella deambulazione e ipoplasia cerebellare."},"nl":{"name":"Disequilibriumsyndroom","synonyms":["CAMRQ-syndroom","Cerebellaire ataxie - intellectuele achterstand - disequilibriumsyndroom-syndroom","Niet-progressieve cerebellaire ataxie - intellectuele achterstand-syndroom","Onevenwichtigheidsyndroom","Syndroom van Uner Tan","UTS"],"definition":"Dysequilibriumsyndroom (DES) is een niet-progressieve cerebellaire aandoening die gekarakteriseerd wordt door ataxie geassocieerd met intellectuele achterstand, loopachterstand en cerebellaire hypoplasie."},"pt":{"name":"Síndrome de desequilíbrio","synonyms":["Sindrome de ataxia cerebelosa-perturbação do desenvolvimento intelectual-desequilibrio","Síndrome CAMRQ","Síndrome Uner Tan","Síndrome de ataxia cerebelosa não-progressiva-perturbação do desenvolvimento intelectual","UTS"]},"pl":{"name":"Zespół niewyrównania","synonyms":["Ataksja móżdżkowa niepostępująca - niepełnosprawność intelektualna","Zespół ataksja móżdżkowa - niepełnosprawność intelektualna - zaburzenia równowagi","Zespół CAMRQ"],"definition":"Zespół niewyrównania (Dysequilibrium syndrome-DES) to niepostępujące zaburzenie móżdżku charakteryzujące się ataksją z towarzyszącą niepełnosprawnością intelektualną, opóźnieniem chodu i hipoplazją móżdżku."},"cs":{"name":"Dysequilibrium syndrom","synonyms":["CAMRQ syndrom","Syndrom zahrnující mozečkovou ataxii, mentální retardaci a syndrom nerovnováhy","Syndrom zahrnující neprogresivní mozečkovou ataxii a mentální retardaci"]},"uk":{"name":"Дизеквілібріум синдром","synonyms":["Синдром CAMRQ","Синдром мозочкової атаксії - інтелектуальної недостатності - дисбалансу","Синдром непрогресуючої мозочкової атаксії-інтелектуальної недостатності","Синдром Унера Тана","UTS"],"definition":"Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia."},"zh":{"name":"平衡感觉紊乱综合征","synonyms":["小脑共济失调-智力障碍-平衡感觉紊乱综合征"]},"tr":{"name":"Dengesizlik sendromu","synonyms":["UTS","CAMRQ sendromu","Üner Tan sendromu","ilerleyici olmayan serebellar ataksi-zihinsel yetersizlik sendromu","Serebellar ataksi-zihinsel yetersizlik-dengesizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"224050","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"610185","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613227","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615268","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009133","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535731","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0394006","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1998","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10013140","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":"ATP8A2","name":"ATPase phospholipid transporting 8A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22892528[PMID]","hgnc":"13533","ensembl":"ENSG00000132932","omim":"605870","loci":["13q12.13"]},{"symbol":"CA8","name":"carbonic anhydrase 8 (inactive)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21812104[PMID]","hgnc":"1382","ensembl":"ENSG00000178538","omim":"114815","loci":["8q12.1"]},{"symbol":"TUBB2B","name":"tubulin beta 2B class IIb","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28013290[PMID]","hgnc":"30829","ensembl":"ENSG00000137285","omim":"612850","loci":["6p25.2"]},{"symbol":"VLDLR","name":"very low density lipoprotein receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21885617[PMID]","hgnc":"12698","ensembl":"ENSG00000147852","omim":"192977","loci":["9p24.2"]},{"symbol":"WDR81","name":"WD repeat domain 81","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21885617[PMID]","hgnc":"26600","ensembl":"ENSG00000167716","omim":"614218","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22973972[PMID]_21885617[PMID]_19461874[PMID]_22892528[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":51.0,"area":"Worldwide","status":"Validated","source":"Dr Kym Boycott[EXPERT]_22973972[PMID]_21885617[PMID]_19461874[PMID]_22892528[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:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null}]}}