{"orpha":363432,"name":"Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency","SCAR18"],"definition":"A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363432/","orphanet_url":"https://www.orpha.net/en/disease/detail/363432","names":{"fr":{"name":"Ataxie cérébelleuse congénitale autosomique récessive par déficit en GRID2","synonyms":["Ataxie cérébelleuse autosomique récessive par déficit en sous-unité delta-2 du récepteur ionotrophique du glutamate","SCAR18"],"definition":"L'ataxie cérébelleuse congénitale autosomique récessive par déficit en GRID2 est une maladie neurodégénérative génétique rare, lentement progressive, causée par un déficit en GRID2. Elle se caractérise par un retard moteur, cognitif et de la parole, une hypotonie, une ataxie troncale et appendiculaire, ainsi que par des anomalies du mouvement oculaire (déviation tonique du regard vers le haut, nystagmus, apraxie oculomotrice). Un tremblement d'intention peut aussi être associé. L'imagerie cérébrale révèle une atrophie cérébelleuse progressive affectant surtout le flocculus cérébelleux."},"de":{"name":"Zerebelläre Ataxie durch GRID2-Mangel, autosomal-rezessive kongenitale","synonyms":["Autosomal-rezessive kongenitale zerebelläre Ataxie durch ionotropen Glutamatrezeptor delta-2-Untereinheiten-Mangel","SCAR18"],"definition":"Die autosomal-rezessiv vererbte kongenitale Kleinhirnataxie aufgrund eines GRID2-Mangels ist eine seltene, genetisch bedingte, langsam fortschreitende neurodegenerative Erkrankung, die gekennzeichnet ist durch motorische, sprachliche und kognitive Verzögerungen, Hypotonie, trunkale und appendikuläre Ataxie und Augenbewegungsanomalien (tonischer Aufblick, Nystagmus, okulomotorische Apraxie). Ein Intentionstremor kann ebenfalls assoziiert sein. Die Bildgebung des Gehirns zeigt eine fortschreitende Atrophie des Kleinhirns, wobei die Flocculi besonders betroffen ist."},"es":{"name":"Ataxia cerebelosa congénita autosómica recesiva por deficiencia de GRID2","synonyms":["Ataxia cerebelosa congénita autosómica recesiva por deficiencia de la subunidad delta 2 del receptor ionotrópico de glutamato","SCAR18"],"definition":"Es una enfermedad neurodegenerativa progresiva, genética y poco frecuente, que resulta de una deficiencia de <i>GRID2</i>. Está caracterizada por retraso motor, del habla y cognitivo, hipotonía, ataxia troncal y apendicular, anomalías del movimiento ocular (desviación tónica de la mirada hacia arriba, nistagmo, apraxia oculomotora). También puede estar asociada a temblor intencional. Las imágenes cerebrales revelan atrofia progresiva del cerebelo con el flóculo cerebeloso especialmente afectado."},"it":{"name":"Atassia cerebellare congenita autosomica recessiva da deficit di GRID2","synonyms":["Atassia cerebellare congenita autosomica recessiva da deficit della subunità delta-2 del recettore ionotropico del glutammato","SCAR18"],"definition":"L'atassia cerebellare congenita autosomica recessiva da deficit di GRID2 è una malattia neurodegenerativa rara, a progressione lenta, di origine genetica, causata da un deficit di GRID2. È caratterizzata da ritardo motorio, cognitivo e del linguaggio, ipotonia, atassia appendicolare e del tronco e anomalie dei movimenti degli occhi (sguardo verso l'alto tonico, nistagmo e aprassia oculomotoria). Può associarsi il tremore intenzionale. Le immagini diagnostiche del cervello evidenziano una atrofia cerebellare progressiva, con interessamento predominante dei flocculi del cervelletto."},"nl":{"name":"Autosomaal recessieve congenitale cerebellaire ataxie door GRID2-deficiëntie","synonyms":["Autosomaal recessieve congenitale cerebellaire ataxie door deficiëntie van de ionotrope glutamaatreceptor delta-2-subeenheid","SCAR18"],"definition":"Een zeldzame, genetische, traag progressieve neurodegeneratieve ziekte als gevolg van GRID2-deficiëntie, gekarakteriseerd door motorische, spraak- en cognitieve achterstand, hypotonie, truncale en appendiculaire ataxie, en afwijkingen van de oogbewegingen (tonisch omhoog draaien van de ogen, nystagmus, oculomotorische apraxie). Intentietremor kan ook geassocieerd zijn. Beeldvorming van de hersenen toont progressieve cerebellaire atrofie die vooral de cerebellaire flocculus treft."},"pt":{"name":"Ataxia cerebelosa congénita autossómica recessiva por deficiência de GRID2"},"pl":{"name":"Autosomalna recesywna wrodzona ataksja móżdżkowa z powodu niedoboru GRID2","synonyms":["Autosomalna recesywna wrodzona ataksja móżdżkowa z powodu niedoboru podjednostki delta-2 jonotropowego receptora glutaminianu","SCAR18"]},"cs":{"name":"Autozomálně recesivní vrozená mozečková ataxie způsobená deficitem GRID2","synonyms":["SCAR18","Autozomálně recesivní vrozená mozečková ataxie způsobená deficitem delta-2 podjednotky ionotropního glutamátového receptoru"]},"uk":{"name":"Аутосомно-рецесивна вроджена мозочкова атаксія, зумовлена дефіцитом гена GRID2","synonyms":["Аутосомно-рецесивна вроджена мозочкова атаксія внаслідок дефіциту дельта-2 субодиниці іонотропного глутаматного рецептора","SCAR18"],"definition":"A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected."},"zh":{"name":"GRID2基因缺陷所致常染色体隐性先天性小脑共济失调","synonyms":["Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency","SCAR18"],"definition":"本病是一种罕见的遗传性缓慢进行性神经退行性疾病，由GRID2缺乏引起，其特征为运动、言语和认知延迟、张力减退、躯干和四肢共济失调以及眼球运动异常(强直性上视、眼球震颤、动眼神经失用)。意向震颤也可能与本病有关。MRI成像显示进行性小脑萎缩，小脑小叶所受影响最多。"},"tr":{"name":"GRID2 eksikliğine bağlı otozomal resesif doğumsal serebellar ataksi","synonyms":["İyonotropik glutamat reseptörü delta-2 alt birim eksikliğine bağlı otozomal çekinik doğumsal serebellar ataksi","SCAR18"]}},"xrefs":[{"source":"OMIM","code":"616204","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014530","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015505","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":363429,"name":"Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome","classifications":[150,156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GRID2","name":"glutamate ionotropic receptor delta type subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23611888[PMID]","hgnc":"4576","ensembl":"ENSG00000152208","omim":"602368","loci":["4q22.1-q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"23611888[PMID]_24078737[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-14","source":"24078737[PMID]","terms":[{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null}]}}