{"orpha":314647,"name":"Non-progressive cerebellar ataxia with intellectual disability","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314647/","orphanet_url":"https://www.orpha.net/en/disease/detail/314647","names":{"fr":{"name":"Ataxie cérébelleuse non progressive avec déficience intellectuelle","definition":"Sous-type rare d'ataxie cérébelleuse autosomique dominante type&nbsp;1 (ADCA type&nbsp;1) caractérisé par l'apparition dans la petite enfance d'une ataxie cérébelleuse, d'une hypotonie néonatale (dans certains cas), d'un léger retard de développement et, plus tard dans la vie, d'une déficience intellectuelle. Les caractéristiques les moins courantes sont une dysarthrie, une dysmétrie et une dysmorphie faciale (visage allongé, nez bulbeux, philtrum long, lèvre inférieure épaisse et menton pointu)."},"de":{"name":"Zerebelläre Ataxie, nicht-progressive, mit Intelligenzminderung","synonyms":["CANPMR"],"definition":"Ein seltener Subtyp der autosomal-dominanten zerebellären Ataxie Typ 1 (ADCA Typ 1), der durch das Auftreten einer zerebellären Ataxie im Säuglingsalter, einer neonatalen Hypotonie (in einigen Fällen), einer leichten Entwicklungsverzögerung und einer Intelligenzminderung im späteren Leben gekennzeichnet ist. Zu den weniger häufigen Merkmalen gehören Dysarthrie, Dysmetrie und Gesichtsdysmorphien (langes Gesicht, Knollennase, langes Philtrum, dicke Unterlippe und spitzes Kinn)."},"es":{"name":"Ataxia cerebelosa no progresiva con discapacidad intelectual","definition":"Es un subtipo poco frecuente de la ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo 1; consulte este término) caracterizado por la aparición de ataxia cerebelosa en la infancia, hipotonía neonatal (en algunos casos), leve retraso del desarrollo y, a edades más avanzadas, discapacidad intelectual. Algunos rasgos menos comunes incluyen disartria, dismetría y rasgos faciales dismórficos (rostro alargado, surco nasolabial largo con nariz prominente, labio inferior grueso y mentón puntiagudo)."},"it":{"name":"Atassia cerebellare non progressiva con disabilità cognitiva","definition":"L'atassia cerebellare non progressiva con disabilità cognitiva è una forma rara dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine); è caratterizzata da atassia cerebellare ad esordio infantile, ipotonia neonatale (in alcuni casi), lieve ritardo dello sviluppo e disabilità cognitiva in età avanzata. Sono meno comuni la disartria, la dismetria e i dismorfismi facciali (viso allungato, naso bulboso, filtro lungo, labbro inferiore grosso, mento prominente)."},"nl":{"name":"Niet-progressieve cerebellaire ataxie met intellectuele achterstand","definition":"Een zeldzaam subtype van autosomaal dominante cerebellaire ataxie type 1 (ADCA type 1), gekenmerkt door aanvang in de zuigelingentijd van cerebellaire ataxie, neonatale hypotonie (bij sommigen), milde ontwikkelingsachterstand, en op latere leeftijd intellectuele achterstand. Minder gangbare kenmerken zijn onder meer dysartrie, dysmetrie en dysmorfe gelaatskenmerken (lang aangezicht, knolvormige neus, lang filtrum, dikke onderlip, en puntige kin)."},"pt":{"name":"Ataxia cerebelosa não-progressiva com perturbação do desenvolvimento intelectual"},"pl":{"name":"Niepostępująca ataksja móżdżkowa z niepełnosprawnością intelektualną"},"cs":{"name":"Neprogresivní cerebelární ataxie s mentální retardací"},"uk":{"name":"Непрогресуюча мозочкова атаксія з інтелектуальною недостатністю","definition":"A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)."},"zh":{"name":"非进行性小脑共济失调伴智力障碍","definition":"非进行性小脑共济失调伴智力缺陷是常染色体显性遗传小脑共济失调1型（ADCA 1型；见本术语）的一种罕见亚型，其特征是在婴儿期发作小脑共济失调、新生儿肌张力低下（在某些情况下）、轻度发育迟缓以及在晚年出现智力残疾。不常见的特征包括构音障碍、辨距困难和面部畸形（长脸、球形鼻、长人中、厚下唇和尖下巴）。"},"tr":{"name":"Zihinsel yetersizlik ile seyreden ilerleyici olmayan serebellar ataksi"}},"xrefs":[{"source":"OMIM","code":"614756","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619352","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013886","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CAMTA1","name":"calmodulin binding transcription activator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22693284[PMID]","hgnc":"18806","ensembl":"ENSG00000171735","omim":"611501","loci":["1p36.31-p36.23"]},{"symbol":"POU4F1","name":"POU class 4 homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33783914[PMID]","hgnc":"9218","ensembl":"ENSG00000152192","omim":"601632","loci":["13q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"22693284[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":"2018-02-19","source":"22693284[PMID]_24145135[PMID]_24738973[PMID]_17470457[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011166","label":"Focal myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002470","label":"Nonprogressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025517","label":"Hypoplastic hippocampus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002003","label":"Large forehead","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011067","label":"Mesiodens","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0400005","label":"Short ear","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002403","label":"Positive Romberg sign","frequency":"Excluded (0%)","criteria":null}]}}