{"orpha":1187,"name":"Lethal ataxia with deafness and optic atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Arts syndrome","Lethal ataxia with hearing loss and optic atrophy"],"definition":"Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1187/","orphanet_url":"https://www.orpha.net/en/disease/detail/1187","names":{"fr":{"name":"Syndrome d'ataxie-surdité-atrophie optique-létalité","synonyms":["Syndrome d'Arts"],"definition":"Syndrome d'ataxie-surdité-atrophie optique-létalité (également appelé syndrome d'Arts) est caractérisé par un déficit intellectuel, une hypotonie de début précoce, une ataxie, un retard du développement moteur, une perte de l'audition et de la vision (atrophie optique)."},"de":{"name":"Letale Ataxie mit Schwerhörigkeit und Optikusatrophie","synonyms":["Arts-Syndrom"]},"es":{"name":"Ataxia letal con sordera y atrofia óptica","synonyms":["Ataxia letal con hipoacusia y atrofia óptica"],"definition":"Este síndrome (también conocido como síndrome de Arts) se caracteriza por déficit intelectual, hipotonia de aparición temprana, ataxia, retraso del desarrollo motor, deficiencia auditiva y pérdida de visión como resultado de atrofia óptica."},"it":{"name":"Atassia - atrofia ottica - sordità - letalità","synonyms":["Sindrome di Arts"]},"nl":{"name":"Letale ataxie met doofheid en opticusatrofie","synonyms":["Letale ataxie met gehoorverlies en opticusatrofie","Syndroom van Arts"],"definition":"Letale ataxie met doofheid en opticusatrofie (ook gekend als syndroom van Arts) wordt gekenmerkt door intellectuele achterstand, vroeg optredende hypotonie, ataxie, motorische ontwikkelingsachterstand, slechthorendheid, en verlies van gezichtsvermogen als gevolg van opticusatrofie."},"pt":{"name":"Ataxia letal com surdez e atrofia óptica","synonyms":["Ataxia letal com perda auditiva e atrofia óptica","Síndrome Arts"],"definition":"Esta síndrome (também conhecido como síndrome de Arts) é caracterizada por atraso mental, apresentação de hipotonia precoce, ataxia, desenvolvimento motor atrasado, surdez e perda de visão por atrofia óptica."},"pl":{"name":"Śmiertelna ataksja z głuchotą i atrofią nerwu wzrokowego","synonyms":["Zespół Artsa"]},"cs":{"name":"Letální ataxie s hluchotou a atrofií optiku","synonyms":["Artsův syndrom"]},"uk":{"name":"Летальна атаксія з глухотою та атрофією зорового нерва","synonyms":["Синдром Артса","Летальна атаксія з втратою слуху та атрофією зорового нерва"],"definition":"Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy."},"zh":{"name":"致死性共济失调伴耳聋和视神经萎缩","synonyms":["致死性共济失调伴耳聋和视神经萎缩"]},"tr":{"name":"Sağırlık ve optik atrofi ile letal ataksi","synonyms":["Sanat sendromu","İşitme kaybı ve optik atrofi ile seyreden letal ataksi"]}},"xrefs":[{"source":"OMIM","code":"301835","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1859847483"},{"source":"MONDO","code":"0010533","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535388","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796028","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8756","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":247765,"name":"X-linked cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PRPS1","name":"phosphoribosyl pyrophosphate synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301738[PMID]","hgnc":"9462","ensembl":"ENSG00000147224","omim":"311850","loci":["Xq22.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"27256512[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27256512[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-05-27","source":"8498830[PMID]_20301738[PMID]","terms":[{"hpo":"HP:0030272","label":"Abnormal erythrocyte enzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007377","label":"Abnormality of somatosensory evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007258","label":"Severe demyelination of the white matter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012389","label":"Appendicular hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011185","label":"EEG with focal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003537","label":"Hypouricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011476","label":"Profound sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008311","label":"Spinal cord posterior columns myelin loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Frequent (79-30%)","criteria":null}]}}