{"orpha":263410,"name":"Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263410/","orphanet_url":"https://www.orpha.net/en/disease/detail/263410","names":{"fr":{"name":"Syndrome de spasmes infantiles-retard psychomoteur-atrophie cérébrale progressive-anomalie des ganglions de la base","definition":"Anomalie rare du métabolisme et du transport de la thiamine, d'origine génétique, caractérisée par des spasmes infantiles évoluant vers des crises convulsives partielles ou généralisées symptomatiques, un retard de développement global sévère, une atrophie progressive du cerveau et des lésions bilatérales des ganglions de la base et du thalamus."},"de":{"name":"Infantile Spasmen-psychomotorische Retardierung-progressive Hirnatrophie-Basalganglienerkrankung-Syndrom"},"es":{"name":"Síndrome de espasmos infantiles-retraso psicomotor-atrofia cerebral progresiva-enfermedad de los ganglios basales","definition":"Es un trastorno, genético y poco frecuente, del metabolismo y transporte de tiamina. Está caracterizado por espasmos infantiles que progresan a crisis sintomáticas parciales o generalizadas, retraso grave del desarrollo global, atrofia cerebral progresiva y lesiones talámicas bilaterales y de los ganglios basales."},"it":{"name":"Sindrome da spasmi infantili, ritardo psicomotorio, atrofia cerebrale progressiva e malattia dei gangli basali","definition":"La sindrome che associa gli spasmi infantili, il ritardo psicomotorio, l'atrofia cerebrale progressiva e la malattia dei gangli basali è un difetto genetico raro del metabolismo e del trasporto della tiamina, caratterizzato da spasmi infantili, che progrediscono nelle crisi epilettiche generalizzate o parziali sintomatiche, grave ritardo dello sviluppo globale, atrofia cerebrale progressiva e lesioni bilaterali del talamo e dei gangli basali."},"nl":{"name":"Infantiele spasmen - psychomotorische retardatie - progressieve hersenatrofie - basale gangliaziekte-syndroom","definition":"Infantiele spasmen - psychomotorische retardatie - progressieve hersenatrofie - basale gangliaziekte-syndroom is een zeldzame, genetische stoornis van het thiaminemetabolisme en -transport, en wordt gekarakteriseerd door infantiele spasmen die evolueren tot symptomatische gegeneraliseerde of partiële insulten, ernstige algehele ontwikkelingsachterstand, progressieve hersenatrofie, en bilaterale letsels aan thalamus en basale ganglia."},"pt":{"name":"Síndrome de espasmos infantis-atraso psicomotor-atrofia cerebral progressiva-doença dos gânglios basais"},"pl":{"name":"Zespół drgawek niemowlęcych, opóźnienia psychoruchowego, postępującego zaniku mózgu oraz choroby zwojów podstawnych","definition":"*Zespół drgawek niemowlęcych, opóźnienia psychoruchowego, postępującego zaniku mózgu oraz choroby zwojów podstawnych jest rzadkim, genetycznie uwarunkowanym zaburzeniem metabolizmu i transportu tiaminy przez błony komórkowe. Charakteryzuje się skurczami niemowlęcymi prowadzącymi do objawowych napadów drgawkowych uogólnionych lub częściowych, ciężkim całościowym opóźnieniem rozwoju, postępującym zanikiem mózgu i obustronnym uszkodzeniem zwojów wzgórza i podstawy mózgu."},"cs":{"name":"Syndrom zahrnující infantilní spazmy, psychomotorickou retardaci, progresivní atrofii mozku a onemocnění bazálních ganglií"},"uk":{"name":"Синдром інфантильних спазмів-психомоторної затримки-прогресуючої атрофії головного мозку-хвороби базальних гангліїв","definition":"A rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions."},"zh":{"name":"婴儿痉挛-精神运动性迟滞-进行性脑萎缩-基底节病综合征","definition":"婴儿痉挛-精神运动发育迟缓-进行性脑萎缩-基底节疾病综合征是一种罕见的与硫胺素代谢和转运相关的遗传性疾病，其特征是婴儿痉挛进展为有症状的全身性或部分性癫痫，严重的全面发育迟缓，进行性脑萎缩，以及双侧丘脑和基底节损害。"},"tr":{"name":"İnfantil spazmlar-psikomotor gerilik-ilerleyici beyin atrofisi-bazal gangliya hastalığı sendromu"}},"xrefs":[{"source":"OMIM","code":"607483","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E51.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B5A.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"16981","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190692","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":298644,"name":"Disorder of thiamine metabolism and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC19A3","name":"solute carrier family 19 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21176162[PMID]","hgnc":"16266","ensembl":"ENSG00000135917","omim":"606152","loci":["2q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"21176162[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":"2019-10-03","source":"30054086[PMID]_23742248[PMID]","terms":[{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012697","label":"Small basal ganglia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012747","label":"Abnormal brainstem MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007105","label":"Infantile encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null}]}}