{"orpha":309178,"name":"Tay-Sachs disease, infantile form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Acute infantile Tay-Sachs disease","Beta-hexosaminidase subunit alpha deficiency, infantile form","GM2 gangliosidosis, Tay-Sachs variant, infantile form","GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form","HEXA disorder, infantile form"],"definition":null,"note":"This disease is described under Tay-Sachs disease","url":"https://raremap.alftech.space/d/ORPHA-309178/","orphanet_url":"https://www.orpha.net/en/disease/detail/309178","names":{"fr":{"name":"Maladie de Tay-Sachs, forme infantile","synonyms":["Déficit en sous-unité bêta-hexosaminidase alpha, forme infantile","Gangliosidose à GM2, variant Tay-Sachs, forme infantile","Gangliosidose à GM2, variant déficit en hexosaminidase A, forme infantile","Maladie infantile aiguë de Tay-Sachs"]},"de":{"name":"Tay-Sachs-Krankheit, infantile Form","synonyms":["Akute infantile Tay-Sachs-Krankheit","Alpha-Untereinheit-Defizienz der Beta-Hexosaminidase, infantile Form","GM2-Gangliosidose, Tay-Sachs-Variante, infantile Form","GM2-Gangliosidose, Variante des Hexosaminidase-A-Mangels, infantile Form","Hexosaminidase A-Mangel, infantile Form"]},"es":{"name":"Enfermedad de Tay-Sachs forma infantil","synonyms":["Gangliosidosis GM2, variante deficiencia de hexosaminidasa A, forma infantil","Trastorno HEXA, forma infantil","Deficiencia de la subunidad alfa de la beta-hexosaminidasa, forma infantil","Enfermedad de Tay-Sachs infantil aguda","Gangliosidosis GM2, variante Tay-Sachs, forma infantil"]},"it":{"name":"Malattia di Tay-Sachs, forma infantile","synonyms":["Deficit di beta-esosaminidasi subunità alfa","GM2-gangliosidosi, variante da deficit di esosaminidasi A, forma infantile","GM2-gangliosidosi, variante di Tay-Sachs, forma infantile","Malattia correlata a HEXA, forma infantile","Malattia di Tay-Sachs acuta infantile"]},"nl":{"name":"Ziekte van Tay-Sachs, infantiele vorm","synonyms":["Acute infantiele ziekte van Tay-Sachs","Deficiëntie van alfa-subeenheid van bèta-hexosaminidase, infantiele vorm","GM2-gangliosidose, Tay-Sachs-variant, infantiele vorm","GM2-gangliosidose, variant met hexosaminidase A-deficiëntie, infantiele vorm","HEXA-stoornis, infantiele vorm"]},"pt":{"name":"Doença Tay-Sachs, infantil","synonyms":["Deficiência da subunidade alfa beta-hexosaminidase, infantil","Doença HEXA, infantil","Doença Tay-Sachs infantil aguda","Gangliosidose GM2, variante Tay-Sachs, infantil","Gangliosidose GM2, variante devido a deficiência de hexosaminidase A, infantil"]},"pl":{"name":"Choroba Taya i Sachsa, wariant B, postać niemowlęca","synonyms":["Gangliozydoza GM2, wariant B, postać niemowlęca","Niedobór heksozoaminidazy A, postać niemowlęca"]},"cs":{"name":"Tayova-Sachsova nemoc, B varianta, infantilní forma","synonyms":["GM2 gangliosidóza, B varianta, infantilní forma","Deficit hexosaminidázy A, infantilní forma","Tay-Sachsova nemoc, B varianta, infantilní forma"]},"uk":{"name":"Хвороба Тея-Сакса, інфантильна форма","synonyms":["Гостра дитяча хвороба Тея-Сакса","Дефіцит альфа-субодиниці бета-гексозамінідази, дитяча форма","GM2 гангліозидоз, варіант дефіциту гексозамінідази А, інфантильна форма","GM2 гангліозидоз, варіант Тея-Сакса, інфантильна форма","HEXA-розлад, інфантильна форма"]},"zh":{"name":"B型婴儿型泰萨克斯病","synonyms":["婴儿型B型GM2神经节苷脂贮积症"]},"tr":{"name":"Tay-Sachs hastalığı, B varyantı, infantil formu","synonyms":["Hekzosaminidaz A eksikliği, infantil form","GM2 gangliosidoz, B varyantı, infantil formu"]}},"xrefs":[{"source":"OMIM","code":"272800","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"519504561"},{"source":"MONDO","code":"0017724","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925031","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":845,"name":"Tay-Sachs disease","classifications":[150,156,181,189,233]}],"children":[],"genes":[{"symbol":"HEXA","name":"hexosaminidase subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4878","ensembl":"ENSG00000213614","omim":"606869","loci":["15q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}