{"orpha":309192,"name":"Tay-Sachs disease, adult form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Beta-hexosaminidase subunit alpha deficiency, adult form","GM2 gangliosidosis, Tay-Sachs variant, adult form","GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form","HEXA disorder, adult form","Late-onset Tay-Sachs disease"],"definition":null,"note":"This disease is described under Tay-Sachs disease","url":"https://raremap.alftech.space/d/ORPHA-309192/","orphanet_url":"https://www.orpha.net/en/disease/detail/309192","names":{"fr":{"name":"Maladie de Tay-Sachs, forme adulte","synonyms":["Déficit en sous-unité bêta-hexosaminidase alpha, forme adulte","Gangliosidose à GM2, variant Tay-Sachs, forme adulte","Gangliosidose à GM2, variant déficit en hexosaminidase A, forme adulte","Maladie de Tay-Sachs à apparition tardive"]},"de":{"name":"Tay-Sachs-Krankheit, adulte Form","synonyms":["Alpha-Untereinheit-Defizienz der Beta-Hexosaminidase, adulte Form","GM2-Gangliosidose, Tay-Sachs-Variante, adulte Form","GM2-Gangliosidose, Variante des Hexosaminidase-A-Mangels, adulte Form","Hexosaminidase A-Mangel, adulte Form","Tay-Sachs-Krankheit, spät einsetzende"]},"es":{"name":"Enfermedad de Tay-Sachs forma adulta","synonyms":["Gangliosidosis GM2, variante Tay-Sachs, forma adulta","Gangliosidosis GM2, variante deficiencia de hexosaminidasa A, forma adulta","Trastorno HEXA, forma adulta","Deficiencia de la subunidad alfa de la beta-hexosaminidasa, forma adulta","Enfermedad de Tay-Sachs de inicio tardío"]},"it":{"name":"Malattia di Tay-Sachs, forma dell'adulto","synonyms":["Deficit di beta-esosaminidasi subunità alfa, forma dell'adulto","GM2-gangliosidosi, variante da deficit di esosaminidasi A, forma dell'adulto","GM2-gangliosidosi, variante di Tay-Sachs, forma dell'adulto","Malattia correlata a HEXA, forma dell'adulto","Malattia di Tay-Sachs ad esordio tardivo"]},"nl":{"name":"Ziekte van Tay-Sachs, volwassen vorm","synonyms":["Deficiëntie van alfa-subeenheid van bèta-hexosaminidase, volwassen vorm","GM2-gangliosidose, Tay-Sachs-variant, volwassen vorm","GM2-gangliosidose, variant met hexosaminidase A-deficiëntie, volwassen vorm","HEXA-stoornis, volwassen vorm","Laat-optredende ziekte van Tay-Sachs"]},"pt":{"name":"Doença Tay-Sachs, no adulto","synonyms":["Deficiência da subunidade alfa beta-hexosaminidase, no adulto","Doença HEXA, no adulto","Doença Tay-Sachs de início tardio","Gangliosidose GM2, variante Tay-Sachs, no adulto","Gangliosidose GM2, variante devido a deficiência de hexosaminidade A, no adulto"]},"pl":{"name":"Choroba Taya i Sachsa, wariant B, postać dorosła","synonyms":["Gangliozydoza GM2, wariant B, postać dorosła","Niedobór heksozoaminidazy A, postać dorosła"]},"cs":{"name":"Tayova-Sachsova nemoc, B varianta, adultní forma","synonyms":["GM2 gangliosidóza, B varianta, adultní forma","Deficit hexosaminidázy A, adultní forma","Tay-Sachsova nemoc, B varianta, adultní forma"]},"uk":{"name":"Хвороба Тея-Сакса, доросла форма","synonyms":["Дефіцит альфа-субодиниці бета-гексозамінідази, доросла форма","GM2 гангліозидоз, варіант дефіциту гексозамінідази А, доросла форма","GM2 гангліозидоз, варіант Тея-Сакса, доросла форма","HEXA-розлад, доросла форма","Хвороба Тея-Сакса з пізнім початком"]},"zh":{"name":"B型成人型泰萨克斯病","synonyms":["成人型B型GM2神经节苷脂贮积症"]},"tr":{"name":"Tay-Sachs hastalığı, B varyantı, yetişkin formu","synonyms":["Hekzosaminidaz A eksikliği, erişkin formu","GM2 gangliosidoz, B varyantı, erişkin 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":"1248043855"},{"source":"MONDO","code":"0017726","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925032","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}