{"orpha":309185,"name":"Tay-Sachs disease, juvenile form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Beta-hexosaminidase subunit alpha deficiency, juvenile form","GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form","GM2 gangliosidosis, Tay-Sachs variant, juvenile form","HEXA disorder, juvenile form","Subacute juvenile Tay-Sachs disease"],"definition":null,"note":"This disease is described under Tay-Sachs disease","url":"https://raremap.alftech.space/d/ORPHA-309185/","orphanet_url":"https://www.orpha.net/en/disease/detail/309185","names":{"fr":{"name":"Maladie de Tay-Sachs, forme juvénile","synonyms":["Déficit en sous-unité bêta-hexosaminidase alpha, forme juvénile","Gangliosidose à GM2, variant Tay-Sachs, forme juvénile","Gangliosidose à GM2, variant déficit en hexosaminidase A, forme juvénile","Maladie juvénile subaiguë de Tay-Sachs"]},"de":{"name":"Tay-Sachs-Krankheit, juvenile Form","synonyms":["Alpha-Untereinheit-Defizienz der Beta-Hexosaminidase, juvenile Form","GM2-Gangliosidose, Tay-Sachs-Variante, juvenile Form","GM2-Gangliosidose, Variante des Hexosaminidase-A-Mangels, juvenile Form","Hexosaminidase A-Mangel, juvenile Form","Subakute juvenile Tay-Sachs-Krankheit"]},"es":{"name":"Enfermedad de Tay-Sachs forma juvenil","synonyms":["Deficiencia de hexosaminidasa A, forma juvenil","Deficiencia de la subunidad alfa de la beta-hexosaminidasa, forma juvenil","Enfermedad de Tay-Sachs juvenil subaguda","Gangliosidosis GM2, variante Tay-Sachs, forma juvenil","Gangliosidosis GM2, variante por deficiencia de hexosaminidasa A, forma juvenil","Trastorno HEXA, forma juvenil"]},"it":{"name":"Malattia di Tay-Sachs, forma giovanile","synonyms":["Deficit di beta-esosaminidasi subunità alfa, forma giovanile","GM2-gangliosidosi, variante da deficit di esosaminidasi A, forma giovanile","GM2-gangliosidosi, variante di Tay-Sachs, forma giovanile","Malattia correlata a HEXA, forma giovanile","Malattia di Tay-Sachs subacuta giovanile"]},"nl":{"name":"Ziekte van Tay-Sachs, juveniele vorm","synonyms":["Deficiëntie van alfa-subeenheid van bèta-hexosaminidase, juveniele vorm","GM2-gangliosidose, Tay-Sachs-variant, juveniele vorm","GM2-gangliosidose, variant met hexosaminidase A-deficiëntie, juveniele vorm","HEXA-stoornis, juveniele vorm","Subacute juveniele ziekte van Tay-Sachs"]},"pt":{"name":"Doença Tay-Sachs, juvenil","synonyms":["Deficiência da subunidade alfa beta-hexosaminidase, juvenil","Doença HEXA, juvenil","Doença Tay-Sachs juvenil sub-aguda","Gangliosidose GM2, variante Tay-Sachs, juvenil","Gangliosidose GM2, variante devido a deficiência de hexosaminidase A, juvenil"]},"pl":{"name":"Choroba Taya i Sachsa, wariant B, postać młodzieńcza","synonyms":["Gangliozydoza GM2, wariant B, postać młodzieńcza","Niedobór heksozoaminidazy A, postać młodzieńcza"]},"cs":{"name":"Tayova-Sachsova nemoc, B varianta, juvenilní forma","synonyms":["GM2 gangliosidóza, B varianta, juvenilní forma","Deficit hexosaminidázy A, juvenilní forma","Tay-Sachsova nemoc, B varianta, juvenilní forma"]},"uk":{"name":"Хвороба Тея-Сакса, ювенільна форма","synonyms":["Дефіцит альфа-субодиниці бета-гексозамінідази, ювенільна форма","GM2 гангліозидоз, варіант дефіциту гексозамінідази А, ювенільна форма","GM2 гангліозидоз, варіант Тея-Сакса, ювенільна форма","HEXA-розлад, ювенільна форма","Підгостра ювенільна хвороба Тея-Сакса"]},"zh":{"name":"B型青少年型泰萨克斯病","synonyms":["青少年型B型GM2神经节苷脂贮积症"]},"tr":{"name":"Tay-Sachs hastalığı, B varyantı, genç formu","synonyms":["Hekzosaminidaz A eksikliği, jüvenil formu","GM2 gangliosidosis, B varyantı, jüvenil 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":"390870454"},{"source":"MONDO","code":"0017725","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925030","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}