{"orpha":79257,"name":"GM1 gangliosidosis type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Adult-onset GM1 gangliosidosis"],"definition":"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79257/","orphanet_url":"https://www.orpha.net/en/disease/detail/79257","names":{"fr":{"name":"Gangliosidose à GM1 type 3","synonyms":["Gangliosidose à GM1 de l'adulte"],"definition":"La gangliosidose à GM1 type 3 est une forme chronique de gravité moyenne de la ganliosidose GM1 caractérisée par une apparition pendant l'enfance ou l'adolescence et par une dysfonction cérébelleuse."},"de":{"name":"GM1-Gangliosidose Typ 3","synonyms":["GM1-Gangliosidose, mit Beginn im Erwachsenenalter"],"definition":"GM1-Gangliosidose Typ 3 ist eine milde, chronische Form der GM1-Gangliosidose im Erwachsenenalter (siehe diesen Begriff), die im Allgemeinen in der Kindheit oder Jugend auftritt und durch eine zerebellare Funktionsstörung gekennzeichnet ist."},"es":{"name":"Gangliosidosis GM1 tipo 3","synonyms":["Gangliosidosis GM1 del adulto"],"definition":"La gangliosidos GM1 tipo 3 es una forma adulta, crónica y leve de gangliosidosis GM1 (consulte este término), caracterizada por su aparición generalmente durante la infancia o adolescencia y por una disfunción cerebelosa."},"it":{"name":"Gangliosidosi GM1, tipo 3","synonyms":["Gangliosidosi GM1 dell'età adulta"],"definition":"La gangliosidosi GM1 tipo 3 è una forma adulta cronica lieve della gangliosidosi GM1 (si veda questo termine), caratterizzata da un esordio di solito nell'infanzia o nell'adolescenza e da una disfunzione cerebellare."},"nl":{"name":"GM1-gangliosidose type 3","synonyms":["GM1-gangliosidose met aanvang op volwassen leeftijd"],"definition":"GM1-gangliosidose type 3 is een milde, chronische, volwassen vorm van GM1-gangliosidose (zie deze term) en wordt gekenmerkt door manifestaties die over het algemeen optreden tijdens de kindertijd of adolescentie en door cerebellaire disfunctie."},"pt":{"name":"Gangliosidose GM1 tipo 3","definition":"A gangliosidose tipo 3 é uma forma do adulto, leve e crónica de gangliosidose GM1 (ver este termo), caracterizada por um início geralmente na infância ou adolescência e por disfunção cerebelar."},"pl":{"name":"GM1 gangliozydoza typu 3","synonyms":["GM1 gangliozydoza dorosłych"]},"cs":{"name":"GM1 gangliosidóza, typ 3","synonyms":["Adultní GM1 gangliosidóza"]},"uk":{"name":"GM1 гангліозидоз, тип 3","synonyms":["GM1 гангліозидоз , що починається у дорослих"],"definition":"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction."},"zh":{"name":"GM1神经节苷脂贮积病3型","synonyms":["成人型GM1神经节苷脂沉积病"]},"tr":{"name":"GM1 gangliosidoz tip 3","synonyms":["Erişkin başlangıçlı GM1 gangliosidoz"]}},"xrefs":[{"source":"OMIM","code":"230650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1331496842"},{"source":"MONDO","code":"0009262","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268273","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2431","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":354,"name":"GM1 gangliosidosis","classifications":[150,156,181,199,233]}],"children":[],"genes":[{"symbol":"GLB1","name":"galactosidase beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24156116[PMID]","hgnc":"4298","ensembl":"ENSG00000170266","omim":"611458","loci":["3p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}