{"orpha":79256,"name":"GM1 gangliosidosis type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Juvenile GM1 gangliosidosis","Late-infantile GM1 gangliosidosis"],"definition":"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79256/","orphanet_url":"https://www.orpha.net/en/disease/detail/79256","names":{"fr":{"name":"Gangliosidose à GM1 type 2","synonyms":["Gangliosidose à GM1 infantile tardive","Gangliosidose à GM1 juvénile"],"definition":"La gangliosidose à GM1 type 2 est une forme de gangliosidose GM1 apparaissant dans la petite enfance ou dans l'enfance et présentant des manifestations cliniques variables. Elle se caractérise par un développement initiallement normal et une régression psychomotrice entre l'âge de 7 mois et de trois ans."},"de":{"name":"GM1-Gangliosidose Typ 2","synonyms":["GM1-Gangliosidose, juvenile","GM1-Gangliosidose, spät-infantile"],"definition":"Die GM1-Gangliosidose Typ 2 ist eine klinisch unterschiedlich ausgeprägte, bei Säuglingen oder im Kindesalter beginnende Form der GM1-Gangliosidose (s. dort). Kennzeichnend sind eine normale frühe Entwicklung und die im Alter zwischen 7 Monaten und 3Jahren beginnende psychomotorische Regression."},"es":{"name":"Gangliosidosis GM1 tipo 2","synonyms":["Gangliosidosis GM1 infantil tardía","Gangliosidosis GM1 juvenil"],"definition":"La gangliosidosis GM1 tipo 2 es una forma clínicamente variable de la gangliosidosis GM1 (consulte este término) de aparición en la infancia o la niñez, caracterizado por un desarrollo inicial normal y una regresión psicomotora entre los siete meses y los tres años de edad."},"it":{"name":"Gangliosidosi GM1, tipo 2","synonyms":["Gangliosidosi GM1 giovanile","Gangliosidosi GM1 tardo-infantile"],"definition":"La gangliosidosi GM1 tipo 2 è una forma clinicamente variabile ad esordio neonatale o infantile della gangliosidosi GM1 (si veda questo termine), caratterizzata da uno sviluppo iniziale normale e da una regressione psicomotoria tra i 7 mesi e i 3 anni di vita."},"nl":{"name":"GM1-gangliosidose type 2","synonyms":["Juveniele GM1-gangliosidose"],"definition":"GM1-gangliosidose type 2 is een klinisch variabele, in baby-of kindertijd beginnende vorm van GM1-gangliosidose (zie deze term) gekenmerkt door een normale vroege ontwikkeling en psychomotorische regressie tussen zeven maanden en drie jaar."},"pt":{"name":"Gangliosidose GM1 tipo 2","definition":"A gangliosidose GM1 tipo 2 é uma forma de gangliosidose GM1 (ver este termo) clinicamente variável de início na infância, caracterizada por desenvolvimento inicial normal e regressão psicomotora entre sete meses e três anos de idade."},"pl":{"name":"GM1 gangliozydoza typu 2","synonyms":["Młodzieńcza GM1 gangliozydoza","Późno dziecięca GM1 gangliozydoza"]},"cs":{"name":"GM1 gangliosidóza, typ 2","synonyms":["Juvenilní GM1 gangliosidóza","Pozdně infantilní GM1 gangliosidóza"]},"uk":{"name":"GM1 гангліозидоз, тип 2","synonyms":["Ювенільний GM1 гангліозидоз","Пізній інфантильний GM1 гангліозидоз"],"definition":"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age."},"zh":{"name":"GM1神经节苷脂贮积病2型","synonyms":["幼儿型GM1神经节苷脂病"]},"tr":{"name":"GM1 gangliosidoz tip 2","synonyms":["jüvenil GM1 gangliosidoz","Geç infantil GM1 gangliosidoz"]}},"xrefs":[{"source":"OMIM","code":"230600","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":"1132250614"},{"source":"MONDO","code":"0009261","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268272","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10126","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]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]}],"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":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"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}