{"orpha":309246,"name":"GM2 gangliosidosis, AB variant","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hexosaminidase activator deficiency"],"definition":"GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-309246/","orphanet_url":"https://www.orpha.net/en/disease/detail/309246","names":{"fr":{"name":"Gangliosidose à GM2 variant AB","synonyms":["Déficit en activateur de l'hexosaminidase"],"definition":"Maladie génétique extrêmement rare et grave caractérisée par un déclin neurologique progressif dû à un déficit en activateur des gangliosides."},"de":{"name":"GM2-Gangliosidose, AB-Variante","synonyms":["Hexosaminidase-Aktivator-Mangel"]},"es":{"name":"Gangliosidosis GM2, variante AB","synonyms":["Deficiencia del activador de hexosaminidasa"],"definition":"Es un trastorno genético grave y extremadamente poco frecuente caracterizado por un deterioro neurológico progresivo debido a un déficit del activador de gangliósidos."},"it":{"name":"GM2-gangliosidosi, variante AB","synonyms":["Deficit dell'attivatore di esosaminidasi"],"definition":"La GM2-gangliosidosi, variante AB è una malattia genetica grave molto rara, caratterizzata da deterioramento neurologico progressivo secondario al deficit dell'attivatore del ganglioside."},"nl":{"name":"GM2-gangliosidose, AB-variant","synonyms":["Hexosaminidaseactivatordeficiëntie"],"definition":"GM2-gangliosidose, AB variant is een uiterst zeldzame, ernstige, genetische stoornis die gekarakteriseerd wordt door progressieve neurologische aftakeling als gevolg van deficiëntie van ganglioside activator."},"pt":{"name":"Gangliosidose-GM2, variante AB"},"pl":{"name":"Gangliozydoza GM2, wariant AB","synonyms":["Niedobór aktywatora heksozoaminidazy"]},"cs":{"name":"GM2 gangliosidóza, varianta AB","synonyms":["Deficit aktivátoru hexosaminidázy"]},"uk":{"name":"Гангліозидоз GM2, варіант AB","synonyms":["Дефіцит активатора гексозамінідази"],"definition":"GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."},"zh":{"name":"AB型GM2神经节苷脂贮积症","synonyms":["己糖胺酶激活剂缺乏"],"definition":"GM2神经节苷脂贮积症AB型是一种极为罕见的严重遗传性疾病，其特征是由于神经节苷脂激活剂缺乏导致神经功能进行性下降。"},"tr":{"name":"GM2 gangliosidoz, AB varyantı","synonyms":["Hekzosaminidaz aktivatör eksikliği"]}},"xrefs":[{"source":"OMIM","code":"272750","qualifier":"E","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":"649693659"},{"source":"MONDO","code":"0010099","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268275","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309152,"name":"GM2 gangliosidosis","classifications":[150,156,181,233]}],"children":[],"genes":[{"symbol":"GM2A","name":"ganglioside GM2 activator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8900233[PMID]","hgnc":"4367","ensembl":"ENSG00000196743","omim":"613109","loci":["5q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"26082327[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26082327[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-19","source":"26203402[PMID]_9932959[PMID]_6801612[PMID]_174379[PMID]","terms":[{"hpo":"HP:0100852","label":"Abnormal fear/anxiety-related behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002267","label":"Exaggerated startle response","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010780","label":"Hyperacusis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002180","label":"Neurodegeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002478","label":"Progressive spastic quadriplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short 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(79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002200","label":"Pseudobulbar signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030081","label":"Punctate periventricular T2 hyperintense foci","frequency":"Occasional (29-5%)","criteria":null}]}}