{"orpha":309169,"name":"Sandhoff disease, adult form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Beta-hexosaminidase subunit beta deficiency, adult form","GM2 gangliosidosis, Sandhoff variant, adult form","GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form"],"definition":null,"note":"This disease is described under Sandhoff disease","url":"https://raremap.alftech.space/d/ORPHA-309169/","orphanet_url":"https://www.orpha.net/en/disease/detail/309169","names":{"fr":{"name":"Maladie de Sandhoff adulte","synonyms":["Déficit en sous-unité bêta-hexosaminidase bêta, forme adulte","Gangliosidose à GM2, variant Sandhoff, forme adulte","Gangliosidose à GM2, variant déficit en hexosaminidase A et B, forme adulte"]},"de":{"name":"Sandhoff-Krankheit, adulte Form","synonyms":["Beta-Untereinheit-Defizienz der Beta-Hexosaminidase, adulte Form","GM2-Gangliosidose, Hexosaminidase-A/B-Mangel Variante, adulte Form","GM2-Gangliosidose, Sandhoff-Variante, adulte Form"]},"es":{"name":"Enfermedad de Sandhoff, forma adulta","synonyms":["Deficiencia de la subunidad beta de la beta-hexosaminidasa, forma adulta","Gangliosidosis GM2, variante de Sandhoff, forma adulta","Gangliosidosis GM2, variante deficiencia de hexosaminidasa A y B, forma adulta"]},"it":{"name":"Malattia di Sandhoff, forma dell'adulto","synonyms":["Deficit della subunità beta della esosaminidasi beta, forma dell'adulto","Gangliosidosi GM2, variante deficit di esosaminidasi A e B, forma dell'adulto","Gangliosidosi GM2, variante di Sandhoff, forma dell'adulto"]},"nl":{"name":"Ziekte van Sandhoff, volwassen vorm","synonyms":["Deficiëntie van bèta-hexosaminidase subeenheid bèta, volwassen vorm","GM2-gangliosidose, Sandhoff-variant, volwassen vorm","GM2-gangliosidose, variant met deficiëntie van hexosaminidase A en B, volwassen vorm"]},"pt":{"name":"Doença Sandhoff, forma adulta","synonyms":["Deficiência da subunidade beta da beta-hexosaminidase, forma adulta","Gangliosidose GM2, variante Sandhoff, forma adulta","Gangliosidose GM2, variante com deficiência de hexosaminidase A e B, forma adulta"]},"pl":{"name":"Choroba Sandhoffa, postać dorosłych","synonyms":["Gangliozydoza dorosłych GM2 wariant 0"]},"cs":{"name":"Sandhoffova nemoc, adultní forma","synonyms":["Adultní GM2 gangliosidóza, varianta 0","Deficit hexosaminidázy A a B, adultní forma"]},"uk":{"name":"Хвороба Сандхоффа, доросла форма","synonyms":["Дефіцит бета-субодиниці бета-гексозамінідази, доросла форма","GM2 гангліозидоз, варіант дефіциту гексозамінідази А і В, доросла форма","GM2 гангліозидоз, варіант Сандхоффа, доросла форма"]},"zh":{"name":"成人型桑德霍夫病","synonyms":["成人型己糖胺酶A和B缺乏"]},"tr":{"name":"Sandhoff hastalığı, yetişkin formu","synonyms":["Erişkin GM2 gangliosidoz 0 varyantı","Hekzosaminidaz A ve B eksikliği, erişkin formu"]}},"xrefs":[{"source":"OMIM","code":"268800","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":"647665394"},{"source":"MONDO","code":"0017723","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751489","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":796,"name":"Sandhoff disease","classifications":[150,156,181,189,233]}],"children":[],"genes":[{"symbol":"HEXB","name":"hexosaminidase subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20798201[PMID]","hgnc":"4879","ensembl":"ENSG00000049860","omim":"606873","loci":["5q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-10-07","source":"31995250[PMID]_34210542[PMID]_34856081[PMID]_30065954[PMID]_35420740[PMID]","terms":[{"hpo":"HP:0033978","label":"Reduced beta-hexosaminidase activity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025268","label":"Stuttering","frequency":"Occasional (29-5%)","criteria":null}]}}