{"orpha":309162,"name":"Sandhoff disease, juvenile form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Beta-hexosaminidase subunit beta deficiency, juvenile form","GM2 gangliosidosis, Sandhoff variant, juvenile form","GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form"],"definition":null,"note":"This disease is described under Sandhoff disease","url":"https://raremap.alftech.space/d/ORPHA-309162/","orphanet_url":"https://www.orpha.net/en/disease/detail/309162","names":{"fr":{"name":"Maladie de Sandhoff juvénile","synonyms":["Déficit en sous-unité bêta-hexosaminidase bêta, forme juvénile","Gangliosidose à GM2, variant Sandhoff, forme juvénile","Gangliosidose à GM2, variant déficit en hexosaminidase A et B, forme juvénile"]},"de":{"name":"Sandhoff-Krankheit, juvenile Form","synonyms":["Beta-Untereinheit-Defizienz der Beta-Hexosaminidase, juvenile Form","GM2-Gangliosidose, Hexosaminidase-A/B-Mangel Variante, juvenile Form","GM2-Gangliosidose, Sandhoff-Variante, juvenile Form"]},"es":{"name":"Enfermedad de Sandhoff, forma juvenil","synonyms":["Deficiencia de la subunidad beta de la beta-hexosaminidasa, forma juvenil","Gangliosidosis GM2, variante de Sandhoff, forma juvenil","Gangliosidosis GM2, variante deficiencia de hexosaminidasa A y B, forma juvenil"]},"it":{"name":"Malattia di Sandhoff, forma giovanile","synonyms":["Deficit della subunità beta della esosaminidasi beta, forma giovanile","Gangliosidosi GM2, variante deficit di esosaminidasi A e B, forma giovanile","Gangliosidosi GM2, variante di Sandhoff, forma giovanile"]},"nl":{"name":"Ziekte van Sandhoff, juveniele vorm","synonyms":["Deficiëntie van bèta-hexosaminidase subeenheid bèta, juveniele vorm","GM2-gangliosidose, Sandhoff-variant, juveniele vorm","GM2-gangliosidose, variant met deficiëntie van hexosaminidase A en B, juveniele vorm"]},"pt":{"name":"Doença Sandhoff, forma juvenil","synonyms":["Deficiência da subunidade beta da beta-hexosaminidase, forma juvenil","Gangliosidose GM2, variante Sandhoff, forma juvenil","Gangliosidose GM2, variante com deficiência de hexosaminidase A e B, forma juvenil"]},"pl":{"name":"Choroba Sandhoffa, postać młodzieńcza","synonyms":["Gangliozydoza młodzieńcza GM2 wariant 0","Niedobór heksozoaminidazy A i B, postać młodzieńcza"]},"cs":{"name":"Sandhoffova nemoc, juvenilní forma","synonyms":["Deficit hexosaminidázy A a B, juvenilní forma","Juvenilní GM2 gangliosidóza, varianta 0"]},"uk":{"name":"Хвороба Сандхоффа, ювенільна форма","synonyms":["Дефіцит бета-субодиниці бета-гексозамінідази, ювенільна форма","GM2 гангліозидоз, варіант дефіциту гексозамінідази А і В, ювенільна форма","GM2 гангліозидоз, варіант Сандхоффа, ювенільна форма"]},"zh":{"name":"青少年型桑霍夫病","synonyms":["青少年型己糖胺酶A和B缺乏"]},"tr":{"name":"Sandhoff hastalığı, genç formu","synonyms":["Jüvenil GM2 gangliosidoz 0 varyantı","Hekzosaminidaz A ve B eksikliği, jüvenil 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":"847224547"},{"source":"MONDO","code":"0017722","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751491","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":["Adolescent","Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-10-07","source":"17015493[PMID]_15159655[PMID]_28895707[PMID]_34217565[PMID]_","terms":[{"hpo":"HP:0033978","label":"Reduced beta-hexosaminidase activity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031006","label":"Acroparesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003121","label":"Limb joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very rare (<4-1%)","criteria":null}]}}