{"orpha":796,"name":"Sandhoff disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A and hexosaminidase B deficiency as a consequence of biallelic pathogenic variants in the <i>HEXB</i> gene.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-796/","orphanet_url":"https://www.orpha.net/en/disease/detail/796","names":{"fr":{"name":"Maladie de Sandhoff","synonyms":["Déficit en sous-unité bêta-hexosaminidase bêta"],"definition":"Maladie lysosomale autosomique récessive rare caractérisée par une accumulation de gangliosides GM2 dans le système nerveux due à un déficit en hexosaminidases A et B en raison de mutations pathogènes bi-alléliques du gène <i>HEXB</i>."},"de":{"name":"Sandhoff-Krankheit","definition":"Eine seltene lysosomale Speicherkrankheit, die durch eine Anhäufung von GM2-Gangliosiden im Nervensystem gekennzeichnet ist, die auf einen Mangel an Hexosaminidase A und Hexosaminidase B als Folge biallelischer pathogener Varianten im <i>HEXB</i>-Gen zurückzuführen ist."},"es":{"name":"Enfermedad de Sandhoff","definition":"Es una enfermedad lisosomal poco frecuente, autosómica recesiva, caracterizada por el acúmulo de gangliósidos GM2 en el sistema nervioso debido a la deficiencia de hexosaminidasa A y hexosaminidasa B como consecuencia de variantes patogénicas bialélicas del gen <i>HEXB</i>."},"it":{"name":"Malattia di Sandhoff"},"nl":{"name":"Ziekte van Sandhoff","definition":"Een zeldzame autosomaal recessieve lysosomale aandoening, gekenmerkt door accumulatie van GM2-gangliosiden in het zenuwstelsel door deficiëntie van hexosaminidase A en hexosaminidase B ten gevolge van biallelische pathogene varianten in het gen <i>HEXB</i>."},"pt":{"name":"Doença Sandhoff","definition":"Doença lisossomal autossómica recessiva rara caracterizada pelo armazenamento de gangliosídeos GM2 no sistema nervoso devido à deficiência de hexosaminidase A e hexosaminidase B como consequência de variantes patogénicas bialélicas no gene HEXB."},"pl":{"name":"Choroba Sandhoffa","synonyms":["Gangliozydoza GM2 typ 0","Niedobór heksozoaminidazy A i B"],"definition":"Rzadka choroba lizosomalna, dziedziczona w sposób autosomalny recesywny, charakteryzująca się nagromadzeniem gangliozydów GM2 w układzie nerwowym wskutek niedoboru heksozominidazy A i B, który jest konsekwencją biallelicznych wariantów patogennych w genie HEXB."},"cs":{"name":"Sandhoffova nemoc","synonyms":["GM2 gangliosidóza, varianta 0","Deficit hexosaminidáz A a B"]},"uk":{"name":"Хвороба Сандхоффа","definition":"A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A and hexosaminidase B deficiency as a consequence of biallelic pathogenic variants in the <i>HEXB</i> gene."},"zh":{"name":"Sandhoff病","synonyms":["己糖胺酶A/B缺乏症"]},"tr":{"name":"Sandhoff hastalığı","synonyms":["GM2 gangliosidosis 0 varyantı","Hekzosaminidaz A ve B eksikliği"]}},"xrefs":[{"source":"OMIM","code":"268800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"708581915"},{"source":"MONDO","code":"0010006","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012497","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0036161","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2521","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98544,"name":"Cerebral lipidosis with dementia","classifications":[156,181]},{"orpha":309152,"name":"GM2 gangliosidosis","classifications":[150,156,181,233]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[{"orpha":309169,"name":"Sandhoff disease, adult form","type":"Clinical subtype"},{"orpha":309155,"name":"Sandhoff disease, infantile form","type":"Clinical subtype"},{"orpha":309162,"name":"Sandhoff disease, juvenile form","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":309155,"name":"Sandhoff disease, infantile form"}},{"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"],"via":{"orpha":309162,"name":"Sandhoff disease, juvenile form"}},{"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"],"via":{"orpha":309169,"name":"Sandhoff disease, adult form"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.49,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.34,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.95,"area":"Turkey","status":"Validated","source":"15275696[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"United States","status":"Validated","source":"2955697[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.67,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Sweden","status":"Validated","source":"25274184[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004343","label":"Abnormal glycosphingolipid metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002333","label":"Motor deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007272","label":"Progressive psychomotor deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Occasional (29-5%)","criteria":null}]}}