{"orpha":309155,"name":"Sandhoff disease, infantile form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Beta-hexosaminidase subunit beta deficiency, infantile form","GM2 gangliosidosis, Sandhoff variant, infantile form","GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form"],"definition":null,"note":"This disease is described under Sandhoff disease","url":"https://raremap.alftech.space/d/ORPHA-309155/","orphanet_url":"https://www.orpha.net/en/disease/detail/309155","names":{"fr":{"name":"Maladie de Sandhoff infantile","synonyms":["Déficit en sous-unité bêta-hexosaminidase bêta, forme infantile","Gangliosidose à GM2, variant Sandhoff, forme infantile","Gangliosidose à GM2, variant déficit en hexosaminidase A et B, forme infantile"]},"de":{"name":"Sandhoff-Krankheit, infantile Form","synonyms":["Beta-Untereinheit-Defizienz der Beta-Hexosaminidase, infantile Form","GM2-Gangliosidose, Hexosaminidase-A/B-Mangel Variante, infantile Form","GM2-Gangliosidose, Sandhoff-Variante, infantile Form"]},"es":{"name":"Enfermedad de Sandhoff, forma infantil","synonyms":["Deficiencia de la subunidad beta de la beta-hexosaminidasa, forma infantil","Gangliosidosis GM2, variante de Sandhoff, forma infantil","Gangliosidosis GM2, variante deficiencia de hexosaminidasa A y B, forma infantil"]},"it":{"name":"Malattia di Sandhoff, forma infantile","synonyms":["Deficit della subunità beta della esosaminidasi beta, forma infantile","Gangliosidosi GM2, variante deficit di esosaminidasi A e B, forma infantile","Gangliosidosi GM2, variante di Sandhoff, forma infantile"]},"nl":{"name":"Ziekte van Sandhoff, infantiele vorm","synonyms":["Deficiëntie van bèta-hexosaminidase subeenheid bèta, infantiele vorm","GM2-gangliosidose, Sandhoff-variant, infantiele vorm","GM2-gangliosidose, variant met deficiëntie van hexosaminidase A en B, infantiele vorm"]},"pt":{"name":"Doença Sandhoff, forma da infância","synonyms":["Deficiência da subunidade beta da beta-hexosaminidase, forma da infância","Gangliosidose GM2, variante Sandhoff, forma da infância","Gangliosidose GM2, variante com deficiência de hexosaminidase A e B, forma da infância"]},"pl":{"name":"Choroba Sandhoffa, postać niemowlęca","synonyms":["Gangliozydoza dziecięca GM2 wariant 0","Niedobór heksozoaminidazy A i B, postać niemowlęca"]},"cs":{"name":"Sandhoffova nemoc, infantilní forma","synonyms":["Deficit hexosaminidázy A a B, infantilní forma","Infantilní GM2 gangliosidóza, varianta 0"]},"uk":{"name":"Хвороба Сандхоффа, інфантильна форма","synonyms":["Дефіцит бета-субодиниці бета-гексозамінідази, дитяча форма","GM2 гангліозидоз, варіант дефіциту гексозамінідази А і В, дитяча форма","GM2 гангліозидоз, варіант Сандхоффа, інфантильна форма"]},"zh":{"name":"婴儿型桑德霍夫病","synonyms":["婴儿型己糖胺酶A和B缺乏"]},"tr":{"name":"Sandhoff hastalığı, infantil form","synonyms":["İnfantil GM2 gangliosidoz 0 varyantı","Hekzosaminidaz A ve B eksikliği, infantil form"]}},"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":"596061472"},{"source":"MONDO","code":"0017721","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751490","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":["Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-10-04","source":"35420740[PMID]_33407268[PMID]_30075786[PMID]_31919734[PMID]","terms":[{"hpo":"HP:0033978","label":"Reduced beta-hexosaminidase activity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002267","label":"Exaggerated startle response","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007083","label":"Hyperactive patellar reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032794","label":"Myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004481","label":"Progressive macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100814","label":"Blue nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010780","label":"Hyperacusis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very rare (<4-1%)","criteria":null}]}}