{"orpha":79270,"name":"Sanfilippo syndrome type B","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MPS3B","MPSIIIB","Mucopolysaccharidosis type 3B","Mucopolysaccharidosis type IIIB","N-acetyl-alpha-glucosaminidase deficiency"],"definition":null,"note":"This disease is described under Mucopolysaccharidosis type 3","url":"https://raremap.alftech.space/d/ORPHA-79270/","orphanet_url":"https://www.orpha.net/en/disease/detail/79270","names":{"fr":{"name":"Maladie de Sanfilippo type B","synonyms":["Déficit en N-acétyl-alpha-glucosaminidase","MPS3B","MPSIIIB","Mucopolysaccharidose type 3B","Mucopolysaccharidose type IIIB"]},"de":{"name":"Sanfilippo-Krankheit Typ B","synonyms":["MPS3B","MPSIIIB","Mukopolysaccharidose Typ 3B","Mukopolysaccharidose Typ IIIB","N-Acetyl-Alpha-Glucosaminidase-Mangel"]},"es":{"name":"Síndrome de Sanfilippo tipo B","synonyms":["Deficiencia de N-acetil-alfa-glucosaminidasa","MPS3B","MPSIIIB","Mucopolisacaridosis tipo 3B","Mucopolisacaridosis tipo IIIB"]},"it":{"name":"Sindrome di Sanfilippo, tipo B","synonyms":["Deficit di N-acetil-alfa-glucosaminidasi","MPS3B","MPSIIIB","Mucopolisaccaridosi, tipo 3B","Mucopolisaccaridosi, tipo IIIB"]},"nl":{"name":"Syndroom van Sanfilippo type B","synonyms":["MPS3B","MPSIIIB","Mucopolysacharidose type 3B","Mucopolysacharidose type IIIB","N-acetyl-alfa-glucosaminidasedeficiëntie"]},"pt":{"name":"Síndrome Sanfilippo tipo B (Mucopolissacaridose tipo 3B)"},"pl":{"name":"Zespół Sanfilippo typu B","synonyms":["MPS3B","MPSIIIB","Mukopolisacharydoza typu 3B","Mukopolisacharydoza typu IIIB","Niedobór N-acetylo-alfa-glukozoaminidazy"]},"cs":{"name":"Sanfilippův syndrom, typ B","synonyms":["MPS3B","MPSIIIB","Mukopolysacharidóza, typ 3B","Mukopolysacharidóza, typ IIIB","Deficit N-acetyl-alfa-glukosaminidázy"]},"uk":{"name":"Синдром Санфіліппо, тип В","synonyms":["MPS3B","MPSIIIB","Мукополісахаридоз типу 3B","Мукополісахаридоз типу IIIB","Дефіцит N-ацетил-альфа-глюкозамінідази"]},"zh":{"name":"Sanfilippo综合征B型","synonyms":["N-乙酰-α-氨基葡萄糖苷酶缺乏症"]},"tr":{"name":"Sanfilippo sendromu tip B","synonyms":["MPS3B","MPSIIIB","Mukopolisakkaridoz tip 3B","Mukopolisakkaridoz tip IIIB","N-asetil-alfa-glukozaminidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"252920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"117303909"},{"source":"MONDO","code":"0009656","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0086648","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7072","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":581,"name":"Mucopolysaccharidosis type 3","classifications":[147,150,156,181,189,199,233]}],"children":[],"genes":[{"symbol":"NAGLU","name":"N-acetyl-alpha-glucosaminidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16151907[PMID]","hgnc":"7632","ensembl":"ENSG00000108784","omim":"609701","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"European Medicines Agency 2013[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.42,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.72,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.47,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.014,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"United States","status":"Validated","source":"34051828[PMID]"}],"phenotypes":null}