{"orpha":79269,"name":"Sanfilippo syndrome type A","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Heparan sulfamidase deficiency","MPS3A","MPSIIIA","Mucopolysaccharidosis type 3A","Mucopolysaccharidosis type IIIA"],"definition":null,"note":"This disease is described under Mucopolysaccharidosis type 3","url":"https://raremap.alftech.space/d/ORPHA-79269/","orphanet_url":"https://www.orpha.net/en/disease/detail/79269","names":{"fr":{"name":"Maladie de Sanfilippo type A","synonyms":["Déficit en héparane sulfamidase","MPS3A","MPSIIIA","Mucopolysaccharidose type 3A","Mucopolysaccharidose type IIIA"]},"de":{"name":"Sanfilippo-Krankheit Typ A","synonyms":["Heparan-Sulfamidase-Mangel","MPS3A","MPSIIIA","Mukopolysaccharidose Typ 3A","Mukopolysaccharidose Typ IIIA"]},"es":{"name":"Síndrome de Sanfilippo tipo A","synonyms":["Deficiencia de heparán sulfamidasa","MPS3A","MPSIIIA","Mucopolisacaridosis tipo 3A","Mucopolisacaridosis tipo IIIA"]},"it":{"name":"Sindrome di Sanfilippo, tipo A","synonyms":["Deficit di eparan-sulfamidasi","MPS3A","MPSIIIA","Mucopolisaccaridosi, tipo 3A","Mucopolisaccaridosi, tipo IIIA"]},"nl":{"name":"Syndroom van Sanfilippo type A","synonyms":["Heparaansulfamidasedeficiëntie","MPS3A","MPSIIIA","Mucopolysacharidose type 3A","Mucopolysacharidose type IIIA"]},"pt":{"name":"Síndrome Sanfilippo tipo A (Mucopolissacaridose tipo 3A)"},"pl":{"name":"Zespół Sanfilippo typu A","synonyms":["MPS3A","MPSIIIA","Mukopolisacharydoza typu 3A","Mukopolisacharydoza typu IIIA","Niedobór sulfamidazy heparanu"]},"cs":{"name":"Sanfilippův syndrom, typ A","synonyms":["Deficit heparansulfamidázy","MPS3A","MPSIIIA","Mukopolysacharidóza, typ 3A","Mukopolysacharidóza, typ IIIA"]},"uk":{"name":"Синдром Санфіліппо, тип А","synonyms":["Дефіцит гепарансульфамідази","MPS3A","MPSIIIA","Мукополісахаридоз типу 3А","Мукополісахаридоз типу IIIА"]},"zh":{"name":"Sanfilippo综合征A型","synonyms":["黏多糖贮积症IIIA型"]},"tr":{"name":"Sanfilippo sendromu tip A","synonyms":["MPS3A","MPSIIIA","Mukopolisakkaridoz tip 3A","Heparan sülfamidaz eksikliği","Mukopolisakkaridoz tip IIIA"]}},"xrefs":[{"source":"OMIM","code":"252900","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":"182200345"},{"source":"MONDO","code":"0009655","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0086647","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7071","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":"SGSH","name":"N-sulfoglucosamine sulfohydrolase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15146460[PMID]","hgnc":"10818","ensembl":"ENSG00000181523","omim":"605270","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.32,"area":"Europe","status":"Validated","source":"European Medicines Agency 2014[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.16,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.88,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.47,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.62,"area":"Estonia","status":"Validated","source":"22480138[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.62,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.052,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"United States","status":"Validated","source":"34051828[PMID]"}],"phenotypes":null}