{"orpha":79271,"name":"Sanfilippo syndrome type C","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HGSNAT deficiency","Heparan-alpha-glucosaminide N-acetyltransferase deficiency","MPS3C","MPSIIIC","Mucopolysaccharidosis type 3C","Mucopolysaccharidosis type IIIC"],"definition":null,"note":"This disease is described under Mucopolysaccharidosis type 3","url":"https://raremap.alftech.space/d/ORPHA-79271/","orphanet_url":"https://www.orpha.net/en/disease/detail/79271","names":{"fr":{"name":"Maladie de Sanfilippo type C","synonyms":["MPSIIIC","Mucopolysaccharidose type 3C","Mucopolysaccharidose type IIIC","Déficit en HGSNAT","Déficit en héparane-alpha-glucosaminide N-acétyltransférase","MPS3C"]},"de":{"name":"Sanfilippo-Krankheit Typ C","synonyms":["HGSNAT-Mangel","Heparan-Alpha-Glucosaminid N-Acetyltransferase-Mangel","MPS3C","MPSIIIC","Mukopolysaccharidose Typ 3C","Mukopolysaccharidose Typ IIIC"]},"es":{"name":"Síndrome de Sanfilippo tipo C","synonyms":["Deficiencia de HGSNAT","Deficiencia de heparán-alfa-glucosaminida N-acetiltransferasa","MPS3C","MPSIIIC","Mucopolisacaridosis tipo 3C","Mucopolisacaridosis tipo IIIC"]},"it":{"name":"Sindrome di Sanfilippo, tipo C","synonyms":["Deficit di HGSNAT","Deficit di eparan-alfa-glucosaminide N-acetiltransferasi","MPS3C","MPSIIIC","Mucopolisaccaridosi, tipo 3C","Mucopolisaccaridosi, tipo IIIC"]},"nl":{"name":"Syndroom van Sanfilippo type C","synonyms":["HGSNAT-deficiëntie","Heparaan-alfa-glucosaminide-N-acetyltransferasedeficiëntie","MPS3C","MPSIIIC","Mucopolysacharidose type 3C","Mucopolysacharidose type IIIC"]},"pt":{"name":"Síndrome Sanfilippo tipo C (Mucopolissacaridose tipo 3C)"},"pl":{"name":"Zespół Sanfilippo typu C","synonyms":["MPS3C","MPSIIIC","Mukopolisacharydoza typu 3C","Mukopolisacharydoza typu IIIC","Niedobór heparan-alfa-glukozaminido N-acetylotransferazy","Niedobór HGSNAT"]},"cs":{"name":"Sanfilippův syndrom, typ C","synonyms":["Deficit HGSNAT","Deficit heparan-alfa-glukosaminid-N-acetyltransferázy","MPS3C","MPSIIIC","Mukopolysacharidóza, typ 3C","Mukopolysacharidóza, typ IIIC"]},"uk":{"name":"Синдром Санфіліппо, тип С","synonyms":["Дефіцит гепаран-альфа-глюкозамінід N-ацетилтрансферази","Дефіцит HGSNAT","MPS3C","MPSIIIC","Мукополісахаридоз типу 3С","Мукополісахаридоз типу IIIC"]},"zh":{"name":"Sanfilippo综合征C型","synonyms":["乙酰肝素α-氨基葡萄糖苷N-乙酰基转移酶缺乏症"]},"tr":{"name":"Sanfilippo sendromu tip C","synonyms":["MPS3C","MPSIIIC","HGSNAT eksikliği","Mukopolisakkaridoz tip 3C","Mukopolisakkaridoz tip IIIC","Heparan-alfa-glukozaminid N-asetiltransferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"252930","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":"1755913480"},{"source":"MONDO","code":"0009657","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0086649","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7073","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":"HGSNAT","name":"heparan-alpha-glucosaminide N-acetyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17033958[PMID]","hgnc":"26527","ensembl":"ENSG00000165102","omim":"610453","loci":["8p11.21-p11.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.21,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.42,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.34,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0004,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"area":"United States","status":"Validated","source":"34051828[PMID]"}],"phenotypes":null}