{"orpha":79272,"name":"Sanfilippo syndrome type D","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["GNS deficiency","Glucosamine N-acetyl-6-sulfatase deficiency","MPS3D","MPSIIID","Mucopolysaccharidosis type 3D","Mucopolysaccharidosis type IIID"],"definition":null,"note":"This disease is described under Mucopolysaccharidosis type 3","url":"https://raremap.alftech.space/d/ORPHA-79272/","orphanet_url":"https://www.orpha.net/en/disease/detail/79272","names":{"fr":{"name":"Maladie de Sanfilippo type D","synonyms":["Déficit en GNS","Déficit en glucosamine N-acétyl-6-sulfatase","MPS3D","MPSIIID","Mucopolysaccharidose type 3D","Mucopolysaccharidose type IIID"]},"de":{"name":"Sanfilippo-Krankheit Typ D","synonyms":["GNS-Mangel","Glucosamin N-Acetyl-6-Sulfatase-Mangel","MPS3D","MPSIIID","Mukopolysaccharidose Typ 3D","Mukopolysaccharidose Typ IIID"]},"es":{"name":"Síndrome de Sanfilippo tipo D","synonyms":["Deficiencia de GNS","Deficiencia de N-acetil-glucosamina-6-sulfatasa","MPS3D","MPSIIID","Mucopolisacaridosis tipo 3D","Mucopolisacaridosis tipo IIID"]},"it":{"name":"Sindrome di Sanfilippo, tipo D","synonyms":["Deficit di GNS","Deficit di glucosamina N-acetil-6-sulfatasi","MPS3D","MPSIIID","Mucopolisaccaridosi, tipo 3D","Mucopolisaccaridosi, tipo IIID"]},"nl":{"name":"Syndroom van Sanfilippo type D","synonyms":["GNS-deficiëntie","Glucosamine N-acetyl-6-sulfatasedeficiëntie","MPS3D","MPSIIID","Mucopolysacharidose type 3D","Mucopolysacharidose type IIID"]},"pt":{"name":"Síndrome Sanfilippo tipo D (Mucopolissacaridose tipo 3D)"},"pl":{"name":"Zespół Sanfilippo typu D","synonyms":["MPS3D","MPSIIID","Mukopolisacharydoza typu 3D","Mukopolisacharydoza typu IIID","Niedobór GNS","Niedobór N-acetylo-6-sulfatazy glukozaminy"]},"cs":{"name":"Sanfilippův syndrom, typ D","synonyms":["Deficit GNS","Deficit glukosamin-N-acetyl-6-sulfatázy","MPS3D","MPSIIID","Mukopolysacharidóza, typ 3D","Mukopolysacharidóza, typ IIID"]},"uk":{"name":"Синдром Санфіліппо, тип D","synonyms":["Дефіцит глюкозамін-N-ацетил-6-сульфатази","Дефіцит GNS","MPS3D","MPSIIID","Мукополісахаридоз типу 3D","Мукополісахаридоз типу IIID"]},"zh":{"name":"Sanfilippo综合征D型","synonyms":["氨基葡萄糖N-乙酰-6-硫酸酯酶缺乏症"]},"tr":{"name":"Sanfilippo sendromu tip D","synonyms":["MPS3D","MPSIIID","GNS eksikliği","Mukopolisakkaridoz tipi 3D","Mukopolisakkaridoz tip IIID","Glukozamin N-asetil-6-sülfataz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"252940","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":"1780990193"},{"source":"MONDO","code":"0009658","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0086650","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7074","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":"GNS","name":"glucosamine (N-acetyl)-6-sulfatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12573255[PMID]_17998446[PMID]","hgnc":"4422","ensembl":"ENSG00000135677","omim":"607664","loci":["12q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Australia","status":"Validated","source":"9918480[PMID]"}],"phenotypes":null}