{"orpha":309297,"name":"Mucopolysaccharidosis type 4A","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["GALNS deficiency","Galactosamine-6-sulfatase deficiency","MPS4A","MPSIVA","Morquio disease type A","Mucopolysaccharidosis type IVA","N-acetylgalactosamine-6-sulfate sulfatase deficiency"],"definition":null,"note":"This disease is described under Mucopolysaccharidosis type 4","url":"https://raremap.alftech.space/d/ORPHA-309297/","orphanet_url":"https://www.orpha.net/en/disease/detail/309297","names":{"fr":{"name":"Mucopolysaccharidose type 4A","synonyms":["Déficit en GALNS","Déficit en N-acetylgalactosamine-6-sulfate sulfatase","Déficit en galactosamine-6-sulfatase","MPS4A","Maladie de Morquio type A","Mucopolysaccharidose type IVA"]},"de":{"name":"Mukopolysaccharidose Typ 4A","synonyms":["Galaktosamin-6-Sulfatase-Mangel","MPS4A","MPSIVA","Morquio-Krankheit Typ A","Mukopolysaccharidose Typ IVA","N-Acetyl-Glukosamin-6-Sulfatsulfatase-Mangel","GALNS-Mangel"]},"es":{"name":"Mucopolisacaridosis tipo 4A","synonyms":["Deficiencia de GALNS","Deficiencia de N-acetilgalactosamina-6-sulfato sulfatasa","Deficiencia de galactosamina-6-sulfatasa","Enfermedad de Morquio tipo A","MPS4A","MPSIVA","Mucopolisacaridosis tipo IVA"]},"it":{"name":"Mucopolisaccaridosi, tipo 4A","synonyms":["Deficit di GALNS","Deficit di N-acetilgalattosamina-6-solfato solfatasi","Deficit di galattosamina-6-solfatasi","MPS4A","MPSIVA","Malattia di Morquio, tipo A","Mucopolisaccaridosi, tipo IVA"]},"nl":{"name":"Mucopolysacharidose type 4A","synonyms":["Mucopolysacharidose type IVA","N-acetylgalactosamine-6-sulfaatsulfatasedeficiëntie","Ziekte van Morquio type A","GALNS-deficiëntie","Galactosamine-6-sulfatasedeficiëntie","MPS4A","MPSIVA"]},"pt":{"name":"Mucopolissacaridose tipo 4A"},"pl":{"name":"Mukopolisacharydoza typu 4A","synonyms":["Choroba Morquio typu A","MPS4A","MPSIVA","Mukopolisacharydoza typu IVA","Niedobór galaktozamino-6-sulfatazy","Niedobór GALNS","Niedobór sulfatazy N-acetylgalaktozamino-6-siarczanu"]},"cs":{"name":"Mukopolysacharidóza, typ 4A","synonyms":["Deficit GALNS","Deficit galaktosamin-6-sulfatázy","MPS4A","MPSIVA","Morquiova nemoc, typ A","Mukopolysacharidóza typ IVA","Deficit N-acetylgalaktosamin-6-sulfát sulfatázy"]},"uk":{"name":"Мукополісахаридоз, тип 4А","synonyms":["Дефіцит галактозамін-6-сульфатази","Дефіцит GALNS","Хвороба Моркіо, тип А","MPS4A","MPSIVA","Мукополісахаридоз типу IVA","Дефіцит N-ацетилгалактозамін-6-сульфатсульфатази"]},"zh":{"name":"黏多糖贮积症4A型","synonyms":["N-乙酰半乳糖胺-6-硫酸盐硫酸酯酶缺乏"]},"tr":{"name":"Mukopolisakkaridoz tip 4A","synonyms":["MPS4A","MPSIVA","GALNS eksikliği","Morquio hastalığı tip A","Mukopolisakkaridoz tip IVA","Galaktozamin-6-sülfataz eksikliği","N-asetilgalaktozamin-6-sülfat sülfataz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"253000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.32","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1919173641"},{"source":"MONDO","code":"0009659","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0086651","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3785","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":582,"name":"Mucopolysaccharidosis type 4","classifications":[147,150,156,189,199,233]}],"children":[],"genes":[{"symbol":"GALNS","name":"galactosamine (N-acetyl)-6-sulfatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23844448[PMID]","hgnc":"4122","ensembl":"ENSG00000141012","omim":"612222","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Germany","status":"Validated","source":"16435194[PMID]_25404155[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Germany","status":"Validated","source":"25404155[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"United Arab Emirates","status":"Validated","source":"23430803[PMID]_25404155[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.46,"area":"United Arab Emirates","status":"Validated","source":"25404155[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.497,"area":"Australia","status":"Validated","source":"9918480[PMID]_25404155[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.153,"area":"Australia","status":"Validated","source":"25404155[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.48,"area":"Canada","status":"Validated","source":"10617747[PMID]_25404155[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2009[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Canada","status":"Validated","source":"25404155[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.029,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0848,"area":"Brazil","status":"Validated","source":"35209917[PMID]"}],"phenotypes":null}