{"orpha":217085,"name":"Mucopolysaccharidosis type 2, severe form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hunter syndrome type A","Iduronate 2-sulfatase deficiency type A","MPS2A","MPSIIA","Mucopolysaccharidosis type 2, early progressive form","Mucopolysaccharidosis type 2, neuropathic form","Mucopolysaccharidosis type 2A","Mucopolysaccharidosis type II, severe form","Mucopolysaccharidosis type IIA"],"definition":"Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217085/","orphanet_url":"https://www.orpha.net/en/disease/detail/217085","names":{"fr":{"name":"Mucopolysaccharidose type 2, forme sévère","synonyms":["Déficit en iduronate 2-sulfatase type A","MPS2A","MPSIIA","Maladie de Hunter type A","Mucopolysaccharidose type 2, forme avec atteinte neurologique","Mucopolysaccharidose type 2, forme à évolution rapide","Mucopolysaccharidose type 2A","Mucopolysaccharidose type II, forme sévère","Mucopolysaccharidose type IIA"],"definition":"Mucopolysaccharidose type 2 (MPS2), forme sévère (MPS2S) caractérisée par une accumulation massive de glycosaminoglycanes associée à une grande variété de symptômes, dont un déclin cognitif rapidement progressif. Elle est le plus souvent létale au cours de la deuxième ou de la troisième décennie de vie."},"de":{"name":"Mukopolysaccharidose Typ 2, schwere Form","synonyms":["Hunter-Syndrom Typ A","Iduronat 2-Sulfatase-Mangel Typ A","MPS2A","MPSIIA","Mukopolysaccharidose Typ 2, frühe progressive Form","Mukopolysaccharidose Typ 2, neuropathische Form","Mukopolysaccharidose Typ 2A","Mukopolysaccharidose Typ II, schwere Form","Mukopolysaccharidose Typ IIA"]},"es":{"name":"Mucopolisacaridosis tipo 2, forma grave","synonyms":["Deficiencia de iduronato-2-sulfatasa tipo A","MPS2A","MPSIIA","Mucopolisacaridosis tipo 2, forma neuropática","Mucopolisacaridosis tipo 2, forma progresiva precoz","Mucopolisacaridosis tipo 2A","Mucopolisacaridosis tipo II, forma grave","Mucopolisacaridosis tipo IIA","Síndrome de Hunter tipo A"],"definition":"La mucopolisacaridosis tipo 2 (MPS2), forma grave (MPS2S), se asocia con un acúmulo masivo de glicosaminoglicanos y una amplia variedad de síntomas que incluyen un deterioro cognitivo rápidamente progresivo. Suele ser fatal en la segunda o tercera década de vida."},"it":{"name":"Mucopolisaccaridosi tipo 2, forma grave","synonyms":["Mucopolisaccaridosi tipo 2, forma neuropatica","Mucopolisaccaridosi tipo 2°","Mucopolisaccaridosi tipo IIA","MPS2A","MPSIIA","Mucopolisaccaridosi tipo II, forma grave","Deficit di iduronato 2-solfatasi tipo A","Sindrome di Hunter tipo A","Mucopolisaccaridosi tipo 2, forma progressiva precoce"]},"nl":{"name":"Mucopolysacharidose type 2, ernstige vorm","synonyms":["Deficiëntie van iduronaat-2-sulfatase type A","MPS2A","MPSIIA","Mucopolysacharidose type 2, neuropatische vorm","Mucopolysacharidose type 2, vroeg progressieve vorm","Mucopolysacharidose type 2A","Mucopolysacharidose type II, ernstige vorm","Mucopolysacharidose type IIA","Syndroom van Hunter type A"],"definition":"De ernstige vorm (MPS2S) van mucopolysacharidose type 2 (MPS2, zie deze term) gaat gepaard met een enorme accumulatie van glycosaminoglycanen en een breed scala aan symptomen, waaronder een snel progressieve cognitieve achteruitgang. Het is meestal fataal in het tweede of derde levensdecennium."},"pt":{"name":"Mucopolissacaridose tipo 2A"},"pl":{"name":"Mukopolisacharydoza typu 2, postać ciężka","synonyms":["MPS2A","MPSIIA","Mukopolisacharydoza typu 2A","Mukopolisacharydoza typu II, postać ciężka","Mukopolisacharydoza typu IIA","Niedobór 2-sulfatazy iduronianu typu A","Zespół Huntera typu A"]},"cs":{"name":"Mukopolysacharidóza, typ 2, těžká forma","synonyms":["Deficit iduronát-2-sulfatázy, typ A","MPS2A","MPSIIA","Mukopolysacharidóza, typ 2A","Mukopolysacharidóza, typ IIA","Hunterův syndrom, typ A","Mukopolysacharidóza, typ II, těžká forma"]},"uk":{"name":"Мукополісахаридоз, тип 2, важка форма","synonyms":["Синдром Хантера, тип А","Дефіцит ідуронат-2-сульфатази типу А","MPS2A","MPSIIA","Мукополісахаридоз типу 2А","Мукополісахаридоз II типу, важка форма","Мукополісахаридоз типу IIA"],"definition":"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade."},"zh":{"name":"重型黏多糖贮积症II型","synonyms":["重型黏多糖贮积症II型"],"definition":"粘多糖贮积症2型（MPS2，见该词条），严重型（MPS2S），与大量粘多糖的积累相关，症状多样，包括快速进展性认知能力下降；患者通常在十岁至三十岁内死亡。"},"tr":{"name":"Mukopolisakkaridoz tip 2, ağır form","synonyms":["MPS2A","MPSIIA","Hunter sendromu tip A","Mukopolisakkaridoz tip 2A","Mukopolisakkaridoz tip IIA","İduronat 2-sülfataz eksikliği tip A","Mukopolisakkaridoz tip II, ağır form"]}},"xrefs":[{"source":"OMIM","code":"309900","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1561374771"},{"source":"MONDO","code":"0016315","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342841","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":580,"name":"Mucopolysaccharidosis type 2","classifications":[146,147,150,156,181,187,189,199,233]}],"children":[],"genes":[{"symbol":"IDS","name":"iduronate 2-sulfatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5389","ensembl":"ENSG00000010404","omim":"300823","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}