{"orpha":217093,"name":"Mucopolysaccharidosis type 2, attenuated form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hunter syndrome type B","Iduronate 2-sulfatase deficiency type B","MPS2B","MPSIIB","Mucopolysaccharidosis type 2, non-neuropathic form","Mucopolysaccharidosis type 2, slowly progressive form","Mucopolysaccharidosis type 2B","Mucopolysaccharidosis type II, attenuated form","Mucopolysaccharidosis type IIB"],"definition":"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217093/","orphanet_url":"https://www.orpha.net/en/disease/detail/217093","names":{"fr":{"name":"Mucopolysaccharidose type 2, forme atténuée","synonyms":["Déficit en iduronate 2-sulfatase type B","MPS2B","MPSIIB","Maladie de Hunter type B","Mucopolysaccharidose type 2, forme sans atteinte neurologique","Mucopolysaccharidose type 2, forme à évolution lente","Mucopolysaccharidose type 2B","Mucopolysaccharidose type II, forme atténuée","Mucopolysaccharidose type IIB"],"definition":"Forme la moins sévère de la mucopolysaccharidose type 2 (MPS2), entraînant une accumulation massive de glycosaminoglycanes et une grande variété de symptômes, notamment un faciès particulier, une petite taille, des troubles cardiorespiratoires et squelettiques. Elle se différencie de la mucopolysaccharidose type 2, forme sévère, par l'absence de déclin cognitif."},"de":{"name":"Mukopolysaccharidose Typ 2, attenuierte Form","synonyms":["Hunter-Syndrom Typ B","Iduronat 2-Sulfatase-Mangel Typ B","MPS2B","MPSIIB","Mukopolysaccharidose 2B","Mukopolysaccharidose Typ 2, langsam fortschreitende Form","Mukopolysaccharidose Typ 2, nicht-neuropathische Form","Mukopolysaccharidose Typ II, attenuierte Form","Mukopolysaccharidose Typ IIB"]},"es":{"name":"Mucopolisacaridosis tipo 2, forma atenuada","synonyms":["Deficiencia de iduronato-2-sulfatasa tipo B","MPS2B","MPSIIB","Mucopolisacaridosis tipo 2, forma de progresión lenta","Mucopolisacaridosis tipo 2, forma no neuropática","Mucopolisacaridosis tipo 2B","Mucopolisacaridosis tipo II, forma atenuada","Mucopolisacaridosis tipo IIB","Síndrome de Hunter tipo B"],"definition":"La mucopolisacaridosis tipo 2, forma atenuada (MPS2att), la forma menos grave de MPS2, conduce a un acúmulo masivo de glicosaminoglicanos y a una amplia variedad de síntomas que incluyen facies distintiva, talla baja, hallazgos cardiorrespiratorios y esqueléticos. Se diferencia de la mucopolisacaridosis tipo 2, forma grave, por la ausencia de deterioro cognitivo."},"it":{"name":"Mucopolisaccaridosi tipo 2, forma attenuata","synonyms":["Mucopolisaccaridosi tipo IIB","Mucopolisaccaridosi tipo 2B","Mucopolisaccaridosi tipo 2, forma a progressione lenta","MPS2B","MPSIIB","Mucopolisaccaridosi tipo II, forma attenuata","Deficit di iduronato 2-solfatasi tipo B","Sindrome di Hunter tipo B","Mucopolisaccaridosi tipo 2, forma non neuropatica"]},"nl":{"name":"Mucopolysacharidose type 2, geattenueerde vorm","synonyms":["Deficiëntie van iduronaat-2-sulfatase type B","MPS2B","MPSIIB","Mucopolysacharidose type 2, niet-neuropathische vorm","Mucopolysacharidose type 2, traag progressieve vorm","Mucopolysacharidose type II, geattenueerde vorm","Mucopolysacharidose type IIB","Syndroom van Hunter type B"],"definition":"De verzwakte of minder ernstige vorm van mucopolysacharidose type 2 (MPS2att) (zie deze term) leidt tot een enorme accumulatie van glycosaminoglycanen en een breed scala aan symptomen zoals onderscheidende gelaatskenmerken, kleine gestalte, cardiorespiratoire en skeletale bevindingen. De aandoening verschilt van de ernstige vorm van mucopolysaccharidose type 2 (zie deze term) door de afwezigheid van cognitieve achteruitgang."},"pt":{"name":"Mucopolissacaridose tipo 2B"},"pl":{"name":"Mukopolisacharydoza typu 2, postać poronna","synonyms":["MPS2B","MPSIIB","Mukopolisacharydoza typu 2B","Mukopolisacharydoza typu II, postać poronna","Mukopolisacharydoza typu IIB","Niedobór 2-sulfatazy iduronianu typu B","Zespół Huntera typu B"]},"cs":{"name":"Mukopolysacharidóza, typ 2, mírná forma","synonyms":["Deficit iduronát-2-sulfatázy, typ B","MPS2B","MPSIIB","Mukopolysacharidóza, typ 2B","Mukopolysacharidóza, typ IIB","Hunterův syndrom, typ B","Mukopolysacharidóza, typ II, mírnější forma"]},"uk":{"name":"Мукополісахаридоз, тип 2, легка форма","synonyms":["Синдром Хантера, тип В","Дефіцит ідуронат-2-сульфатази типу В","MPS2B","MPSIIB","Мукополісахаридоз типу 2B","Мукополісахаридоз II типу, полегшена форма","Мукополісахаридоз типу IIB"],"definition":"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline."},"zh":{"name":"轻型黏多糖贮积症II型","synonyms":["轻型黏多糖贮积症II型"],"definition":"粘多糖贮积症2型，减毒型（MPS2att），MPS2的中重型（见该词条），导致粘多糖大量积聚和各种症状，包括特殊相貌、身材矮小、心肺和骨骼症状。它与粘多糖贮积症2型，严重型（见该词条）的不同在于没有认知功能减退。"},"tr":{"name":"Mukopolisakkaridoz tip 2, zayıflatılmış form","synonyms":["MPS2B","MPSIIB","Hunter sendromu tip B","Mukopolisakkaridoz tip 2B","Mukopolisakkaridoz tip IIB","İduronat 2-sülfataz eksikliği tip B","Mukopolisakkaridoz tip II, zayıflatılmış 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":"1412221345"},{"source":"MONDO","code":"0016316","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679815","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":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}