{"orpha":580,"name":"Mucopolysaccharidosis type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hunter syndrome","Iduronate 2-sulfatase deficiency","MPS2","MPSII","Mucopolysaccharidosis type II"],"definition":"A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-580/","orphanet_url":"https://www.orpha.net/en/disease/detail/580","names":{"fr":{"name":"Mucopolysaccharidose type 2","synonyms":["Déficit en iduronate 2-sulfatase","MPS2","MPSII","Maladie de Hunter","Mucopolysaccharidose type II"],"definition":"Maladie lysosomale avec atteinte multisystémique donnant lieu à une accumulation massive de glycosaminoglycanes et à une grande variété de symptômes, y compris un aspect grossier du visage, caractéristique de la maladie, une petite taille, une atteinte cardiorespiratoire et des anomalies squelettiques. La maladie s'inscrit dans un continuum allant d'une forme sévère avec neurodégénérescence à une forme atténuée sans atteinte neuronale."},"de":{"name":"Mukopolysaccharidose Typ 2","synonyms":["Hunter-Krankheit","Hunter-Syndrom","Iduronat 2-Sulfatase-Mangel","MPS2","MPSII","Mukopolysaccharidose Typ II"],"definition":"Eine lysosomale Speicherkrankheit mit multisystemischer Beteiligung, die zu einer massiven Anhäufung von Glykosaminoglykanen und einer Vielzahl von Symptomen führt, darunter ausgeprägte grobe Gesichtszüge, Kleinwuchs, kardio-respiratorische Beteiligung und Skelettanomalien. Sie manifestiert sich als Kontinuum, das von einer schweren Form mit Neurodegeneration bis zu einer abgeschwächten Form ohne neuronale Beteiligung reicht."},"es":{"name":"Mucopolisacaridosis tipo 2","synonyms":["Deficiencia de iduronato 2-sulfatasa","MPS2","MPSII","Mucopolisacaridosis tipo II","Síndrome de Hunter"],"definition":"Es una enfermedad de depósito lisosomal con afectación multisistémica que conduce a un acúmulo masivo de glucosaminoglucanos y una amplia variedad de síntomas que incluyen rasgos faciales toscos distintivos, talla baja, afectación cardiorrespiratoria y anomalías esqueléticas. Se manifiesta como un continuo clínico que varía desde una forma grave con neurodegeneración hasta una forma atenuada sin afectación neuronal."},"it":{"name":"Mucopolisaccaridosi tipo 2","synonyms":["MPS2","MPSII","Mucopolisaccaridosi, tipo II","Sindrome di Hunter"],"definition":"È una malattia da accumulo lisosomiale con coinvolgimento multisistemico, che causa un accumulo massivo di glicosaminoglicani. Il quadro clinico è molto variabile e comprende l'aspetto grossolano del viso, la bassa statura, il coinvolgimento cardiopolmonare e le anomalie scheletriche. Si manifesta come un continuum che va dalla forma grave associata a degenerazione neurologica, fino alla forma attenuata senza interessamento neurologico."},"nl":{"name":"Mucopolysacharidose type 2","synonyms":["Deficiëntie van iduronaat 2-sulfatase","MPS2","MPSII","Mucopolysacharidose type II","Syndroom van Hunter"],"definition":"Een lysosomale stapelingsziekte met multisystemische betrokkenheid die leidt tot een massale accumulatie van glycosaminoglycanen en een breed scala van symptomen waaronder typische grove gelaatstrekken, kleine gestalte, cardio-respiratoire betrokkenheid en skeletafwijkingen. De ziekte manifesteert zich als een continuüm, gaande van een ernstige vorm met neurodegeneratie tot een zwakke vorm zonder neuronale betrokkenheid."},"pt":{"name":"Mucopolissacaridose tipo 2","synonyms":["Deficiência de iduronato 2-sulfatase","MPS2","Síndrome Hunter"]},"pl":{"name":"Mukopolisacharydoza typu 2","synonyms":["MPS2","MPSII","Mukopolisacharydoza typu II","Niedobór 2-sulfatazy idorunianu","Zespół Huntera"],"definition":"Lizosomalna choroba spichrzeniowa, dotycząca wielu układów, prowadząca do masywnego gromadzenia glikozaminoglikanów i szerokiej gamy objawów, w tym charakterystycznych grubych rysów twarzy, niskiego wzrostu, zajęcia układu krążenia i oddechowego oraz nieprawidłowości szkieletowych. Obejmuje kontinuum fenotypowe od ciężkiej postaci z neurodegeneracją do postaci lżejszej, bez zajęcia neuronów."},"cs":{"name":"Mukopolysacharidóza, typ 2","synonyms":["Deficit iduronát 2-sulfatázy","MPS2","MPSII","Mukopolysacharidóza, typ II","Hunterův syndrom"]},"uk":{"name":"Мукополісахаридоз, тип 2","synonyms":["Синдром Хантера","Дефіцит ідуронат-2-сульфатази","MPS2","MPSII","Мукополісахаридоз II типу"],"definition":"A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement."},"zh":{"name":"粘多糖贮积症2型","synonyms":["艾杜糖醛酸2-硫酸酯酶缺乏症"]},"tr":{"name":"Mukopolisakkaridoz tip 2","synonyms":["MPS2","MPSII","Hunter sendromu","Mukopolisakkaridoz tip II","İduronat 2-sülfataz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"309900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C56.31","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1056274204"},{"source":"MONDO","code":"0010674","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016532","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026705","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6675","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056889","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":217581,"name":"Lysosomal disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]},{"orpha":79213,"name":"Mucopolysaccharidosis","classifications":[147,150,156,189,199,233]},{"orpha":79388,"name":"Mucopolysaccharidosis with skin involvement","classifications":[156,187]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":217093,"name":"Mucopolysaccharidosis type 2, attenuated form","type":"Clinical subtype"},{"orpha":217085,"name":"Mucopolysaccharidosis type 2, severe form","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":217085,"name":"Mucopolysaccharidosis type 2, severe form"}},{"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"],"via":{"orpha":217093,"name":"Mucopolysaccharidosis type 2, attenuated form"}}],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.21,"area":"Italy","status":"Validated","source":"11953730[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.67,"area":"Netherlands","status":"Validated","source":"10480370[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.5,"area":"Sweden","status":"Validated","source":"18681890[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Norway","status":"Validated","source":"18681890[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.4,"area":"Norway","status":"Validated","source":"18681890[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.27,"area":"Denmark","status":"Validated","source":"18681890[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.09,"area":"Portugal","status":"Validated","source":"14685153[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.64,"area":"Germany","status":"Validated","source":"16435194[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.31,"area":"Sweden","status":"Validated","source":"18681890[PMID]_25274184[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.1,"area":"Denmark","status":"Validated","source":"18681890[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.43,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.71,"area":"Ireland","status":"Validated","source":"9439667[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.07,"area":"Taiwan, Province of China","status":"Validated","source":"19396827[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.74,"area":"Australia","status":"Validated","source":"9918480[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.16,"area":"Estonia","status":"Validated","source":"22480138[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Canada","status":"Validated","source":"10617747[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018 [OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.68,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.46,"area":"Poland","status":"Validated","source":"25472774[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.46,"area":"Switzerland","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.74,"area":"Korea, Republic of","status":"Validated","source":"25364648[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"Tunisia","status":"Validated","source":"20209839[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.37,"area":"Brazil","status":"Validated","source":"31926052[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.84,"area":"Japan","status":"Validated","source":"28595941[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"United States","status":"Validated","source":"34051828[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-27","source":"20301451[PMID]_31890590[PMID]_12828746[PMID]","terms":[{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005781","label":"Contractures of the large joints","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008301","label":"Dermatan sulfate excretion in urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030812","label":"Enlarged tonsils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030044","label":"Flexion contracture of digit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002159","label":"Heparan sulfate excretion in urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004582","label":"Irregularity of vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011369","label":"Mongolian blue spot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410018","label":"Recurrent ear infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006979","label":"Sleep-wake cycle disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010656","label":"Abnormal epiphyseal ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030466","label":"Abnormal full-field electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031416","label":"Abnormal nasal mucus secretion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001641","label":"Abnormal pulmonary valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008843","label":"Hip osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000362","label":"Otosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012478","label":"Temporomandibular joint ankylosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001129","label":"Large central visual field defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}