{"orpha":579,"name":"Mucopolysaccharidosis type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha-L-iduronidase deficiency","MPS1","MPSI","Mucopolysaccharidosis type I"],"definition":"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-579/","orphanet_url":"https://www.orpha.net/en/disease/detail/579","names":{"fr":{"name":"Mucopolysaccharidose type 1","synonyms":["Déficit en alpha-L-iduronidase","MPS1","MPSI","Mucopolysaccharidose type I"],"definition":"La mucopolysaccharidose type 1 (MPS1) est une maladie rare du stockage lysosomal appartenant au groupe des mucopolysaccharidoses. Il existe 3 formes, de gravité très variable, avec le syndrome de Hurler pour la forme la plus grave, le syndrome de Scheie pour la forme la plus légère, et le syndrome de Hurler-Scheie qui présente un phénotype intermédiaire."},"de":{"name":"Mukopolysaccharidose Typ 1","synonyms":["Alpha-L-Iduronidase-Mangel","MPS1","MPSI","Mukopolysaccharidose Typ I"],"definition":"Die Mukopolysaccharidose Typ 1 (MPS I) ist eine seltene lysosomale Speicherkrankheit aus der Gruppe der Mukopolysaccharidosen. Es gibt drei Varianten, die sich im Schweregrad erheblich unterscheiden: Die schwerste Form ist das Hurler-Syndrom, die leichteste das Scheie-Syndrom. Einen intermediären Phänotyp hat das Hurler-Scheie-Syndrom."},"es":{"name":"Mucopolisacaridosis tipo 1","synonyms":["Deficiencia de alfa-L-iduronidasa","MPS1","MPSI","Mucopolisacaridosis tipo I"],"definition":"La mucopolisacaridosis tipo 1 (MPS 1) es una enfermedad por almacenamiento lisosomal del grupo de las mucopolisacaridosis. Existen 3 variantes, que difieren mucho en su gravedad, siendo el síndrome de Hurler el más grave, el de Scheie el más leve, y el de Hurler-Scheie el intermedio."},"it":{"name":"Mucopolisaccaridosi, tipo 1","synonyms":["Deficit di alfa-L-iduronidasi","MPS1","MPSI","Mucopolisaccaridosi, tipo I"]},"nl":{"name":"Mucopolysacharidose type 1","synonyms":["Deficiëntie van alfa-L-iduronidase","MPS1","MPSI","Mucopolysacharidose type I"],"definition":"Mucopolysaccharidose type 1 (MPS 1) is een zeldzame lysosomale stapelingsziekte die behoort tot de groep mucopolysaccharidoses. Er zijn drie varianten, sterk verschillend in ernst, waarbij Hurlersyndroom de meest ernstige variant is, Scheiesyndroom de mildste variant en Hurler-Scheiesyndroom een intermediair fenotype geeft."},"pt":{"name":"Mucopolissacaridose tipo 1","synonyms":["Deficiência de alfa-L-iduronidase","MPS1","Síndrome Hurler","Síndrome Scheie"],"definition":"A mucopolissacaridose tipo 1 (MPS 1) é uma doença de armazenamento lisossomal rara pertencente ao grupo das mucopolissacaridoses. Existem três variantes, diferindo amplamente na sua gravidade, sendo a síndrome Hurler a mais grave, a síndrome Scheie a mais ligeira e a síndrome Hurler-Scheie a apresentar um fenótipo intermédio."},"pl":{"name":"Mukopolisacharydoza typu 1","synonyms":["MPS1","MPSI","Mukopolisacharydoza typu I","Niedobór alfa-L-iduronidazy"],"definition":"Mukopolisacharydoza typu 1 (MPS 1) jest rzadką lizosomalną chorobą spichrzeniową z grupy mukopolisacharydoz. Istnieją trzy warianty o różnym stopniu nasilenia objawów, przy czym zespół Hurlera jest najcięższy, zespół Scheie - najłagodniejszy, zaś zespół Hurler-Scheie ma fenotyp pośredni."},"cs":{"name":"Mukopolysacharidóza, typ 1","synonyms":["Deficit alfa -L-iduronidázy","MPS1","MPSI","Mukopolysacharidóza I. typu"]},"uk":{"name":"Мукополісахаридоз, тип 1","synonyms":["Дефіцит альфа-L-ідуронідази","MPS1","MPSI","Мукополісахаридоз I типу"],"definition":"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype."},"zh":{"name":"粘多糖贮积症1型","synonyms":["α-L-艾杜糖醛酸酶缺乏症"]},"tr":{"name":"Mukopolisakkaridoz tip 1","synonyms":["MPS1","MPSI","Mukopolisakkaridoz tip I","Alfa-L-iduronidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"607014","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607015","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607016","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C56.30","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1539226250"},{"source":"MONDO","code":"0001586","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008059","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023786","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10335","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056886","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]},{"orpha":79213,"name":"Mucopolysaccharidosis","classifications":[147,150,156,189,199,233]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":93473,"name":"Hurler syndrome","type":"Clinical subtype"},{"orpha":93476,"name":"Hurler-Scheie syndrome","type":"Clinical subtype"},{"orpha":93474,"name":"Scheie syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"IDUA","name":"alpha-L-iduronidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8680403[PMID]","hgnc":"5391","ensembl":"ENSG00000127415","omim":"252800","loci":["4p16.3"],"via":{"orpha":93473,"name":"Hurler syndrome"}},{"symbol":"IDUA","name":"alpha-L-iduronidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8680403[PMID]","hgnc":"5391","ensembl":"ENSG00000127415","omim":"252800","loci":["4p16.3"],"via":{"orpha":93474,"name":"Scheie syndrome"}},{"symbol":"IDUA","name":"alpha-L-iduronidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8680403[PMID]","hgnc":"5391","ensembl":"ENSG00000127415","omim":"252800","loci":["4p16.3"],"via":{"orpha":93476,"name":"Hurler-Scheie syndrome"}}],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.19,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.67,"area":"Sweden","status":"Validated","source":"18681890[PMID]_25274184[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.7,"area":"Sweden","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.85,"area":"Norway","status":"Validated","source":"18681890[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":31.0,"area":"Norway","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.54,"area":"Denmark","status":"Validated","source":"18681890[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.4,"area":"Denmark","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Ireland","status":"Validated","source":"18463126[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.07,"area":"United Kingdom","status":"Validated","source":"18796143[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.63,"area":"Tunisia","status":"Validated","source":"20209839[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"Taiwan, Province of China","status":"Validated","source":"19396827[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.58,"area":"Canada","status":"Validated","source":"10617747[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.14,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.72,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.69,"area":"Germany","status":"Validated","source":"16435194[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.33,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.82,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.23,"area":"Japan","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"Switzerland","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"Poland","status":"Validated","source":"25472774[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Brazil","status":"Validated","source":"31926052[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.34,"area":"United States","status":"Validated","source":"DOI: https://doi.org/10.1016/j.ymgme.2016.11.285[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.62,"area":"Saudi Arabia","status":"Validated","source":"20622343[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.21,"area":"Korea, Republic of","status":"Validated","source":"25364648[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008155","label":"Mucopolysacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100765","label":"Abnormality of the tonsils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","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:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","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:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100261","label":"Abnormal tendon morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}