{"orpha":583,"name":"Mucopolysaccharidosis type 6","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARSB deficiency","ASB deficiency","Arylsulfatase B deficiency","MPS6","MPSVI","Maroteaux-Lamy disease","Mucopolysaccharidosis type VI","N-acetylgalactosamine 4-sulfatase deficiency"],"definition":"A rare lysosomal storage disease characterized by a wide spectrum of manifestations, notably skeletal dysplasia including short stature, dysostosis multiplex and degenerative joint disease, with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate and chondroitin-4-sulfate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-583/","orphanet_url":"https://www.orpha.net/en/disease/detail/583","names":{"fr":{"name":"Mucopolysaccharidose type 6","synonyms":["Déficit en ARBS","Déficit en ASB","Déficit en arylsulfatase B","MPS6","MPSVI","Maladie de Maroteaux-Lamy","Mucopolysaccharidose type VI"],"definition":"La mucopolysaccharidose de type 6 (MPS 6) est une maladie de surcharge lysosomale caractérisée par une atteinte systémique progressive due à un déficit en aryl sulfatase B (ASB) entraînant une accumulation de dermatane sulfate."},"de":{"name":"Mukopolysaccharidose Typ 6","synonyms":["ARSB-Mangel","ASB-Mangel","Arylsulfatase B-Mangel","MPS6","MPSVI","Maroteaux-Lamy-Syndrom","Mukopolysaccharidose VI","N-Acetylgalactosamin 4-Sulfatase-Mangel"],"definition":"Die Mukopolysaccharidose Typ 6 (MPS6) ist eine lysosomale Speicherkrankheit mit progredienter Multisystem-Beteiligung auf der Grundlage eines Aktivitätsmangels der Arylsulfatase B , der zur Anhäufung von Dermatansulfat führt."},"es":{"name":"Mucopolisacaridosis tipo 6","synonyms":["Deficiencia de ARSB","Deficiencia de ASB","Deficiencia de N-acetilgalactosamina 4-sulfatasa","Deficiencia de arilsulfatasa B","Enfermedad de Maroteaux-Lamy","MPS6","MPSVI","Mucopolisacaridosis tipo VI"],"definition":"La mucopolisacaridosis de tipo 6 (MPS 6) es una enfermedad de almacenamiento lisosomal con afectación sistémica progresiva, asociada a un déficit de arilsulfatasa B (ASB) que conduce a un acúmulo de dermatán sulfato."},"it":{"name":"Mucopolisaccaridosi, tipo 6","synonyms":["Deficit di ARSB","Deficit di ASB","Deficit di N-acetilgalattosamina 4-sulfatasi","Deficit di arilsulfatasi B","MPS6","MPSVI","Mucopolisaccaridosi, tipo VI","Sindrome di Maroteaux-Lamy"],"definition":"La mucopolisaccaridosi tipo 6 (MPS 6) è una malattia da deposito lisosomiale con coinvolgimento multisistemico progressivo, associata al deficit di arilsulfatasi B (ASB), che causa un accumulo di dermatan solfato."},"nl":{"name":"Mucopolysacharidose type 6","synonyms":["ARSB-deficiëntie","ASB-deficiëntie","Arylsulfatase B-deficiëntie","MPS6","MPSVI","Mucopolysacharidose type VI","N-acetylgalactosamine-4-sulfatasedeficiëntie","Ziekte van Maroteaux-Lamy"],"definition":"Mucopolysaccharidose type 6 (MPSVI) is een lysosomale stapelingsziekte met progressieve multisystemische betrokkenheid, geassocieerd met deficiëntie van arylsulfatase B (ASB) die leidt tot accumulatie van dermatansulfaat."},"pt":{"name":"Mucopolissacaridose tipo 6","synonyms":["MPS6"],"definition":"A mucopolissacaridose tipo 6 (MPS 6) é uma doença do armazenamento lisossomal com envolvimento multissistémico progressivo, associado a uma deficiência da enzima arilsulfatase B (ASB), levando à acumulação de sulfato de dermatano."},"pl":{"name":"Mukopolisacharydoza typu 6","synonyms":["Choroba Maroteaux i Lamy'ego","MPS6","MPSVI","Mukopolisacharydoza typu VI","Niedobór 4-sulfatazy N-acetylgalaktozaminy","Niedobór ARSB","Niedobór arylosulfatazy B","Niedobór ASB"],"definition":"Mukopolisacharydoza typu 6 (MPS 6) to lizosomalna choroba spichrzeniowa z postępującym zajęciem wielu układów, która jest związaną z niedoborem arylosulfatazy B (ASB), co prowadzi do gromadzenia się siarczanu dermatanu."},"cs":{"name":"Mukopolysacharidóza, typ 6","synonyms":["Deficit ARSB","Deficit ASB","Deficit arylsulfatázy B","MPS6","MPS VI","Mukopolysacharidóza, typ VI","Deficit N-acetylgalaktosamin-4-sulfatázy","Maroteauxův-Lamyho syndrom","Maroteaux-Lamyho syndrom"]},"uk":{"name":"Мукополісахаридоз, тип 6","synonyms":["Дефіцит ARSB","Дефіцит арилсульфатази В","Дефіцит ASB","Хвороба Марото-Ламі","MPS6","MPSVI","Мукополісахаридоз VI типу","Дефіцит N-ацетилгалактозамін-4-сульфатази"],"definition":"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate."},"zh":{"name":"粘多糖贮积症6型","synonyms":["N-乙酰半乳糖胺-4-硫酸酯酶缺乏症"]},"tr":{"name":"Mukopolisakkaridoz tip 6","synonyms":["MPS6","MPSVI","ASB eksikliği","ARSB eksikliği","Maroteaux-Lamy hastalığı","Arilsülfataz B eksikliği","Mukopolisakkaridoz tip VI","N-asetilgalaktozamin 4-sülfataz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"253200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.33","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1288379621"},{"source":"MONDO","code":"0009661","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009087","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026709","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7095","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056892","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]}],"children":[{"orpha":276212,"name":"Mucopolysaccharidosis type 6, rapidly progressing","type":"Clinical subtype"},{"orpha":276223,"name":"Mucopolysaccharidosis type 6, slowly progressing","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ARSB","name":"arylsulfatase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"714","ensembl":"ENSG00000113273","omim":"611542","loci":["5q14.1"],"via":{"orpha":276212,"name":"Mucopolysaccharidosis type 6, rapidly progressing"}},{"symbol":"ARSB","name":"arylsulfatase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"714","ensembl":"ENSG00000113273","omim":"611542","loci":["5q14.1"],"via":{"orpha":276223,"name":"Mucopolysaccharidosis type 6, slowly progressing"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.23,"area":"Germany","status":"Validated","source":"16435194[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.42,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.23,"area":"Sweden","status":"Validated","source":"18681890[PMID]_25274184[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Sweden","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Norway","status":"Validated","source":"18681890[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Norway","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Denmark","status":"Validated","source":"18681890[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.7,"area":"Denmark","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.37,"area":"Australia","status":"Validated","source":"16600651[PMID]_14608657[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Canada","status":"Validated","source":"10617747[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"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":0.27,"area":"Estonia","status":"Validated","source":"22480138[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.059,"area":"Colombia","status":"Validated","source":"22550061[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Europe","status":"Validated","source":"European Medicines Agency 2001[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"Turkey","status":"Validated","source":"16435194[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"Brazil","status":"Validated","source":"31926052[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0132,"area":"Poland","status":"Validated","source":"25472774[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.85,"area":"Saudi Arabia","status":"Validated","source":"20622343[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Japan","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"Switzerland","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Tunisia","status":"Validated","source":"20209839[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.019,"area":"Korea, Republic of","status":"Validated","source":"25364648[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.011,"area":"United States","status":"Validated","source":"34051828[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","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:0003521","label":"Disproportionate short-trunk short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002656","label":"Epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","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:0007759","label":"Opacification of the corneal stroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000885","label":"Broad ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003300","label":"Ovoid vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}