{"orpha":584,"name":"Mucopolysaccharidosis type 7","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Beta-glucuronidase deficiency","MPS7","MPSVII","Mucopolysaccharidosis type VII","Sly disease"],"definition":"A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-584/","orphanet_url":"https://www.orpha.net/en/disease/detail/584","names":{"fr":{"name":"Mucopolysaccharidose type 7","synonyms":["Déficit en bêta-glucuronidase","MPS7","MPSVII","Maladie de Sly","Mucopolysaccharidose type VII"],"definition":"Maladie lysosomale rare d'origine génétique caractérisée par une accumulation de glycosaminoglycanes dans le tissu conjonctif entraînant une atteinte multisystémique progressive allant de légère à sévère. Les caractéristiques les plus constantes sont une atteinte musculo-squelettique (notamment dysostose multiplex, restriction articulaire, déformations thoraciques et petite taille), un vocabulaire limité, une déficience intellectuelle, un aspect grossier du visage et un cou court, une atteinte pulmonaire (notamment restriction de la fonction pulmonaire), une opacité cornéenne et une valvulopathie cardiaque."},"de":{"name":"Mukopolysaccharidose Typ 7","synonyms":["Beta-Glucuronidasemangel","MPS7","MPSVII","Mukopolysaccharidose Typ VII","Sly-Krankheit"],"definition":"Eine seltene, genetisch bedingte lysosomale Speicherkrankheit, die durch eine Anhäufung von Glykosaminoglykanen im Bindegewebe gekennzeichnet ist und zu einer fortschreitenden Multisystembeteiligung führt, deren Schweregrad von leicht bis schwer reicht. Zu den konsistentesten Merkmalen gehören die Beteiligung des Bewegungsapparats (insbesondere Dysostosis multiplex, Gelenkeinschränkungen, Thoraxanomalien und Kleinwuchs), ein eingeschränkter Wortschatz, Intelligenzminderung, grobe Gesichtszüge mit kurzem Hals, eine Lungenbeteiligung (überwiegend verminderte Lungenfunktion), Hornhauttrübung und eine Herzklappenerkrankung."},"es":{"name":"Mucopolisacaridosis tipo 7","synonyms":["Deficiencia de beta-glucoronidasa","Enfermedad de Sly","MPS7","MPSVII","Mucopolisacaridosis tipo VII"],"definition":"Es una enfermedad genética y poco frecuente de depósito lisosomal caracterizada por el acúmulo de glicosaminoglicanos en el tejido conectivo, que resulta en una afectación mutisistémica progresiva variable, que va de leve a grave. Los rasgos más consistentes incluyen la afectación musculoesquelética (particularmente disostosis múltiple, restricción articular, anomalías del tórax y talla baja), vocabulario limitado, discapacidad intelectual, facies tosca con cuello corto, afectación pulmonar (predominantemente disminución de la función pulmonar), opacidad corneal y enfermedad valvular cardiaca."},"it":{"name":"Mucopolisaccaridosi, tipo 7","synonyms":["Deficit di beta-glucuronidasi","MPS7","MPSVII","Malattia di Sly","Mucopolisaccaridosi, tipo VII"],"definition":"La mucopolisaccaridosi tipo 7 è una malattia genetica rara da accumulo lisosomiale, caratterizzata dall'accumulo di glicosaminoglicani nel tessuto connettivo, che comporta un interessamento multisistemico progressivo di gravità variabile, da lieve a grave. I principali segni clinici comprendono l'interessamento muscolo-scheletrico (disostosi multipla, limitazioni dei movimenti articolari, anomalie del torace e bassa statura), la riduzione del linguaggio, la disabilità intellettiva, l'aspetto grossolano del viso, il collo corto, l'interessamento del polmone (riduzione della funzione polmonare), le opacità corneali e i difetti delle valvole cardiache."},"nl":{"name":"Mucopolysacharidose type 7","synonyms":["Bèta-glucuronidasedeficiëntie","MPS7","MPSVII","Mucopolysacharidose type VII","Ziekte van Sly"],"definition":"Een zeldzame, genetische lysosomale stapelingsziekte gekarakteriseerd door accumulatie van glycosaminoglycanen in bindweefsel, wat leidt tot progressieve multisystemische betrokkenheid met een gradatie van ernst gaande van mild tot ernstig. De meest consistente kenmerken omvatten musculoskeletale betrokkenheid (vooral dysostosis multiplex, articulaire restrictie, afwijkingen van de thorax, en kleine gestalte), beperkte vocabularium, intellectuele achterstand, grof gelaat met een korte nek/hals, pulmonale betrokkenheid (voornamelijk verminderde longfunctie), vertroebeling van het hoornvlies, en hartklepaandoening."},"pt":{"name":"Mucopolisacaridose tipo 7","synonyms":["Deficiência de beta-glucuronidase","Doença de Sly"]},"pl":{"name":"Mukopolisacharydoza typu 7","synonyms":["Choroba Sly","MPS7","MPSVII","Mukopolisacharydoza typu VII","Niedobór beta-glukuronidazy"],"definition":"Rzadka, genetyczna lizosomalna choroba spichrzeniowa o nasileniu łagodnym lub umiarkowanym, charakteryzująca się gromadzeniem glikozaminoglikanów w tkance łącznej, co prowadzi do postępującego zajęcia wielu układów. Najbardziej spójne cechy obejmują zajęcie układu mięśniowo-szkieletowego (szczególnie dysostozę mnogą, ograniczenie ruchomości stawów, nieprawidłowości klatki piersiowej oraz niski wzrost), ograniczony zasób słów, niepełnosprawność intelektualną, twarz o grubych rysach, krótką szyję, zajęcie płuc (głównie pogorszenie funkcjonalne), zmętnienie rogówki i chorobę zastawek serca."},"cs":{"name":"Mukopolysacharidóza, typ 7","synonyms":["Deficit beta-glukuronidázy","MPS7","MPSVII","Mukopolysacharidóza, typ VII","Slyova choroba"]},"uk":{"name":"Мукополісахаридоз, тип 7","synonyms":["Дефіцит бета-глюкуронідази","MPS7","MPSVII","Мукополісахаридоз VII типу","Хвороба Слая"],"definition":"A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease."},"zh":{"name":"粘多糖贮积症7型","synonyms":["β-葡糖醛酸糖苷酶缺乏症"]},"tr":{"name":"Mukopolisakkaridoz tip 7","synonyms":["MPS7","MPSVII","Sly hastalığı","Beta-glukuronidaz eksikliği","Mukopolisakkaridoz tip VII"]}},"xrefs":[{"source":"OMIM","code":"253220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1563668250"},{"source":"MONDO","code":"0009662","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016538","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085132","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7096","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056893","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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GUSB","name":"glucuronidase beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19224584[PMID]","hgnc":"4696","ensembl":"ENSG00000169919","omim":"611499","loci":["7q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Europe","status":"Validated","source":"European Medicines Agency 2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Brazil","status":"Validated","source":"31926052[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Japan","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.038,"area":"Switzerland","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.047,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Czech Republic","status":"Validated","source":"25060283[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.007,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.027,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"Canada","status":"Validated","source":"28595941[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004607","label":"Anterior beaking of lower thoracic vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008430","label":"Anterior beaking of lumbar vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","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:0005019","label":"Diaphyseal thickening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010655","label":"Epiphyseal stippling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008155","label":"Mucopolysacchariduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null}]}}