{"orpha":67041,"name":"Hyaluronidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MPS9","MPSIX","Mucopolysaccharidosis type 9","Mucopolysaccharidosis type IX"],"definition":"A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and dysmorphic craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-67041/","orphanet_url":"https://www.orpha.net/en/disease/detail/67041","names":{"fr":{"name":"Déficit en hyaluronidase","synonyms":["MPS9","MPSIX","Mucopolysaccharidose type 9","Mucopolysaccharidose type IX"],"definition":"Forme rare de mucopolysaccharidose caractérisée par un stockage anormal de l'hyaluronane dans les lysosomes dû à une déficience en hyaluronidase 1. Les signes cliniques sont des douleurs du genou et/ou de la hanche associées à un oedème, une atteinte articulaire diffuse avec une synovite proliférative et la présence de multiples masses de tissus mous périarticulaires, une petite taille et une dysmorphie faciale (à savoir, un pont nasal aplati, une luette bifide et une fente palatine)."},"de":{"name":"Hyaluronidasemangel","synonyms":["MPS9","MPSIX","Mukopolysaccharidose Typ 9","Mukopolysaccharidose Typ IX"],"definition":"Eine seltene Form der Mukopolysaccharidose, die durch eine abnorme Speicherung von Hyaluronan in Lysosomen aufgrund eines Mangels an Hyaluronidase 1 gekennzeichnet ist. Zu den klinischen Manifestationen gehören Knie- und/oder Hüftschmerzen in Verbindung mit Schwellungen, diffuser Gelenkbeteiligung mit proliferativer Synovitis und dem Auftreten multipler periartikulärer Gewebeverdichtungen, Kleinwuchs und dysmorphe kraniofaziale Merkmale (wie abgeflachter Nasenrücken, bifides Zäpfchen und Gaumenspalte)."},"es":{"name":"Deficiencia de hialuronidasa","synonyms":["MPS9","MPSIX","Mucopolisacaridosis tipo 9","Mucopolisacaridosis tipo IX"],"definition":"Es una forma poco frecuente de mucopolisacaridosis caracterizada por un trastorno de depósito lisosomal de ácido hialurónico debido a la deficiencia de hialuronidasa 1. Las manifestaciones clínicas incluyen dolor de rodilla y/o cadera acompañado de hinchazón, afectación articular difusa con sinovitis proliferativa y desarrollo de múltiples masas periarticulares de tejidos blandos, talla baja y características craneofaciales dismórficas (como aplanamiento del puente nasal, úvula bífida y paladar hendido)."},"it":{"name":"Deficit di ialuronidasi","synonyms":["MPS9","MPSIX","Mucopolisaccaridosi, tipo 9","Mucopolisaccaridosi, tipo IX"],"definition":"Si tratta di una forma rara di mucopolisaccaridosi, caratterizzata da un accumulo anomalo di acido ialuronico nei lisosomi causato da un deficit di ialuronidasi 1. I segni clinici comprendono il dolore al ginocchio e/o all'anca associato al gonfiore, l'interessamento articolare diffuso con sinovite proliferativa e masse multiple periarticolari di tessuto molle, bassa statura e dismorfismi craniofacciali (sella nasale piatta, ugola bifida e palatoschisi)."},"nl":{"name":"Hyaluronidasedeficiëntie","synonyms":["MPS9","MPSIX","Mucopolysacharidose type 9","Mucopolysacharidose type IX"],"definition":"Een zeldzame vorm van mucopolysaccharidose, gekarakteriseerd door abnormale opslag van of hyaluronzuur in lysosomen door deficiëntie van hyaluronidase 1. Klinische manifestaties zijn onder meer knie- en/of heuppijn geassocieerd met zwelling, diffuse betrokkenheid van gewricht met proliferatieve synovitis en voorkomen van multipele periarticulaire massa's van weke delen, kleine gestalte, en dysmorfe craniofaciale kenmerken (zoals platte neusbrug, bifide uvula, en gespleten verhemelte)."},"pt":{"name":"Deficiência de hialuronidase","synonyms":["MPS9","Mucopolissacaridose tipo 9"]},"pl":{"name":"Niedobór hialuronidazy","synonyms":["MPS9","MPSIX","Mukopolisacharydoza typu 9","Mukopolisacharydoza typu IX"]},"cs":{"name":"Deficit hyaluronidázy","synonyms":["MPS9","MPSIX","Mukopolysacharidóza, typ 9","Mukopolysacharidóza IX. typu"]},"uk":{"name":"Дефіцит гіалуронідази","synonyms":["MPS9","MPSIX","Мукополісахаридоз типу 9","Мукополісахаридоз IX типу"],"definition":"A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and dysmorphic craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate)."},"zh":{"name":"透明质酸酶缺乏症","synonyms":["粘多糖贮积症IX型"]},"tr":{"name":"Hyaluronidaz eksikliği","synonyms":["MPS9","MPSIX","Mukopolisakkaridoz tip 9","Mukopolisakkaridoz tip IX"]}},"xrefs":[{"source":"OMIM","code":"601492","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"952591271"},{"source":"MONDO","code":"0011093","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563209","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1291490","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":[],"genes":[{"symbol":"HYAL1","name":"hyaluronidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10339581[PMID]","hgnc":"5320","ensembl":"ENSG00000114378","omim":"607071","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003170","label":"Abnormality of the acetabulum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}