{"orpha":93308,"name":"Multiple epiphyseal dysplasia type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EDM1","MED1","Polyepiphyseal dysplasia type 1"],"definition":"Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93308/","orphanet_url":"https://www.orpha.net/en/disease/detail/93308","names":{"fr":{"name":"Dysplasie épiphysaire multiple type 1","synonyms":["Dysplasie polyépiphysaire type 1"],"definition":"La dysplasie épiphysaire multiple type 1 est une forme de dysplasie épiphysaire multiple caractérisée par une taille normale ou légèrement réduite, une douleur au niveau de la hanche et/ou des genoux, une déformation progressive des extrémités et une ostéoarthrose précoce. Les caractéristiques spécifiques de la maladie incluent une atteinte plus prononcée des articulations de la hanche, un trouble de la marche plus sévère et une taille adulte plus réduite. La maladie est allélique de la pseudo-achondrodysplasie avec laquelle elle partage des signes cliniques et radiologiques. Elle suit un mode de transmission autosomique dominant."},"de":{"name":"Dysplasie, epiphysäre multiple, Typ 1","synonyms":["EDM1","MED1"]},"es":{"name":"Displasia epifisaria múltiple tipo 1","synonyms":["Displasia poliepifisaria tipo 1","EDM1","MED1"],"definition":"Es una forma de displasia epifisaria múltiple caracterizada por talla normal o ligeramente baja, dolor en las caderas y/o rodillas, deformación progresiva de las extremidades y osteoartrosis de inicio precoz. Los hallazgos específicos incluyen una afectación más pronunciada de las articulaciones de la cadera y anomalías de la marcha, y una talla más baja en adultos. Esta displasia es alélica con la pseudoacondroplasia, con la que comparte características clínicas y radiológicas. La enfermedad sigue un patrón de transmisión autosómico dominante."},"it":{"name":"Displasia epifisaria multipla, tipo 1","synonyms":["Displasia poliepifisaria, tipo 1","EDM1","MED1"],"definition":"La displasia epifisaria multipla tipo 1 (MED1) è una forma di displasia epifisaria multipla caratterizzata da statura normale o leggermente bassa, dolore alle anche e/o alle ginocchia, deformità progressiva delle estremità e osteoartrosi ad esordio precoce. I segni peculiari della MED1 comprendono un interessamento prevalente delle articolazioni dell'anca, anomalie della deambulazione ed una statura adulta inferiore alla norma. La MED1 è allelica alla pseudoacondrodisplasia, con cui condivide alcuni segni clinici e radiologici. La malattia ha una trasmissione autosomica dominante."},"nl":{"name":"Multipele epifysaire dysplasie type 1","synonyms":["EDM1","MED1","Meervoudige epifysaire dysplasie type 1","Polyepifysaire dysplasie type 1"],"definition":"Multipele epifysaire dysplasie type 1 (MED1) is een vorm van multipele epifysaire dysplasie die gekarakteriseerd wordt door een normale of milde kleine gestalte, pijn in de heupen en/of knieën, progressieve misvorming van ledematen en vroeg aanvangende osteoartrose. Specifieke kenmerken van MED1 zijn onder meer een meer uitgesproken betrokkenheid van de heupgewrichten en gangstoornis en een kortere volwassen lengte. MED1 is allelisch met pseudoachondroplasie waarmee het klinische en radiologische kenmerken deelt. De ziekte wordt overgeërfd op een autosomaal dominante manier."},"pt":{"name":"Displasia epifisária múltipla, tipo 1"},"pl":{"name":"Dysplazja wielonasadowa typu 1","synonyms":["Dysplazja wielonasadowa typu 1","EDM1","MED1"]},"cs":{"name":"Mnohočetná epifyzární dysplázie, typ 1","synonyms":["EDM1","MED1","Polyepifyzární dysplázie, typ 1"]},"uk":{"name":"Множинна епіфізарна дисплазія, тип 1","synonyms":["EDM1","MED1","Поліепіфізарна дисплазія типу 1"],"definition":"Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission."},"zh":{"name":"多发性骨骺发育不良1型","synonyms":["多发性骨骺发育不良1型"],"definition":"多发性骨骺发育不良1型（MED1）是多发性骨骺发育不良的一种，其特征是身材正常或轻度矮小、髋部和/或膝盖疼痛、四肢进行性畸形和早发性骨关节病。MED1的特点包括髋关节显著受累、步态异常以及成人期身高较矮。MED1与假性软骨发育不全在同一等位基因上，并具有相同的临床和放射学特征。该病遵循常染色体显性遗传。"},"tr":{"name":"Çoklu epifizyal displazi tip 1","synonyms":["EDM1","MED1","Poliepifizyal displazi tip 1"]}},"xrefs":[{"source":"OMIM","code":"132400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2130489957"},{"source":"MONDO","code":"0007561","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535501","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838280","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2180","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":251,"name":"Multiple epiphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"COMP","name":"cartilage oligomeric matrix protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301302[PMID]","hgnc":"2227","ensembl":"ENSG00000105664","omim":"600310","loci":["19p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18328978[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-14","source":"32633442[PMID]_20301302[PMID]_29530484[PMID]","terms":[{"hpo":"HP:0003365","label":"Arthralgia of the hip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030839","label":"Knee pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030973","label":"Postexertional malaise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003170","label":"Abnormality of the acetabulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030840","label":"Ankle pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006094","label":"Finger joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045086","label":"Knee joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Excluded (0%)","criteria":null}]}}