{"orpha":93279,"name":"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93279/","orphanet_url":"https://www.orpha.net/en/disease/detail/93279","names":{"fr":{"name":"Arthrose précoce avec dysplasie spondyloépiphysaire intermédiaire due à une mutation du gène COL2A1","definition":"L'arthrose précoce avec dysplasie spondyloépiphysaire intermédiaire due à une mutation du gène COL2A1 est une maladie osseuse liée au collagène de type 2 caractérisée par une ostéoarthrite généralisée précoce (qui peut survenir dès l'enfance) et de légers changements dysplasiques spinaux (aplatissement des vertèbres, plateaux vertébraux irréguliers, déformations en forme de coin), ce qui conduit à un tronc légèrement court."},"de":{"name":"Milde spondyloepiphysäre Dysplasie durch COL2A1-Genmutation mit früh beginnender Osteoarthritis","definition":"Eine Kollagen Typ 2-abhängige Knochenkrankheit, die durch eine frühe, generalisierte Osteoarthritis (mit Beginn bereits im Kindesalter) und milde, dysplastische Wirbelsäulenveränderungen (Abflachung der Wirbel, unregelmäßige Endplatten und keilförmige Deformitäten) gekennzeichnet ist und zu einem leicht verkürzten Rumpf führt."},"es":{"name":"Osteoartritis de inicio precoz con displasia espondiloepifisaria leve por una mutación en el gen COL2A1","definition":"La displasia espondiloepifiseal leve con osteoartritis de inicio temprano por mutaciones en el gen COL2A1 es un trastorno óseo relacionado con el colágeno tipo 2 caracterizado por osteoartritis precoz generalizada (con inicio tan temprano como la infancia) y leves cambios displásicos espinales (aplanamiento de vértebras, placas terminales irregulares y deformidades en forma de cuña) que resultan en un tronco ligeramente acortado."},"it":{"name":"Osteoartrite a esordio precoce con lieve displasia spondiloepifisaria da mutazioni di COL2A1","definition":"La displasia spondilo-epifisaria lieve da mutazione di COL2A1 con osteoartrite ad esordio precoce è una malattia scheletrica da anomalie del collagene tipo 2; è caratterizzata da osteoartrite generalizzata precoce ad esordio infantile e da alterazioni displastiche spinali lievi (appiattimento delle vertebre, con irregolarità dei piatti vertebrali e deformità cuneiformi) che esitano in un tronco leggermente corto."},"nl":{"name":"Milde spondylo-epifysaire dysplasie als gevolg van COL2A1-mutatie met vroege-aanvang osteoartritis","definition":"Milde spondylo-epifysaire dysplasie als gevolg van COL2A1-mutatie met vroeg aanvangende osteoartritis is een type 2 collageen-gerelateerde botstoornis die gekarakteriseerd wordt door vroegtijdige gegeneraliseerde osteoartritis (met aanvang reeds in de kindertijd) en milde, dysplastische veranderingen aan de wervelkolom (afvlakking van de wervels, onregelmatige eindplaten en wigvormige misvormingen) met een enigszins korte romp tot gevolg."},"pt":{"name":"Displasia espondiloepifisária ligeira por mutação no COL2A1 com osteoartrite de início precoce"},"pl":{"name":"Łagodna dysplazja kręgowo-nasadowa spowodowana mutacją COL2A1 z zapaleniem kostno-stawowym o wczesnym początku"},"cs":{"name":"Lehká spondyloepifyzární dysplázie na podkladě mutace COL2A1 s časnou osteoartrózou"},"uk":{"name":"Легка спондилоепіфізарна дисплазія внаслідок мутації COL2A1 з раннім початком остеоартрозу","definition":"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk."},"zh":{"name":"COL2A1变异伴早发性关节炎所致轻度脊椎骨骺发育不良","definition":"COL2A1突变所致脊椎骨骺发育不良伴早发性骨关节炎是一种2型胶原相关的骨病，其特征是早发性全身性骨关节炎（在儿童时期发病）和轻度、发育不良性的脊柱改变（椎骨变平、终板不规则和楔形畸形），脊柱改变会导致躯干轻度偏短。"},"tr":{"name":"Erken başlangıçlı osteoartrit ile seyreden COL2A1 mutasyonuna bağlı hafif spondiloepifizyal displazi"}},"xrefs":[{"source":"OMIM","code":"604864","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"690266690"},{"source":"MONDO","code":"0011496","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275063","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1975693[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"7757086[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7757086[PMID]"}],"phenotypes":null}