{"orpha":93304,"name":"Autosomal dominant brachyolmia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Brachyolmia type 3"],"definition":"A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93304/","orphanet_url":"https://www.orpha.net/en/disease/detail/93304","names":{"fr":{"name":"Brachyolmie autosomique dominante","synonyms":["Brachyolmie type 3"],"definition":"Forme relativement sévère de brachyolmie, groupe de maladies squelettiques rares d'origine génétique, caractérisées par une petite taille, une platyspondylie et une cyphoscoliose. La maladie dégénérative des articulations (ostéoarthropathie) de la colonne vertébrale, des grosses articulations et des articulations interphalangiennes se manifeste à l'âge adulte."},"de":{"name":"Brachyolmie Typ 3"},"es":{"name":"Braquiolmia autosómica dominante","synonyms":["Braquiolmia tipo 3"],"definition":"Es una forma relativamente grave de braquiolmia, un grupo de trastornos esqueléticos poco frecuente de origen genético caracterizado por talla baja de tronco corto, platispondilia y cifoescoliosis. En la edad adulta se hace manifiesta la enfermedad articular degenerativa (osteoartropatía) en la columna vertebral, grandes articulaciones y articulaciones interfalángicas."},"it":{"name":"Brachiolmia autosomica dominante","synonyms":["Brachiolmia tipo 3"],"definition":"La brachiolmia autosomica dominante è una forma relativamente grave di brachiolmia, un gruppo di malattie scheletriche genetiche rare, caratterizzate da bassa statura con tronco corto, platispondilia e cifoscoliosi. Nell'età adulta i pazienti sviluppano una malattia articolare degenerativa (osteoartropatia) che interessa la colonna, le grandi articolazioni e le articolazioni interfalangee."},"nl":{"name":"Autosomaal dominante brachyolmie","synonyms":["Brachyolmie type 3"],"definition":"Een relatief ernstige vorm van brachyolmie, een groep van zeldzame genetische aandoeningen van skelet, gekarakteriseerd door kleine gestalte met korte romp, platyspondylie en kyfoscoliose. Degeneratieve gewrichtsziekte (osteoartropathie) in ruggengraat, grote gewrichten en interfalangeale gewrichten manifesteert zich in de volwassenheid."},"pt":{"name":"Braquiolmia autossómica dominante"},"pl":{"name":"Autosomalna dominująca brachyolmia","synonyms":["Brachyolmia typu 3"]},"cs":{"name":"Autozomálně dominantní brachyolmie","synonyms":["Brachyolmie, typ 3"]},"uk":{"name":"Аутосомно-домінантна брахіолмія","synonyms":["Брахіолмія типу 3"],"definition":"A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood."},"zh":{"name":"常染色体显性短躯干症","synonyms":["短躯干症3型"],"definition":"短躯干症中一种相对严重的类型，是一组罕见的遗传性骨骼疾病，其特征是躯干短/身材矮小、扁平椎骨和脊柱后凸畸形。脊柱、大关节和指间关节的退行性关节病（骨关节病）在成年后显现。"},"tr":{"name":"Otozomal dominant brakiyolmi","synonyms":["Brakiyolmi tip 3"]}},"xrefs":[{"source":"OMIM","code":"113500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q76.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"589025803"},{"source":"MONDO","code":"0007232","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562963","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432227","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10429","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":1293,"name":"Brachyolmia","classifications":[147,156,199]},{"orpha":364820,"name":"TRPV4-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"TRPV4","name":"transient receptor potential cation channel subfamily V member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"18587396[PMID]_24830047[PMID]","hgnc":"18083","ensembl":"ENSG00000111199","omim":"605427","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004570","label":"Increased vertebral height","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Occasional (29-5%)","criteria":null}]}}