{"orpha":85169,"name":"Familial digital arthropathy-brachydactyly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85169/","orphanet_url":"https://www.orpha.net/en/disease/detail/85169","names":{"fr":{"name":"Syndrome d'arthropathie digitale-brachydactylie familiale","definition":"Le syndrome d'arthropathie digitale-brachydactylie familiale est caractérisé par l'association d'une arthropathie des articulations interphalangiennes, métacarpophalangiennes, et métatarsophalangiennes avec une brachydactylie des phalanges médianes et distales. Il a été décrit chez de nombreux patients appartenant à cinq générations d'une grande famille. Ce syndrome se transmet sur le mode autosomique dominant."},"de":{"name":"Familiäre digitale Arthropathie mit Brachydaktylie","definition":"Dieses Syndrom ist gekennzeichnet durch Arthropathie der interphalangealen, metakarpo-phalangealen und metatarso-phalangealen Gelenke und Brachyphalangie der Mittel- und Endphalangen."},"es":{"name":"Artropatía digital-braquidactilia familiar","definition":"Es un trastorno caracterizado por la asociación de artropatía de las articulaciones interfalángicas, metacarpofalángicas y metatarsofalángicas con braquidactilia de las falanges media y distal. Se ha descrito en varios miembros de cinco generaciones de una familia numerosa. La herencia es autosómica dominante."},"it":{"name":"Artropatia digitale - brachidattilia familiare"},"nl":{"name":"Familiale digitale artropathie-brachydactylie","definition":"Familiale digitale artropathie-brachydactylie wordt gekenmerkt door de associatie van artropathie van interfalangeale, metacarpofalangeale en metatarsofalangeale gewrichten met brachydactylie van middelste en distale falangen. Het werd beschreven bij vele leden uit vijf generaties van één grote familie. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Artropatia digital-braquidactilia familiar"},"pl":{"name":"Rodzinna artropatia-brachydaktylia palców"},"cs":{"name":"Familiární digitální artropatie a brachydaktylie"},"uk":{"name":"Сімейна пальцева артропатія-брахідактилія","definition":"Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant."},"zh":{"name":"家族性指关节病-短指畸形"},"tr":{"name":"ailesel dijital artropati-brakidaktili"}},"xrefs":[{"source":"OMIM","code":"606835","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M06.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"712379319"},{"source":"MONDO","code":"0011732","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564656","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847406","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498451,"name":"Dysostosis with brachydactyly without extraskeletal manifestations","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) (loss of function) in","status":"Assessed","source":"21964574[PMID]_24830047[PMID]","hgnc":"18083","ensembl":"ENSG00000111199","omim":"605427","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004268","label":"Osteoarthritis of the small joints of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005793","label":"Shortening of all distal phalanges of the toes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006239","label":"Shortening of all middle phalanges of the toes","frequency":"Very frequent (99-80%)","criteria":null}]}}