{"orpha":293150,"name":"Familial clubfoot due to PITX1 point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hereditary clubfoot due to PITX1 point mutation"],"definition":null,"note":"This disease is described under Familial clubfoot with or without associated lower limb anomalies","url":"https://raremap.alftech.space/d/ORPHA-293150/","orphanet_url":"https://www.orpha.net/en/disease/detail/293150","names":{"fr":{"name":"Pied bot familial dû à une mutation ponctuelle de PITX1","synonyms":["Pied bot héréditaire dû à une mutation ponctuelle PITX1"]},"de":{"name":"Klumpfuß, familiärer, durch Punktmutation im PITX1-Gen","synonyms":["Klumpfuß, hereditärer, durch Punktmutation im PITX1-Gen"]},"es":{"name":"Pie zambo por una mutación puntual en el gen PITX1","synonyms":["Pie zambo hereditario por una mutación puntual en el gen PITX1"]},"it":{"name":"Piede torto familiare da mutazione puntiforme di PITX1","synonyms":["Piede torto ereditario da mutazione puntiforme di PITX1"]},"nl":{"name":"Familiale klompvoet door PITX1-puntmutatie","synonyms":["Erfelijke horrelvoet door PITX1 puntmutatie"]},"pt":{"name":"Pé boto familiar por mutação pontual em PITX1","synonyms":["Pé boto hereditário por mutação pontual em PITX1"]},"pl":{"name":"Rodzinna stopa końsko-szpotawa z powodu mutacji punktowej PITX1","synonyms":["Dziedziczna stopa końsko-szpotawa z powodu mutacji punktowej PITX1"]},"cs":{"name":"Familiární pes equinovarus způsobený bodovými mutacemi PITX1 genu","synonyms":["Dědičný pes equinovarus congenitus způsobený bodovými mutacemi PITX1"]},"uk":{"name":"Сімейна клишоногість внаслідок точкової мутації PITX1","synonyms":["Спадкова клишоногість внаслідок мутації точки PITX1"]},"zh":{"name":"PITX1点突变所致家族性马蹄内翻足","synonyms":["PITX1基因点突变所致家族性马蹄内翻足"]},"tr":{"name":"PITX1 nokta mutasyonu kaynaklı ailesel çarpık ayak","synonyms":["PITX1 nokta mutasyonuna bağlı kalıtsal çarpık ayak"]}},"xrefs":[{"source":"OMIM","code":"119800","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB98.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017383","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679943","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":199315,"name":"Familial clubfoot with or without associated lower limb anomalies","classifications":[147,156,199]},{"orpha":93455,"name":"Patellar dysostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"PITX1","name":"paired like homeodomain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18950742[PMID]","hgnc":"9004","ensembl":"ENSG00000069011","omim":"602149","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}