{"orpha":664401,"name":"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664401/","orphanet_url":"https://www.orpha.net/en/disease/detail/664401","names":{"fr":{"name":"Syndrome d'anomalies cardiaques-petite taille-hypermobilité articulaire-dysmorphie faciale dû à une mutation de TAB2"},"de":{"name":"Herzanomalien-Kleinwuchs-Gelenkhypermobilität-Gesichtsdysmorphie-Syndrom durch TAB2-Genmutation"},"es":{"name":"Síndrome de anomalías cardíacas-talla baja-hipermovilidad articular-dismorfia facial por mutación en el gen TAB2"},"it":{"name":"Sindrome cardiopatie-bassa statura-ipermobilità articolare-dismorfismi facciali da mutazione di TAB2"},"nl":{"name":"Hartanomalieën - kleine gestalte - gewrichtshypermobiliteit - faciale dysmorfie-syndroom door TAB2-mutatie"},"pt":{"name":"Síndrome de anomalias cardíacas-baixa estatura-hipermobilidade articular-dismorfia facial por a mutação em TAB2"},"pl":{"name":"Zespół z wadami serca, niskim wzrostem, nadmierną ruchomością stawów i dysmorfią twarzy spowodowany mutacją TAB2"},"cs":{"name":"Syndrom způsobený mutací TAB2 zahrnující srdeční anomálie, malý vzrůst, hypermobilitu kloubů a faciální dysmorfii"},"uk":{"name":"Синдром серцевих аномалій- низькорослості-гіпермобільності суглобів-дисморфізму обличчя, зумовлений мутацією TAB2"}},"xrefs":[{"source":"OMIM","code":"614980","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0971094","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925073","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":228410,"name":"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome","classifications":[147,148,156,181]}],"children":[],"genes":[{"symbol":"TAB2","name":"TGF-beta activated kinase 1 (MAP3K7) binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31959127[PMID]","hgnc":"17075","ensembl":"ENSG00000055208","omim":"605101","loci":["6q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}