{"orpha":1146,"name":"Distal arthrogryposis type 1","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DA1","Digitotalar dysmorphism"],"definition":"A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1146/","orphanet_url":"https://www.orpha.net/en/disease/detail/1146","names":{"fr":{"name":"Arthrogrypose distale type 1","synonyms":["Arthrogrypose distale type I","Dysmorphie digito-astragalienne"],"definition":"Forme d'arthrogrypose caractérisée par des contractures des régions distales des mains et des pieds, en l'absence d'une maladie neurologique et/ou musculaire primaire affectant le fonctionnement des membres. Une petite bouche et une limitation de l'ouverture buccale sont les seuls signes de la dysmorphie faciale. Aucune autre anomalie n'est rapportée."},"de":{"name":"Arthrogrypose, distale, Typ 1","synonyms":["DA1","Dysmorphien, digitotalare"],"definition":"Eine Form der Arthrogrypose, die durch Kontrakturen der distalen Regionen der Hände und Füße gekennzeichnet ist, ohne dass eine primäre neurologische und/oder Muskelerkrankung vorliegt, die die Funktion der Gliedmaßen beeinträchtigt. Die Beteiligung des Gesichts beschränkt sich auf einen kleinen Mund und eine eingeschränkte Mundöffnung. Es werden keine zusätzlichen Anomalien berichtet."},"es":{"name":"Artrogriposis distal tipo 1","synonyms":["DA1","Dismorfia digitotalar"],"definition":"Es una forma de artrogriposis caracterizada por contracturas de las regiones distales de las manos y los pies en ausencia de enfermedad neurológica y/o muscular primaria que afecte a la funcionalidad de las extremidades. La afectación facial se restringe a una boca pequeña y a una limitación de la apertura bucal. No se hanm descrito otras anomalías adicionales."},"it":{"name":"Artrogriposi distale, tipo 1","synonyms":["Artrogriposi distale, tipo 1","DA1","Dismorfismo digitotalare"],"definition":"L'artrogriposi distale tipo 1 (DA1) è una forma di artrogriposi caratterizzata da contratture della porzione distale delle mani e dei piedi, in assenza di una malattia neurologica e/o muscolare primaria che colpisca la funzionalità degli arti. Gli unici dismorfismi facciali sono la bocca piccola e la limitazione della sua apertura. Non si osservano altre anomalie."},"nl":{"name":"Distale artrogrypose type 1","synonyms":["DA1","Digito-talaire dysmorfie"],"definition":"Een vorm van artrogrypose, gekarakteriseerd door contracturen van distale delen van handen en voeten in afwezigheid van een primaire neurologische en/of musculaire aandoening die de functie van ledematen aantast. Betrokkenheid van aangezicht blijft beperkt tot kleine mond en moeite met het openen van de mond. Er werden geen bijkomende anomalieën gerapporteerd."},"pt":{"name":"Artrogripose distal tipo 1","synonyms":["AD1","Artrogripose distal tipo I","Dismorfismo digitotalar"]},"pl":{"name":"Artrogrypoza dystalna typu 1","synonyms":["Artrogrypoza dystalna typu 1"]},"cs":{"name":"Distální artrogrypóza, typ I","synonyms":["DA1","DA1A","Digitotalární dysmofismus"]},"uk":{"name":"Дистальний артрогрипоз, тип 1","synonyms":["DA1","Дизморфізм дигітоталарального апарату"],"definition":"A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported."},"zh":{"name":"远端关节挛缩1型","synonyms":["远端关节弯曲1型"]},"tr":{"name":"Dijitotalar dismorfizm","synonyms":["DA1","DA1A","Distal artrogripozis tip 1"]}},"xrefs":[{"source":"OMIM","code":"108120","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"126050","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614335","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618435","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619110","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1679749810"},{"source":"MONDO","code":"0015240","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535378","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220662","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"787","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98738,"name":"Neurological muscular channelopathy due to a genetic sodium channel defect","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MYBPC1","name":"myosin binding protein C1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20045868[PMID]","hgnc":"7549","ensembl":"ENSG00000196091","omim":"160794","loci":["12q23.2"]},{"symbol":"MYH3","name":"myosin heavy chain 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23401156[PMID]","hgnc":"7573","ensembl":"ENSG00000109063","omim":"160720","loci":["17p13.1"]},{"symbol":"NALCN","name":"sodium leak channel, non-selective","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25683120[PMID]","hgnc":"19082","ensembl":"ENSG00000102452","omim":"611549","loci":["13q32.3-q33.1"]},{"symbol":"TNNI2","name":"troponin I2, fast skeletal type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23401156[PMID]","hgnc":"11946","ensembl":"ENSG00000130598","omim":"191043","loci":["11p15.5"]},{"symbol":"TNNT3","name":"troponin T3, fast skeletal type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23401156[PMID]","hgnc":"11950","ensembl":"ENSG00000130595","omim":"600692","loci":["11p15.5"]},{"symbol":"TPM2","name":"tropomyosin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23401156[PMID]","hgnc":"12011","ensembl":"ENSG00000198467","omim":"190990","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","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:0001181","label":"Adducted thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010557","label":"Overlapping fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null}]}}