{"orpha":2020,"name":"Congenital fiber-type disproportion myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CFTDM"],"definition":"A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2020/","orphanet_url":"https://www.orpha.net/en/disease/detail/2020","names":{"fr":{"name":"Myopathie congénitale avec disproportion des types de fibres musculaires","definition":"Myopathie congénitale non dystrophique rare, d'origine génétique, caractérisée par une hypotonie et une faiblesse musculaire généralisée légère à sévère à début néonatal ou infantile."},"de":{"name":"Myopathie, kongenitale, mit Fasertyp-Disproportion","synonyms":["CFTDM"],"definition":"Eine seltene genetische, kongenitale, nicht-dystrophe Myopathie, die durch neonatale oder infantile Hypotonie und leichte bis schwere generalisierte Muskelschwäche gekennzeichnet ist."},"es":{"name":"Miopatía congénita por desproporción del tipo de fibra","synonyms":["CFTDM"],"definition":"Es una miopatía congénita no distrófica, genética y poco frecuente, caracterizada por hipotonía neonatal o de inicio en la lactancia y debilidad muscular generalizada de leve a grave."},"it":{"name":"Miopatia con sproporzione congenita delle fibre","definition":"È una miopatia congenita rara non distrofica, di origine genetica, che esordisce nel periodo neonatale o infantile con debolezza muscolare generalizzata da lieve a grave."},"nl":{"name":"Congenitale myopathie met vezeltype-disproportie","synonyms":["CFTDM"],"definition":"Een zeldzame genetische, congenitale, niet-dystrofische myopathie gekarakteriseerd door neonataal of infantiel aanvangende hypotonie en milde tot ernstige gegeneraliseerde spierzwakte."},"pt":{"name":"Miopatia por desproporção de fibras congénita"},"pl":{"name":"Miopatia pod postacią wrodzonej dysproporcji rodzajów włókien","synonyms":["CFTDM"]},"cs":{"name":"Vrozené strukturální myopatie","synonyms":["CFTDM"]},"uk":{"name":"Вроджена міопатія з диспропорцією волокон","synonyms":["CFTDM"],"definition":"A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness."},"zh":{"name":"先天性肌型比例失调肌病","synonyms":["CFTDM"]},"tr":{"name":"Doğumsal fibril-tip orantısızlık miyopatisi","synonyms":["CFTDM"]}},"xrefs":[{"source":"OMIM","code":"255310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300580","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617760","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619967","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C72.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"311083557"},{"source":"MONDO","code":"0009711","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0546264","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6161","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]},{"orpha":209059,"name":"Qualitative or quantitative defects of alpha-actin","classifications":[156]},{"orpha":209193,"name":"Qualitative or quantitative defects of selenoprotein N1","classifications":[156]},{"orpha":284790,"name":"Qualitative or quantitative defects of tropomyosin","classifications":[156]}],"children":[],"genes":[{"symbol":"HACD1","name":"3-hydroxyacyl-CoA dehydratase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23933735[PMID]","hgnc":"9639","ensembl":"ENSG00000165996","omim":"610467","loci":["10p12.33"]},{"symbol":"ACTA1","name":"actin alpha 1, skeletal muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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