{"orpha":646113,"name":"Intermediate collagen VI-related muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Intermediate COL6-RD"],"definition":"A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-646113/","orphanet_url":"https://www.orpha.net/en/disease/detail/646113","names":{"fr":{"name":"Dystrophie musculaire congénitale liée au collagène de type VI, forme intermédiaire","synonyms":["Dystrophie intermédiaire liée au collagène de type VI"],"definition":"Forme de dystrophie musculaire congénitale caractérisée par une faiblesse congénitale, une hypotonie, des contractures des articulations proximales, une hyperlaxité marquée des articulations distales, l'acquisition de la marche (ensuite perdue) et une insuffisance respiratoire uniforme à l'adolescence."},"de":{"name":"Intermediäre Kollagen Typ VI-assoziierte Muskeldystrophie","definition":"Eine Form der angeborenen Muskeldystrophie, die durch angeborene Schwäche, Hypotonie, proximale Gelenkkontrakturen, ausgeprägte Hyperlaxität der distalen Gelenke, Erreichen einer selbstständigen Gehfähigkeit, die später wieder verloren geht, und eine gleichmäßige Ateminsuffizienz im Teenageralter gekennzeichnet ist."},"es":{"name":"Distrofia muscular intermedia asociada al colágeno VI","synonyms":["COL6-RD intermedia"],"definition":"Es una forma de distrofia muscular congénita caracterizada por debilidad, hipotonía, contracturas de las articulaciones proximales, marcada hiperlaxitud de las articulaciones distales, logro de una deambulación independiente que posteriormente se pierde e insuficiencia respiratoria durante la adolescencia."},"it":{"name":"Distrofia muscolare intermedia correlata al collagene tipo VI","synonyms":["COL6-RD intermedia"]},"nl":{"name":"Intermediaire collageen VI-gerelateerde spierdystrofie","synonyms":["Intermediaire COL6-RD"],"definition":"Een vorm van congenitale spierdystrofie, gekenmerkt door congenitale zwakte, hypotonie, proximale gewrichtscontracturen, opmerkelijke hyperlaxiteit van distale gewrichten, bereiken van onafhankelijk loopvermogen dat vervolgens verloren gaat, en uniforme respiratoire insufficiëntie in de tienerjaren."},"pt":{"name":"Distrofia muscular colagénio VI-relacionada intermédia","synonyms":["COL6-RD intermédia"],"definition":"Forma de distrofia muscular congénita caracterizada por fraqueza congénita, hipotonia, contraturas articulares proximais, hipermobilidade acentuada das articulações distais, obtenção de deambulação independente que é posteriormente perdida e insuficiência respiratória uniforme durante a adolescência."},"pl":{"name":"Pośrednia dystrofia mięśniowa związana z kolagenem VI","synonyms":["Intermediate COL6-RD"]},"cs":{"name":"Střední svalová dystrofie související s kolagenem VI","synonyms":["Intermediate COL6-RD"]},"uk":{"name":"Помірно виражена мязова дистрофія, повязана з колагеном VI","synonyms":["Проміжний COL6-RD"],"definition":"A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years."}},"xrefs":[{"source":"OMIM","code":"158810","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"254090","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958353","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958353","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816698","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":646098,"name":"Collagen VI-related congenital muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COL6A1","name":"collagen type VI alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21496625[PMID]","hgnc":"2211","ensembl":"ENSG00000142156","omim":"120220","loci":["21q22.3"]},{"symbol":"COL6A2","name":"collagen type VI alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301676[PMID]","hgnc":"2212","ensembl":"ENSG00000142173","omim":"120240","loci":["21q22.3"]},{"symbol":"COL6A3","name":"collagen type VI alpha 3 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24271325[PMID]","hgnc":"2213","ensembl":"ENSG00000163359","omim":"120250","loci":["2q37.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}