{"entities":{"Q103663":{"pageid":94061,"ns":120,"title":"Item:Q103663","lastrevid":596395,"modified":"2026-08-17T09:25:19Z","type":"item","id":"Q103663","labels":{"mul":{"language":"mul","value":"ID_321945903"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de col\u00e1geno VI"},"en":{"language":"en","value":"Collagen VI deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Condi\u00e7\u00e3o caracterizada pela defici\u00eancia de col\u00e1geno VI, uma prote\u00edna da matriz extracelular que forma uma rede microfibrilar na camada reticular da membrana basal e que tem como fun\u00e7\u00e3o ancorar a membrana basal ao tecido conjuntivo subjacente. Causada por muta\u00e7\u00f5es autoss\u00f4micas dominantes ou recessivas nas tr\u00eas principais cadeias \u03b1 do col\u00e1geno tipo VI (COL6A1, COL6A2 e COL6A3). Apresenta-se com hipotonia de in\u00edcio precoce, fraqueza e contraturas dos cotovelos, tornozelos e articula\u00e7\u00f5es interfal\u00e2ngicas dos dedos."},"en":{"language":"en","value":"Condition characterized by deficiency of collagen VI, an extracellular matrix protein that forms a microfibrillar network in the reticular layer of the basement membrane and functions to anchor the basement membrane to the underlying connective tissue. Caused by autosomal dominant or recessive mutations in the three major \u03b1-chains of collagen type VI (COL6A1, COL6A2, and COL6A3). Presents with early onset hypotonia, weakness, and contractures of the elbows, ankles, interphalangeal joints of the fingers."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"43ed8298335d2b28e352a903a58de0cd4f351d28","datavalue":{"value":"https://id.who.int/icd/entity/321945903","type":"string"},"datatype":"url"},"type":"statement","id":"Q103663$35F1A914-7A90-4877-A13C-5E366992B5B5","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"8a8c0cf9fcb62f33ddbba2a000283bd3e6041381","datavalue":{"value":"CID11:ID_321945903","type":"string"},"datatype":"string"},"type":"statement","id":"Q103663$48993767-262D-4434-8682-F2D7E3859C2E","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"11f8b26fec04a44326689c434c792f106b81dbf9","datavalue":{"value":"dki-india-ID_321945903","type":"string"},"datatype":"string"},"type":"statement","id":"Q103663$E98461DE-A87F-46F9-B15F-BE1D78C3EBC4","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q103663$44C458E4-F507-4AE9-A333-CFF6342DCB6D","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q103663$9BDD0AA7-C9BE-445E-BE72-939C92FF1779","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"8612011b2ca718e4ec0db5a49d2de6d25b2e811c","datavalue":{"value":{"time":"+2026-08-16T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q103663$85A062A3-41E9-42E6-B28C-695854498DF0","rank":"normal"}]},"sitelinks":{}}}}