Collagen VI deficiency (Q103663): Difference between revisions
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Condição caracterizada pela deficiência de colágeno VI, uma proteína da matriz extracelular que forma uma rede microfibrilar na camada reticular da membrana basal e que tem como função ancorar a membrana basal ao tecido conjuntivo subjacente. Causada por mutações autossômicas dominantes ou recessivas nas três principais cadeias α do colágeno tipo VI (COL6A1, COL6A2 e COL6A3). Apresenta-se com hipotonia de início precoce, fraqueza e contraturas dos cotovelos, tornozelos e articulações interfalângicas dos dedos. | |||
| description / en | description / en | ||
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 α-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. | |||
Revision as of 09:25, 17 August 2026
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 α-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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_321945903 |
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| English | Collagen VI deficiency |
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 α-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. |
