Collagen VI deficiency (Q103663): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||||||||||||||
| (One intermediate revision by the same user not shown) | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
16 August 2026
| |||||||||||||||
| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest 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 |
||
| 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. |
Statements
CID11:ID_321945903
0 references
dki-india-ID_321945903
0 references
Concluído
0 references
16 August 2026
0 references
