Features include always present findings: Joint hypermobility, Atrophic scars, and Soft skin; and very common findings: Subcutaneous spheroids and Molluscoid pseudotumors. 18 total HPO annotations.

COL5A2 encodes collagen type V alpha 2 chain (1,499 aa). Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Highest expression in Cells Cultured fibroblasts (346.0 TPM) and Cervix Ectocervix (143.9 TPM).

Ehlers-Danlos syndrome, classic type, 2 is associated with mutations in the COL5A2 gene on chromosome 2.

The COL5A2 protein participates in Collagen type V degradation by MMP2,9,10 pathway.

COL5A2 is classified as a druggable target (Druggable Genome category) with score 0.9.

Genetic testing for COL5A2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 2 very common features, 3 common features.

No clinical trials have been registered for Ehlers-Danlos syndrome, classic type, 2.

1 publication has been identified in PubMed for Ehlers-Danlos syndrome, classic type, 2. Research spans Review / Meta-Analysis (100%).

Recent Publications

• Galante N (2024). [PMID: 39008115](https://pubmed.ncbi.nlm.nih.gov/39008115/). *Int J Legal Med*. [Review / Meta-Analysis]