Features include always present findings: Absent distal interphalangeal creases, Tapered distal phalanges of finger, Hand muscle atrophy, and Clinodactyly of the 5th finger and others; and very common findings: Achilles tendon contracture, Knee flexion contracture, Ankle flexion contracture, and Thoracic kyphosis and others. 27 total HPO annotations.

ADAMTS15 encodes ADAM metallopeptidase with thrombospondin type 1 motif 15 (950 aa). Metalloprotease which has proteolytic activity against the proteoglycan VCAN, cleaving it at the 'Glu-1428-|-1429-Ala' site. Highest expression in Adipose Visceral Omentum (31.0 TPM) and Breast Mammary Tissue (26.8 TPM).

Arthrogryposis, distal, type 12 is associated with mutations in the ADAMTS15 gene on chromosome 11.

ADAMTS15 is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, and Protease categories) with score 0.0.

10 pathogenic variants reported in ADAMTS15 in ClinVar.

Genetic testing for ADAMTS15 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 5 very common features, 9 common features.

No clinical trials have been registered for arthrogryposis, distal, type 12.

1 publication has been identified in PubMed for arthrogryposis, distal, type 12. Research spans Review / Meta-Analysis (100%).

Recent Publications

• Illés A (2024). [PMID: 39062310](https://pubmed.ncbi.nlm.nih.gov/39062310/). *Children (Basel)*. [Review / Meta-Analysis]