Features include always present findings: Carpal osteolysis, Generalized osteoporosis, Coarse facial features, and Excessive outward curvature of the upper spine (kyphosis) and others; and common findings: Hirsutism. 11 total HPO annotations.

MMP14 encodes matrix metallopeptidase 14 (582 aa). Endopeptidase that degrades various components of the extracellular matrix such as collagen. Highest expression in Cells Cultured fibroblasts (620.2 TPM) and Cervix Endocervix (354.5 TPM).

Winchester syndrome is associated with mutations in the MMP14 gene on chromosome 14.

The MMP14 protein participates in Elastin degradation by MMP14, Fibrillin-1 degradation by MMP14, and Fibronectin degradation by MMP14 pathways.

MMP14 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 1.2.

Genetic testing for MMP14 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Winchester syndrome has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 1 common feature.

No clinical trials have been registered for Winchester syndrome.

104 publications have been identified in PubMed for Winchester syndrome. Kisho has analyzed 72 by research type. Research spans Review / Meta-Analysis (42%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (13%).