DCHS1
Chr 11ADARdachsous cadherin-related 1
Also known as: CDH25, CDHR6, FIB1, MMVP2, MVP2, PCDH16, VMLDS1
DCHS1 encodes a calcium-dependent cell adhesion protein that regulates neuroprogenitor cell proliferation and differentiation, and is critical for proper mitral valve morphogenesis by controlling cell migration during valve formation. Mutations cause Van Maldergem syndrome 1 and mitral valve prolapse 2, with both autosomal dominant and autosomal recessive inheritance patterns reported. This gene is highly constrained against loss-of-function variants, indicating that such variants are likely to be pathogenic.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DCHS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools