Blepharocheilodontic syndrome 1: genes and variants
Blepharocheilodontic syndrome 1 is linked to 1 analyzed protein (CDH1). 1 DNA variants are known to cause it; 33 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Blepharocheilodontic syndrome 1
CDH1: Cadherin-1
Its E-cadherin-mediated adhesion preserves epithelial architecture and suppresses inappropriate cell detachment and invasion. Germline loss-of-function variants cause hereditary diffuse gastric cancer syndrome and substantially increase diffuse gastric and lobular breast-cancer risk.
1 disease-causing and 33 uncertain variants in CDH1 are linked to Blepharocheilodontic syndrome 1.
Known disease-causing variants in Blepharocheilodontic syndrome 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CDH1 D254Y | 254 | Cadherin 1 | Disease-causing |
Same protein, different disease
- CDH1-related diffuse gastric and lobular breast cancer syndrome is also caused by CDH1 variants; they fall mostly in different places as the Blepharocheilodontic syndrome 1 variants (11 disease-causing).
- Hereditary diffuse gastric adenocarcinoma is also caused by CDH1 variants; they fall mostly in different places as the Blepharocheilodontic syndrome 1 variants (4 disease-causing).
Diseases related to Blepharocheilodontic syndrome 1
- Ovarian cancer, also linked to CDH1
- Familial cancer of breast, also linked to CDH1
- Hereditary breast ovarian cancer syndrome, also linked to CDH1
- CDH1-related diffuse gastric and lobular breast cancer syndrome, also linked to CDH1
- Prostate cancer, also linked to CDH1
- Breast and/or ovarian cancer, also linked to CDH1
- Endometrial carcinoma, also linked to CDH1
- Hereditary diffuse gastric adenocarcinoma, also linked to CDH1
Frequently asked questions
Which genes are linked to Blepharocheilodontic syndrome 1?
In CATVariant, Blepharocheilodontic syndrome 1 is linked to 1 analyzed protein: CDH1 (Cadherin-1).
How many genetic variants are linked to Blepharocheilodontic syndrome 1?
34 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 33 are of uncertain significance or have conflicting reports.
Which uncertain variants in Blepharocheilodontic syndrome 1 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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