Congenital diarrhea 5 with tufting enteropathy: genes and variants
Congenital diarrhea 5 with tufting enteropathy is linked to 1 analyzed protein (EPCAM). 1 DNA variants are known to cause it; 14 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 Congenital diarrhea 5 with tufting enteropathy
EPCAM: Epithelial cell adhesion molecule
It supports epithelial organization and signaling at cell-cell interfaces. Deletions extending through its 3-prime end can silence neighboring MSH2 and cause Lynch syndrome, while biallelic loss-of-function variants cause congenital tufting enteropathy.
1 disease-causing and 14 uncertain variants in EPCAM are linked to Congenital diarrhea 5 with tufting enteropathy.
Known disease-causing variants in Congenital diarrhea 5 with tufting enteropathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| EPCAM C66Y | 66 | Thyroglobulin type-1 | Disease-causing |
Diseases related to Congenital diarrhea 5 with tufting enteropathy
- Lynch syndrome, also linked to EPCAM
- Familial cancer of breast, also linked to EPCAM
- Gastric cancer, also linked to EPCAM
Frequently asked questions
Which genes are linked to Congenital diarrhea 5 with tufting enteropathy?
In CATVariant, Congenital diarrhea 5 with tufting enteropathy is linked to 1 analyzed protein: EPCAM (Epithelial cell adhesion molecule).
How many genetic variants are linked to Congenital diarrhea 5 with tufting enteropathy?
21 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 14 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital diarrhea 5 with tufting enteropathy 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center