Generalized juvenile polyposis/juvenile polyposis coli: genes and variants
Generalized juvenile polyposis/juvenile polyposis coli is linked to 2 analyzed proteins (SMAD4 and BMPR1A). 2 DNA variants are known to cause it; 12 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 Generalized juvenile polyposis/juvenile polyposis coli
SMAD4: SMAD family member 4
It forms transcriptional complexes with activated receptor-regulated SMADs and is the central nuclear mediator shared by TGF-beta and BMP pathways. Germline loss-of-function variants cause juvenile polyposis or combined juvenile-polyposis-HHT, while specific gain-of-function variants cause Myhre syndrome.
2 disease-causing and 4 uncertain variants in SMAD4 are linked to Generalized juvenile polyposis/juvenile polyposis coli.
BMPR1A: Bone morphogenetic protein receptor type-1A
It transduces BMP signals that regulate epithelial growth, differentiation, and tissue patterning through SMAD proteins and other pathways. Germline loss-of-function variants cause juvenile polyposis syndrome and can substantially increase gastrointestinal cancer risk.
0 disease-causing and 8 uncertain variants in BMPR1A are linked to Generalized juvenile polyposis/juvenile polyposis coli.
Known disease-causing variants in Generalized juvenile polyposis/juvenile polyposis coli
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SMAD4 G508D | 508 | MH2 | Disease-causing (★) |
| SMAD4 I383R | 383 | MH2 | Disease-causing (★) |
Same protein, different disease
- Juvenile polyposis syndrome is also caused by SMAD4 variants; they fall mostly in different places as the Generalized juvenile polyposis/juvenile polyposis coli variants (18 disease-causing).
- Familial thoracic aortic aneurysm and aortic dissection is also caused by SMAD4 variants; they fall mostly in different places as the Generalized juvenile polyposis/juvenile polyposis coli variants (12 disease-causing).
Diseases related to Generalized juvenile polyposis/juvenile polyposis coli
- Juvenile polyposis syndrome, also linked to BMPR1A and SMAD4
- Familial thoracic aortic aneurysm and aortic dissection, also linked to SMAD4
- Pulmonary arterial hypertension, also linked to BMPR1A
- Familial pancreatic carcinoma, also linked to SMAD4
- Hereditary hemorrhagic telangiectasia, also linked to SMAD4
- Carcinoma of pancreas, also linked to SMAD4
- Polyposis syndrome, hereditary mixed, 2, also linked to BMPR1A
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, also linked to SMAD4
Frequently asked questions
Which genes are linked to Generalized juvenile polyposis/juvenile polyposis coli?
In CATVariant, Generalized juvenile polyposis/juvenile polyposis coli is linked to 2 analyzed proteins: SMAD4 (SMAD family member 4) and BMPR1A (Bone morphogenetic protein receptor type-1A).
How many genetic variants are linked to Generalized juvenile polyposis/juvenile polyposis coli?
21 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.
Which uncertain variants in Generalized juvenile polyposis/juvenile polyposis coli 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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