Hepatoblastoma: genes and variants
Hepatoblastoma is linked to 1 analyzed protein (CTNNB1). 1 DNA variants are known to cause it; 2 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 Hepatoblastoma
CTNNB1: Catenin beta-1
It links cadherins to the cytoskeleton at adherens junctions and, when stabilized by Wnt signaling, enters the nucleus to regulate transcription. Activating somatic variants drive many cancers, while germline loss-of-function variants cause CTNNB1 neurodevelopmental disorder.
1 disease-causing and 0 uncertain variants in CTNNB1 are linked to Hepatoblastoma.
Weakly linked (only a few uncertain records): ARID1A, MUTYH, REN and TGFBR2.
Known disease-causing variants in Hepatoblastoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CTNNB1 D32Y | 32 | Disease-causing |
Same protein, different disease
- Pilomatrixoma is also caused by CTNNB1 variants; they fall partly in the same places as the Hepatoblastoma variants (8 disease-causing).
- Severe intellectual disability-progressive spastic diplegia syndrome is also caused by CTNNB1 variants; they fall mostly in different places as the Hepatoblastoma variants (5 disease-causing).
- Medulloblastoma is also caused by CTNNB1 variants; they fall partly in the same places as the Hepatoblastoma variants (4 disease-causing).
Diseases related to Hepatoblastoma
- Ovarian cancer, also linked to CTNNB1
- Colorectal cancer, also linked to CTNNB1
- Malignant tumor of urinary bladder, also linked to CTNNB1
- Ovarian neoplasm, also linked to CTNNB1
- Carcinoma of colon, also linked to CTNNB1
- Pilomatrixoma, also linked to CTNNB1
- Hepatocellular carcinoma, also linked to CTNNB1
- Severe intellectual disability-progressive spastic diplegia syndrome, also linked to CTNNB1
- Medulloblastoma, also linked to CTNNB1
- Desmoid disease, hereditary, also linked to CTNNB1
- Autosomal dominant polycystic liver disease, also linked to CTNNB1
- Familial exudative vitreoretinopathy, also linked to CTNNB1
Frequently asked questions
Which genes are linked to Hepatoblastoma?
In CATVariant, Hepatoblastoma is linked to 1 analyzed protein: CTNNB1 (Catenin beta-1).
How many genetic variants are linked to Hepatoblastoma?
7 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hepatoblastoma 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