Desmoid disease, hereditary: genes and variants

Genes linked to Desmoid disease, hereditary

• 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.

  2 disease-causing and 0 uncertain variants in CTNNB1 are linked to Desmoid disease, hereditary.

• APC: Adenomatous polyposis coli protein

  A tumor-suppressor protein that promotes the removal of beta-catenin and helps keep Wnt signaling under control. It also organizes microtubules and actin in the cell, and inherited APC disruption is strongly associated with familial adenomatous polyposis and colorectal tumor risk.

  0 disease-causing and 9 uncertain variants in APC are linked to Desmoid disease, hereditary.

Known disease-causing variants in Desmoid disease, hereditary

Same protein, different disease

• Pilomatrixoma is also caused by CTNNB1 variants; they fall in the same places as the Desmoid disease, hereditary 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 Desmoid disease, hereditary variants (5 disease-causing).
• Medulloblastoma is also caused by CTNNB1 variants; they fall in the same places as the Desmoid disease, hereditary variants (4 disease-causing).

Diseases related to Desmoid disease, hereditary

• Ovarian cancer, also linked to APC and CTNNB1
• Colorectal cancer, also linked to APC and CTNNB1
• Hepatocellular carcinoma, also linked to APC and CTNNB1
• Familial adenomatous polyposis, also linked to APC
• Gastric cancer, also linked to APC
• 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
• Severe intellectual disability-progressive spastic diplegia syndrome, also linked to CTNNB1
• Medulloblastoma, also linked to CTNNB1
• Autosomal dominant polycystic liver disease, also linked to CTNNB1

Frequently asked questions

Which genes are linked to Desmoid disease, hereditary?

In CATVariant, Desmoid disease, hereditary is linked to 2 analyzed proteins: CTNNB1 (Catenin beta-1) and APC (Adenomatous polyposis coli protein).

How many genetic variants are linked to Desmoid disease, hereditary?

11 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 9 are of uncertain significance or have conflicting reports.

Which uncertain variants in Desmoid disease, hereditary 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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