Autosomal dominant polycystic liver disease: genes and variants

Genes linked to Autosomal dominant polycystic liver disease

• LRP5: Low-density lipoprotein receptor-related protein 5

  It transduces canonical Wnt signals that strongly regulate bone formation and also contributes to retinal vascular development. Loss-of-function variants cause osteoporosis-pseudoglioma syndrome, while activating variants cause high-bone-mass disorders.

  1 disease-causing and 2 uncertain variants in LRP5 are linked to Autosomal dominant polycystic liver disease.

• 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 Autosomal dominant polycystic liver disease.

Weakly linked (only a few uncertain records): HNF4A, NF2 and PKD2.

Known disease-causing variants in Autosomal dominant polycystic liver disease

Same protein, different disease

• Exudative vitreoretinopathy 4 is also caused by LRP5 variants; they fall mostly in different places as the Autosomal dominant polycystic liver disease variants (17 disease-causing).
• Osteoporosis with pseudoglioma is also caused by LRP5 variants; they fall mostly in different places as the Autosomal dominant polycystic liver disease variants (9 disease-causing).
• Worth disease is also caused by LRP5 variants; they fall mostly in different places as the Autosomal dominant polycystic liver disease variants (9 disease-causing).
• Autosomal dominant osteopetrosis 1 is also caused by LRP5 variants; they fall mostly in different places as the Autosomal dominant polycystic liver disease variants (6 disease-causing).
• Polycystic liver disease 4 with or without kidney cysts is also caused by LRP5 variants; they fall mostly in different places as the Autosomal dominant polycystic liver disease variants (6 disease-causing).
• Pilomatrixoma is also caused by CTNNB1 variants; they fall mostly in different places as the Autosomal dominant polycystic liver disease 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 Autosomal dominant polycystic liver disease variants (5 disease-causing).
• Medulloblastoma is also caused by CTNNB1 variants; they fall mostly in different places as the Autosomal dominant polycystic liver disease variants (4 disease-causing).

Diseases related to Autosomal dominant polycystic liver disease

• Familial exudative vitreoretinopathy, also linked to CTNNB1 and LRP5
• Osteogenesis imperfecta, also linked to LRP5
• Ovarian cancer, also linked to CTNNB1
• Colorectal cancer, also linked to CTNNB1
• Malignant tumor of urinary bladder, also linked to CTNNB1
• Exudative vitreoretinopathy 4, also linked to LRP5
• Ovarian neoplasm, also linked to CTNNB1
• Carcinoma of colon, also linked to CTNNB1
• Pilomatrixoma, also linked to CTNNB1
• Worth disease, also linked to LRP5
• Osteoporosis with pseudoglioma, also linked to LRP5
• Osteoporosis, also linked to LRP5

Frequently asked questions

Which genes are linked to Autosomal dominant polycystic liver disease?

In CATVariant, Autosomal dominant polycystic liver disease is linked to 2 analyzed proteins: LRP5 (Low-density lipoprotein receptor-related protein 5) and CTNNB1 (Catenin beta-1).

How many genetic variants are linked to Autosomal dominant polycystic liver disease?

8 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.

Which uncertain variants in Autosomal dominant polycystic liver disease 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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