Polycystic liver disease 4 with or without kidney cysts: genes and variants
Polycystic liver disease 4 with or without kidney cysts is linked to 1 analyzed protein (LRP5). 6 DNA variants are known to cause it; 74 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 Polycystic liver disease 4 with or without kidney cysts
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.
6 disease-causing and 74 uncertain variants in LRP5 are linked to Polycystic liver disease 4 with or without kidney cysts.
Known disease-causing variants in Polycystic liver disease 4 with or without kidney cysts
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LRP5 G404R | 404 | LDL-receptor class B 6 | Disease-causing (★★) |
| LRP5 D1288G | 1288 | LDL-receptor class A 1 | Disease-causing (★★) |
| LRP5 T1041M | 1041 | LDL-receptor class B 17 | Disease-causing (★★) |
| LRP5 A422T | 422 | LDL-receptor class B 6 | Disease-causing (★) |
| LRP5 G876S | 876 | LDL-receptor class B 15 | Disease-causing (★) |
| LRP5 R1529S | 1529 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Exudative vitreoretinopathy 4 is also caused by LRP5 variants; they fall mostly in different places as the Polycystic liver disease 4 with or without kidney cysts variants (17 disease-causing).
- Osteoporosis with pseudoglioma is also caused by LRP5 variants; they fall mostly in different places as the Polycystic liver disease 4 with or without kidney cysts variants (9 disease-causing).
- Worth disease is also caused by LRP5 variants; they fall mostly in different places as the Polycystic liver disease 4 with or without kidney cysts variants (9 disease-causing).
- Autosomal dominant osteopetrosis 1 is also caused by LRP5 variants; they fall mostly in different places as the Polycystic liver disease 4 with or without kidney cysts variants (6 disease-causing).
- Bone mineral density quantitative trait locus 1 is also caused by LRP5 variants; they fall mostly in different places as the Polycystic liver disease 4 with or without kidney cysts variants (5 disease-causing).
Diseases related to Polycystic liver disease 4 with or without kidney cysts
- Osteogenesis imperfecta, also linked to LRP5
- Exudative vitreoretinopathy 4, also linked to LRP5
- Worth disease, also linked to LRP5
- Osteoporosis with pseudoglioma, also linked to LRP5
- Osteoporosis, also linked to LRP5
- Autosomal dominant osteopetrosis 1, also linked to LRP5
- Bone mineral density quantitative trait locus 1, also linked to LRP5
- Postmenopausal osteoporosis, also linked to LRP5
- Skeletal dysplasia, also linked to LRP5
- Autosomal dominant polycystic liver disease, also linked to LRP5
- Familial exudative vitreoretinopathy, also linked to LRP5
Frequently asked questions
Which genes are linked to Polycystic liver disease 4 with or without kidney cysts?
In CATVariant, Polycystic liver disease 4 with or without kidney cysts is linked to 1 analyzed protein: LRP5 (Low-density lipoprotein receptor-related protein 5).
How many genetic variants are linked to Polycystic liver disease 4 with or without kidney cysts?
94 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 74 are of uncertain significance or have conflicting reports.
Which uncertain variants in Polycystic liver disease 4 with or without kidney cysts 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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