Bone mineral density quantitative trait locus 1: genes and variants
Bone mineral density quantitative trait locus 1 is linked to 1 analyzed protein (LRP5). 5 DNA variants are known to cause it; 159 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 Bone mineral density quantitative trait locus 1
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.
5 disease-causing and 159 uncertain variants in LRP5 are linked to Bone mineral density quantitative trait locus 1.
Known disease-causing variants in Bone mineral density quantitative trait locus 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LRP5 E460K | 460 | LDL-receptor class B 7 | Disease-causing (★★) |
| LRP5 R229W | 229 | LDL-receptor class B 4 | Disease-causing (★★) |
| LRP5 T852M | 852 | LDL-receptor class B 14 | Disease-causing (★★) |
| LRP5 R1188W | 1188 | LDL-receptor class B 20 | Disease-causing (★★) |
| LRP5 N198S | 198 | LDL-receptor class B 3 | Disease-causing (★★) |
Same protein, different disease
- Exudative vitreoretinopathy 4 is also caused by LRP5 variants; they fall mostly in different places as the Bone mineral density quantitative trait locus 1 variants (17 disease-causing).
- Osteoporosis with pseudoglioma is also caused by LRP5 variants; they fall mostly in different places as the Bone mineral density quantitative trait locus 1 variants (9 disease-causing).
- Worth disease is also caused by LRP5 variants; they fall mostly in different places as the Bone mineral density quantitative trait locus 1 variants (9 disease-causing).
- Autosomal dominant osteopetrosis 1 is also caused by LRP5 variants; they fall mostly in different places as the Bone mineral density quantitative trait locus 1 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 Bone mineral density quantitative trait locus 1 variants (6 disease-causing).
Diseases related to Bone mineral density quantitative trait locus 1
- 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
- Polycystic liver disease 4 with or without kidney cysts, 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 Bone mineral density quantitative trait locus 1?
In CATVariant, Bone mineral density quantitative trait locus 1 is linked to 1 analyzed protein: LRP5 (Low-density lipoprotein receptor-related protein 5).
How many genetic variants are linked to Bone mineral density quantitative trait locus 1?
165 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 159 are of uncertain significance or have conflicting reports.
Which uncertain variants in Bone mineral density quantitative trait locus 1 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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