Exudative vitreoretinopathy 4: genes and variants
Exudative vitreoretinopathy 4 is linked to 1 analyzed protein (LRP5). 17 DNA variants are known to cause it; 207 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Exudative vitreoretinopathy 1; Exudative vitreoretinopathy 4, autosomal dominant; Exudative vitreoretinopathy 7
Genes linked to Exudative vitreoretinopathy 4
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.
17 disease-causing and 205 uncertain variants in LRP5 are linked to Exudative vitreoretinopathy 4.
Weakly linked (only a few uncertain records): CTNNB1.
Where Exudative vitreoretinopathy 4 variants cluster
- LRP5 LDL-receptor class B 6 (positions 385–427): 3 of 17 disease-causing changes, 6.6× more than its size predicts.
Known disease-causing variants in Exudative vitreoretinopathy 4
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LRP5 G404R | 404 | LDL-receptor class B 6 | Disease-causing (★★) |
| LRP5 D424N | 424 | LDL-receptor class B 6 | Disease-causing (★★) |
| LRP5 R494Q | 494 | LDL-receptor class B 8 | Disease-causing (★★) |
| LRP5 D1288G | 1288 | LDL-receptor class A 1 | Disease-causing (★★) |
| LRP5 T1041M | 1041 | LDL-receptor class B 17 | Disease-causing (★★) |
| LRP5 R229W | 229 | LDL-receptor class B 4 | Disease-causing (★★) |
| LRP5 R1188W | 1188 | LDL-receptor class B 20 | Disease-causing (★★) |
| LRP5 D1363N | 1363 | LDL-receptor class A 3 | Disease-causing (★★) |
| LRP5 N198S | 198 | LDL-receptor class B 3 | Disease-causing (★★) |
| LRP5 A422T | 422 | LDL-receptor class B 6 | Disease-causing (★) |
| LRP5 G876S | 876 | LDL-receptor class B 15 | Disease-causing (★) |
| LRP5 C926Y | 926 | EGF-like 3 | Disease-causing (★) |
| LRP5 D862V | 862 | YWTD 11 | Disease-causing (★) |
| LRP5 C306Y | 306 | EGF-like 1 | Disease-causing (★) |
| LRP5 P1026R | 1026 | LDL-receptor class B 16 | Disease-causing (★) |
| LRP5 L145F | 145 | LDL-receptor class B 2 | Disease-causing |
| LRP5 C1305Y | 1305 | LDL-receptor class A 2 | Disease-causing |
Uncertain variants in Exudative vitreoretinopathy 4 that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| LRP5 C1305R | 1305 | LDL-receptor class A 2 | Uncertain (★★) | +7: C1305Y at the same position is pathogenic; seen in 2e-06 of gnomAD DNA copies; REVEL 0.987 |
Which prediction tools work for Exudative vitreoretinopathy 4
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- REVEL: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 97 out of 100
- CADD: 95 out of 100
- phyloP: 81 out of 100
Same protein, different disease
- Osteoporosis with pseudoglioma is also caused by LRP5 variants; they fall mostly in different places as the Exudative vitreoretinopathy 4 variants (9 disease-causing).
- Worth disease is also caused by LRP5 variants; they fall mostly in different places as the Exudative vitreoretinopathy 4 variants (9 disease-causing).
- Autosomal dominant osteopetrosis 1 is also caused by LRP5 variants; they fall mostly in different places as the Exudative vitreoretinopathy 4 variants (6 disease-causing).
Diseases related to Exudative vitreoretinopathy 4
- Osteogenesis imperfecta, 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
- 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 Exudative vitreoretinopathy 4?
In CATVariant, Exudative vitreoretinopathy 4 is linked to 1 analyzed protein: LRP5 (Low-density lipoprotein receptor-related protein 5).
How many genetic variants are linked to Exudative vitreoretinopathy 4?
234 variants: 17 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 207 are of uncertain significance or have conflicting reports.
Which uncertain variants in Exudative vitreoretinopathy 4 look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example LRP5 C1305R. These are leads for expert review, not diagnoses.
Which variant effect predictor works best for Exudative vitreoretinopathy 4?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.97, based on 13 disease-causing and 21 harmless variants).
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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