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neovascular inflammatory vitreoretinopathy
Summary
- Synonym
-
- ADNIV
- Retinitis proliferans
- autosomal dominant neovascular inflammatory vitreoretinopathy
- proliferative vitreoretinopathy
- Definition
- A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.
- Super Class
- retinal disease vitreous disease
External Links
- Disease Ontology
- DOID:9719
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 6120 | RPE | ribulose-5-phosphate-3-epimerase | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06828 | Fibromodulin | |
| Q96AT9 | Ribulose-phosphate 3-epimerase |
