※ PTMD 2.0 database Online Browse Options
Browse result for Vitreoretinopathy
※ introduction Autosomal dominant neovascular inflammatory vitreoretinopathy (VRNI) is a blinding disorder that shares some clinical features with retinitis pigmentosa (see 268000), uveitis, and proliferative diabetic retinopathy (see 603933). Features include prominent ocular inflammation; vascular dropout, large spots of hyperpigmentation, and neovascularization of the peripheral and posterior retina; vitreous hemorrhage; and retinal detachment (summary by Sheffield et al., 1992).
Reference
OMIM: Vitreoretinopathy
Reference
OMIM: Vitreoretinopathy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01044 | O75197 | 4041 | LRP5 | Low-density lipoprotein receptor-related protein 5 | Homo sapiens |
| PTMD00007 | P35222 | 1499 | CTNNB1 | Catenin beta-1 | Homo sapiens |
| PTMD03532 | O95859 | 23554 | TSPAN12 | Tetraspanin-12 | Homo sapiens |
| PTMD03661 | P02458 | 1280 | COL2A1 | Collagen alpha-1 chain [Cleaved into: Collagen alpha-1 chain; Chondrocalcin] | Homo sapiens |
| PTMD06079 | Q00604 | 4693 | NDP | Norrin | Homo sapiens |
| PTMD14426 | Q9ULV1 | 8322 | FZD4 | Frizzled-4 | Homo sapiens |
