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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01044O751974041
LRP5
Low-density lipoprotein receptor-related protein 5
Homo sapiens
PTMD00007P352221499
CTNNB1
Catenin beta-1
Homo sapiens
PTMD03532O9585923554
TSPAN12
Tetraspanin-12
Homo sapiens
PTMD03661P024581280
COL2A1
Collagen alpha-1 chain [Cleaved into: Collagen alpha-1 chain; Chondrocalcin]
Homo sapiens
PTMD06079Q006044693
NDP
Norrin
Homo sapiens
PTMD14426Q9ULV18322
FZD4
Frizzled-4
Homo sapiens