VRNI
MCID: VTR013
MIFTS: 61

Vitreoretinopathy, Neovascular Inflammatory (VRNI)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Vitreoretinopathy, Neovascular Inflammatory

MalaCards integrated aliases for Vitreoretinopathy, Neovascular Inflammatory:

Name: Vitreoretinopathy, Neovascular Inflammatory 57 74 29 13 6 40
Proliferative Vitreoretinopathy 57 12 74 15 17 72
Adniv 57 59 74
Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy 59 37
Vrni 57 74
Pvr 57 74
Vitreoretinopathy, Neovascular Inflammatory, Autosomal Dominant; Adniv 57
Vitreoretinopathy, Neovascular Inflammatory, Autosomal Dominant 57
Neovascular Inflammatory Vitreoretinopathy Autosomal Dominant 74
Proliferative Vitreoretinopathy; Pvr 57
Vitreoretinopathy, Proliferative 44
Proliferative Vitreo-Retinopathy 72
Vitreoretinopathy Proliferative 55
Retinitis Proliferans 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant neovascular inflammatory vitreoretinopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant (11q13)


HPO:

32
vitreoretinopathy, neovascular inflammatory:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:9719
OMIM 57 193235
KEGG 37 H01798
MeSH 44 D018630
ICD10 via Orphanet 34 H35.2
Orphanet 59 ORPHA329211
UMLS 72 C0242852 C2880931

Summaries for Vitreoretinopathy, Neovascular Inflammatory

UniProtKB/Swiss-Prot : 74 Vitreoretinopathy, neovascular inflammatory: An autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. Patients present during the second or third decade of life with posterior uveitis and reduction of the electroretinogram b-wave. They become more symptomatic when cataracts, cystoid macular edema, and disk edema diminish visual acuity during the second stage. Severe vision loss begins during the third stage when proliferative retinal neovascularization and epiretinal membranes appear. There is an ongoing pigmentary retinal degeneration and peripheral visual field loss during all stages. In the fourth stage, proliferative vitreoretinopathy causes tractional retinal detachments at the macula and vitreous base. The fifth or end-stage disease is marked by phthisis.

MalaCards based summary : Vitreoretinopathy, Neovascular Inflammatory, also known as proliferative vitreoretinopathy, is related to preretinal fibrosis and macular holes. An important gene associated with Vitreoretinopathy, Neovascular Inflammatory is CAPN5 (Calpain 5), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Isotretinoin and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are blindness and abnormal electroretinogram

OMIM : 57 Autosomal dominant neovascular inflammatory vitreoretinopathy 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). (193235)

KEGG : 37
Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an inherited autoimmune uveitis and vitreoretinal degeneration characterized by inflammatory cells in the vitreous and anterior chamber, photoreceptor degeneration, vitreous hemorrhages, epiretinal membranes (ERMs), and proliferative iris and retinal neovascularization. It is caused by mutations in CAPN5 gene, encoding an intracellular protease expressed in the retina. In most patients the diagnosis is difficult to make before age 40. Electroretinography can help make the diagnosis in younger individuals in whom the only other sign is the presence of vitreous cells.

Related Diseases for Vitreoretinopathy, Neovascular Inflammatory

Diseases related to Vitreoretinopathy, Neovascular Inflammatory via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 preretinal fibrosis 31.4 TGFB2 GFAP
2 macular holes 31.1 TGFB2 CCL2 ADM
3 uveitis 30.9 TGFB2 CCL2 CAPN5
4 microvascular complications of diabetes 1 29.1 VTN TIMP1 TGFB2 HGF GFAP FGF2
5 poliomyelitis 11.4
6 paralytic poliomyelitis 11.3
7 total anomalous pulmonary venous return 1 11.2
8 cleft lip/palate-ectodermal dysplasia syndrome 11.2
9 epidermodysplasia verruciformis 1 11.2
10 congenital bile acid synthesis defect 11.2
11 pericardium disease 11.2
12 agraphia 11.2
13 heart conduction disease 11.2
14 cardiac tamponade 11.2
15 pericardial effusion 11.2
16 tooth ankylosis 11.2
17 enterocele 11.2
18 prolapse of female genital organ 11.2
19 basilar artery insufficiency 11.2
20 ovarian cystic teratoma 11.2
21 urethral diverticulum 11.2
22 vitreoretinopathy 10.9
23 microvascular complications of diabetes 5 10.8
24 retinal detachment 10.8
25 microvascular complications of diabetes 2 10.8
26 macular retinal edema 10.5
27 retinal disease 10.5
28 cataract 10.5
29 keratopathy 10.5
30 myopia 10.4
31 eye disease 10.4
32 vitreous detachment 10.4
33 autoimmune uveitis 10.4
34 cornea cancer 10.3 GFAP FGF2
35 yemenite deaf-blind hypopigmentation syndrome 10.3
36 blind hypotensive eye 10.3
37 breast cancer 10.3
38 cytokine deficiency 10.3
39 coats disease 10.2
40 macular degeneration, age-related, 1 10.2
41 endophthalmitis 10.2
42 retinal degeneration 10.2
43 47,xyy 10.2
44 laryngitis 10.2 TGFB1 FGF2
45 retinitis pigmentosa 10.2
46 vcan-related vitreoretinopathy 10.2
47 tetralogy of fallot 10.2
48 orofacial cleft 3 10.2
49 human immunodeficiency virus type 1 10.2
50 neuroma 10.2 TGFB1 GFAP FGF2

Graphical network of the top 20 diseases related to Vitreoretinopathy, Neovascular Inflammatory:



Diseases related to Vitreoretinopathy, Neovascular Inflammatory

Symptoms & Phenotypes for Vitreoretinopathy, Neovascular Inflammatory

Human phenotypes related to Vitreoretinopathy, Neovascular Inflammatory:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 blindness 32 HP:0000618
2 abnormal electroretinogram 32 HP:0000512
3 retinal detachment 32 HP:0000541
4 uveitis 32 HP:0000554
5 vitreous hemorrhage 32 HP:0007902
6 vitreoretinopathy 32 HP:0007773
7 large hyperpigmented retinal spots 32 HP:0007658
8 posterior retinal neovascularization 32 HP:0007778
9 peripheral retinal neovascularization 32 HP:0030667

Symptoms via clinical synopsis from OMIM:

57
Eyes:
blindness
retinal detachment
vitreous hemorrhage
large hyperpigmented retinal spots
neovascular inflammatory vitreoretinopathy
more
Lab:
distinct b-wave abnormality on electrooculography

Clinical features from OMIM:

193235

MGI Mouse Phenotypes related to Vitreoretinopathy, Neovascular Inflammatory:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.11 ADM FGF1 FGF2 FN1 HGF SPARC
2 cardiovascular system MP:0005385 10.06 ADM FGF2 FN1 GFAP HGF TGFB1
3 homeostasis/metabolism MP:0005376 10.06 ADM FGF1 FGF2 FN1 GFAP SPARC
4 immune system MP:0005387 9.96 ADM CAPN5 CCL2 FN1 GFAP SPARC
5 mortality/aging MP:0010768 9.85 ADM CAPN5 FGF2 FN1 GFAP HGF
6 muscle MP:0005369 9.5 ADM FGF2 FN1 GFAP TGFB1 TGFB2
7 neoplasm MP:0002006 9.1 FGF2 FN1 SPARC TGFB1 THBS1 TIMP1

Drugs & Therapeutics for Vitreoretinopathy, Neovascular Inflammatory

Drugs for Vitreoretinopathy, Neovascular Inflammatory (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3 Peripheral Nervous System Agents Phase 4
4 Dermatologic Agents Phase 4
5 Anesthetics, Local Phase 4
6 Central Nervous System Depressants Phase 4
7 Anesthetics Phase 4
8
Colchicine Approved Phase 3 64-86-8 6167 2833
9
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
10
Fluorouracil Approved Phase 3 51-21-8 3385
11
Dalteparin Approved Phase 3 9005-49-6
12
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
13
Ranibizumab Approved Phase 3 347396-82-1 459903
14
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
15
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 54670067 5785
16 Tubulin Modulators Phase 3
17 Antimitotic Agents Phase 3
18 Antirheumatic Agents Phase 3
19 Hormone Antagonists Phase 3
20 Fibrinolytic Agents Phase 3
21 glucocorticoids Phase 3
22 Anti-Inflammatory Agents Phase 3
23 Hormones Phase 3
24 Heparin, Low-Molecular-Weight Phase 3
25 Anticoagulants Phase 3
26 calcium heparin Phase 3
27 Calcium, Dietary Phase 3
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
29 Pharmaceutical Solutions Phase 3
30 Immunosuppressive Agents Phase 3
31 Immunologic Factors Phase 3
32 Antimetabolites Phase 3
33 Antimetabolites, Antineoplastic Phase 3
34 Angiogenesis Inhibitors Phase 3
35 Angiogenesis Modulating Agents Phase 3
36 triamcinolone acetonide Phase 3
37 Triamcinolone hexacetonide Phase 3
38 Triamcinolone diacetate Phase 3
39
Bevacizumab Approved, Investigational Phase 2 216974-75-3
40 Antineoplastic Agents, Immunological Phase 2
41
Timolol Approved 26839-75-8 33624 5478
42
Dorzolamide Approved 120279-96-1 3154 5284549
43
Bimatoprost Approved, Investigational 155206-00-1 5311027
44
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
45
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
46
Racepinephrine Approved Early Phase 1 329-65-7 838
47
Epinephrine Approved, Vet_approved Early Phase 1 51-43-4 5816
48
Iodine Approved, Investigational 7553-56-2 807
49
Povidone-iodine Approved 25655-41-8
50
Povidone Approved 9003-39-8

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Determining the Effect of Low-dose Isotretinoin on Proliferative Vitreoretinopathy Completed NCT01445028 Phase 4 Isotretinoin
2 The Effects of Triamcinolone Acetonide With Retrobulbar Anesthesia on Postoperative Pain Control Following Vitreoretinal Surgery Completed NCT01995045 Phase 4 Triamcinolone;Bupivicaine Hydrochloride
3 Oral Colchicine Combined With Intravitreal Infusion of Dexamethasone, LMW Heparin and 5-FU for Management of Proliferative Vitreoretinopathy (PVR) Unknown status NCT00370760 Phase 3 oral colchicine, dexamethasone, low molecular weight heparin, 5-FU;placebo
4 Efficacy of Oral Colchicine in Prevention of Proliferative Vitreoretinopathy in Rhegmatogenous Retinal Detachment Unknown status NCT00370201 Phase 3 colchicine
5 The Effect of 5-FU and LMW Heparin on the Rate of Retinal Redetachment After Silicone Oil Removal in Cases of PVR Unknown status NCT00371020 Phase 3 low molecular weight heparin, 5-FU
6 Comparison of Two High-Density Silicone Oils in Complicated Rhegmatogenous Retinal Detachment Unknown status NCT00403702 Phase 2, Phase 3 Oxane HD [oil-RMN3-mixture];Densiron [(F6H8)
7 Surgical Management of Pseudophakic and Aphakic Retinal Detachment; a Randomized Clinical Trial Unknown status NCT00370279 Phase 3
8 25-Gauge Vitrectomy Combine With Ranibizumab or Triamcinolone Acetonide on Proliferative Diabetic Retinopathy in Chinese Patients Unknown status NCT02328118 Phase 2, Phase 3 Ranibizumab;Triamcinolone Acetonide
9 Triamcinolone Acetonide in Silicone-Filled Eyes as Adjunctive Treatment for Proliferative Vitreoretinopathy Completed NCT00373282 Phase 3 Triamcinolone acetonide
10 The Silicone Study Completed NCT00000140 Phase 3 Perfluoropropane;Sulfur Hexafluoride;Silicone Oil
11 Intravitreal Ranibizumab or Triamcinolone Acetonide as Adjunctive Treatment to Panretinal Photocoagulation for Proliferative Diabetic Retinopathy Completed NCT00445003 Phase 3 Ranibizumab;Triamcinolone Acetonide
12 Prophylactic Intravitreal 5-Fluorouracil and Heparin to Prevent PVR in High-risk Patients With Retinal Detachment. Recruiting NCT02834559 Phase 3 5-fluorouracil and low molecular weight heparin;Placebo
13 A Phase 3 Multi-centre Double-masked Randomised Controlled Trial of Adjunctive Intraocular and Periocular Steroid (Triamcinolone Acetonide) Versus Standard Treatment in Eyes Undergoing Vitreoretinal Surgery for Open Globe Trauma. Recruiting NCT02873026 Phase 3 Triamcinolone Acetonide
14 25-Gauge Vitrectomy With Ranibizumab or Triamcinolone Acetonide on Proliferative Diabetic Retinopathy in China: a Randomized, Single Blind Trial Recruiting NCT02447185 Phase 3 Ranibizumab;Triamcinolone Acetonide
15 Intravitreal Decorin Preventing Proliferative Vitreoretinopathy in Perforating Injuries: a Pilot Study. Completed NCT02865031 Phase 1, Phase 2 Decorin
16 A Pilot Study of Peribulbar Triamcinolone Acetonide for Diabetic Macular Edema Completed NCT00369486 Phase 2 40mg triamcinolone;20mg triamcinolone;40mg triamcinolone + laser;20mg triamcinolone + laser
17 Bevacizumab Against Recurrent Retinal Detachment Active, not recruiting NCT02192970 Phase 2 Bevacizumab
18 Evaluation Use Optical Coherence Tomography - Rescan During Dissection of Macular Membranes : Pre and Post Operative Aspects Unknown status NCT02748421
19 Double Endotamponade With Perfluorodecalin and Silicone Oil in Retinal Detachment Surgery: Randomised Clinical Trial of Safety Unknown status NCT01959568
20 Comparison of Two Techniques for Epiretinal or Internal Limiting Membrane Peel. Unknown status NCT00892619
21 A Prospective Pilot Study Evaluating the Effect of Intravitreal Injection of Bevacizumab on Recurrent Retinal Detachment Due to Proliferative Vitreoretinopathy Completed NCT01860586 Bevacizumab
22 Outcomes of Vitrectomy in Pediatric Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT03208205
23 A Prospective, Randomized Study Comparing 1000 Centistoke and 5000 Centistoke Silicone Oil Tamponade for Repair of Proliferative Vitreoretinopathy Retinal Detachments and Diabetic Tractional Retinal Detachments Completed NCT01255293
24 Comparison of Vitrectomy Without Internal Limiting Membrane Peeling Versus Inverted ILM Flap Technique for Macular Hole Retinal Detachment in Highly Myopic Eyes Completed NCT04011007
25 Emulsification of Different Viscosity Silicone Oil After Complicated Retinal Detachment Surgery: A Randomized Double-masked Clinical Trial Completed NCT02988583
26 The Influence of Silicone Oil on Nerve Fiber Layer Thickness After Pars Plana Vitrectomy Completed NCT01255306 Local medical treatment of raised intraocular pressure
27 Plasma Levels of Matrix Metalloproteinases and Degree of DNA Fragmentation in Patients With Pseudoexfoliation Syndrome and Open-Angle Glaucoma (PEXG) Completed NCT00327613
28 Adrenocorticotropic Hormone for Intraocular Inflammation in Post-operative Proliferative Vitreoretinopathy Patients Recruiting NCT03727776 Early Phase 1 Adrenocorticotropic Hormone
29 An Observational Study of Retinal Function and Structure After Repair of Macula-involving Retinal Detachment Complicated by Proliferative Vitreoretinopathy (RDPVR) Using Adaptive Optics Recruiting NCT03551574
30 Silicone Oil Versus Long-acting Gas Tamponade in Proliferative Diabetic Retinopathy Patients With High-grade Vitreoretinal Adhesion Undergoing Vitrectomy Recruiting NCT03660384
31 Pro-permeability and Pro-fibrosis Factors in the Aqueous of Patients With Retinal Diseases Recruiting NCT02688309 Ozurdex
32 A Randomized Controlled Trial Comparing Pneumatic Retinopexy Versus Vitrectomy for the Management of Primary Retinal Detachment in Patients With Extended Criteria; Anatomical Success, Functional Success and Impact on Patient Quality of Life Not yet recruiting NCT02871531
33 Surgical Retinotomy for the Treatment of Glaucoma Not yet recruiting NCT03798145

Search NIH Clinical Center for Vitreoretinopathy, Neovascular Inflammatory

Cochrane evidence based reviews: vitreoretinopathy, proliferative

Genetic Tests for Vitreoretinopathy, Neovascular Inflammatory

Genetic tests related to Vitreoretinopathy, Neovascular Inflammatory:

# Genetic test Affiliating Genes
1 Vitreoretinopathy, Neovascular Inflammatory 29 CAPN5

Anatomical Context for Vitreoretinopathy, Neovascular Inflammatory

MalaCards organs/tissues related to Vitreoretinopathy, Neovascular Inflammatory:

41
Eye, Retina, Endothelial, Monocytes, Smooth Muscle, Cortex, Bone

Publications for Vitreoretinopathy, Neovascular Inflammatory

Articles related to Vitreoretinopathy, Neovascular Inflammatory:

(show top 50) (show all 2475)
# Title Authors PMID Year
1
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. 8 71
23055945 2012
2
Autosomal dominant neovascular inflammatory vitreoretinopathy. 8 71
2234842 1990
3
Effect of Smad7 gene overexpression on transforming growth factor beta-induced retinal pigment fibrosis in a proliferative vitreoretinopathy mouse model. 38 8
17502504 2007
4
Tissue transglutaminase as a modifying enzyme of the extracellular matrix in PVR membranes. 38 8
12506096 2003
5
CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model. 8
25994508 2015
6
Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. 8
1284594 1992
7
Impaired intracellular signaling may allow up-regulation of CTGF-synthesis and secondary peri-retinal fibrosis in human retinal pigment epithelial cells from patients with age-related macular degeneration. 9 38
20238043 2010
8
Connective tissue growth factor as a mediator of intraocular fibrosis. 9 38
18450591 2008
9
Troglitazone suppresses transforming growth factor beta-mediated fibrogenesis in retinal pigment epithelial cells. 9 38
18253093 2008
10
Functional characteristics of connective tissue growth factor on vitreoretinal cells. 9 38
17303801 2007
11
Stage specificity of novel growth factor expression during development of proliferative vitreoretinopathy. 9 38
16531976 2007
12
Expression of angiogenic and fibrogenic factors in proliferative vitreoretinal disorders. 9 38
17375263 2007
13
Antisense oligonucleotide targeting c-fos mRNA limits retinal pigment epithelial cell proliferation: a key step in the progression of proliferative vitreoretinopathy. 9 38
16973160 2006
14
Association of connective tissue growth factor with fibrosis in vitreoretinal disorders in the human eye. 9 38
17030714 2006
15
Chemokines in proliferative diabetic retinopathy and proliferative vitreoretinopathy. 9 38
17194635 2006
16
Transforming growth factor beta2-induced myofibroblastic differentiation of human retinal pigment epithelial cells: regulation by extracellular matrix proteins and hepatocyte growth factor. 9 38
16563380 2006
17
Intraretinal immunohistochemistry findings in proliferative vitreoretinopathy with retinal shortening. 9 38
16679807 2006
18
High TGF-beta2 levels during primary retinal detachment may protect against proliferative vitreoretinopathy. 9 38
15505063 2004
19
Glial cell expression of hepatocyte growth factor in vitreoretinal proliferative disease. 9 38
15156160 2004
20
[Expression of adrenomedullin and adrenomedullin receptor in the epiretinal membranes of proliferative vitreoretinopathy]. 9 38
15312626 2004
21
[Expression of TGF-beta receptor II in periretinal membranes of proliferative vitreoretinopathy]. 9 38
14740555 2003
22
Tenascin-C levels in the vitreous of patients with proliferative vitreoretinopathy. 9 38
14573976 2003
23
Effects of the matricellular protein SPARC on human retinal pigment epithelial cell behavior. 9 38
12655283 2003
24
MAP kinase and beta-catenin signaling in HGF induced RPE migration. 9 38
12500177 2002
25
The role of matricellular proteins thrombospondin-1 and osteonectin during RPE cell migration in proliferative vitreoretinopathy. 9 38
12658547 2002
26
Elevated immunoreactive-adrenomedullin levels in the aqueous humor of patients with uveitis and vitreoretinal disorders. 9 38
12383875 2002
27
Basic fibroblast growth factor, glutamine synthetase, and interleukin-6 in vitreous fluid from eyes with retinal detachment complicated by proliferative vitreoretinopathy. 9 38
12208248 2002
28
Non-paralleled increase of hepatocyte growth factor and vascular endothelial growth factor in the eyes with angiogenic and nonangiogenic fibroproliferation. 9 38
11834884 2002
29
[A study of different intracellular signal transduction pathways on phagocytosis of fibronectin by retinal pigment epithelial cells]. 9 38
11864408 2001
30
Transforming growth factor-beta1 induces alpha-smooth muscle actin expression and fibronectin synthesis in cultured human retinal pigment epithelial cells. 9 38
11272783 2001
31
[Electron-immunostaining characteristics of platelet-derived growth factor, transforming growth factor beta1 and their receptors in epiretinal membranes]. 9 38
11853632 2000
32
mRNA expression of proto-oncogenes and platelet-derived growth factor in proliferative vitreoretinal diseases. 9 38
10913653 2000
33
Hepatocyte growth factor levels in the vitreous of patients with proliferative vitreoretinopathy. 9 38
10844070 2000
34
Quantitative study of basic fibroblast growth factor in vitreous with proliferative vitreoretinopathy. 9 38
12579721 2000
35
Platelet-derived growth factor and basic fibroblast growth factor immunolocalized in proliferative retinal diseases. 9 38
11775539 2000
36
Elevated adrenomedullin in the vitreous of patients with proliferative vitreoretinopathy. 9 38
10612519 1999
37
[Effects of epidermal growth factor, basic fibroblast growth factor and 5-fluorouracil on human retinal pigment epithelial wound closure in vitro]. 9 38
11835794 1999
38
Hepatocyte growth factor receptor in human RPE cells: implications in proliferative vitreoretinopathy. 9 38
9888438 1999
39
TIMP-1 and TIMP-2 levels in vitreous and subretinal fluid. 9 38
9822966 1998
40
Platelet derived growth factor and fibroblast growth factor basic levels in the vitreous of patients with vitreoretinal disorders. 9 38
9613386 1998
41
C-C chemokines in the vitreous of patients with proliferative vitreoretinopathy and proliferative diabetic retinopathy. 9 38
9869464 1998
42
Metalloproteinases and TIMP-1 in proliferative vitreoretinopathy. 9 38
9191278 1997
43
Monocyte chemotactic protein-1 in proliferative vitreoretinal disorders. 9 38
9152065 1997
44
Production of platelet-derived growth factor by interleukin-1 beta and transforming growth factor-beta-stimulated retinal pigment epithelial cells leads to contraction of collagen gels. 9 38
9112977 1997
45
Basic fibroblast growth factor mRNA, bFGF peptide and FGF receptor in epiretinal membranes of intraocular proliferative disorders (PVR and PDR). 9 38
9237137 1996
46
Cytokines in proliferative diabetic retinopathy and proliferative vitreoretinopathy. 9 38
8585935 1995
47
Transforming growth factor-beta regulates human retinal pigment epithelial cell phagocytosis by influencing a protein kinase C-dependent pathway. 9 38
7531168 1994
48
Cytokine effect on fibronectin release by retinal pigment epithelial cells. 9 38
7956309 1994
49
The significance of vitronectin in proliferative diabetic retinopathy. 9 38
7523258 1994
50
The role of fibronectin, laminin, vitronectin and their receptors on cellular adhesion in proliferative vitreoretinopathy. 9 38
7514582 1994

Variations for Vitreoretinopathy, Neovascular Inflammatory

ClinVar genetic disease variations for Vitreoretinopathy, Neovascular Inflammatory:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CAPN5 NM_004055.5(CAPN5): c.865C> T (p.Arg289Trp) single nucleotide variant Pathogenic rs886041303 11:76826606-76826606 11:77115560-77115560
2 CAPN5 NM_004055.5(CAPN5): c.731T> C (p.Leu244Pro) single nucleotide variant Pathogenic rs397514602 11:76826472-76826472 11:77115426-77115426
3 CAPN5 NM_004055.5(CAPN5): c.728G> T (p.Arg243Leu) single nucleotide variant Pathogenic rs397514601 11:76826469-76826469 11:77115423-77115423
4 CAPN5 NM_004055.5(CAPN5): c.1894C> A (p.Leu632Ile) single nucleotide variant Likely benign rs111264315 11:76834887-76834887 11:77123841-77123841

UniProtKB/Swiss-Prot genetic disease variations for Vitreoretinopathy, Neovascular Inflammatory:

74
# Symbol AA change Variation ID SNP ID
1 CAPN5 p.Arg243Leu VAR_069277 rs397514601
2 CAPN5 p.Leu244Pro VAR_069278 rs397514602

Expression for Vitreoretinopathy, Neovascular Inflammatory

Search GEO for disease gene expression data for Vitreoretinopathy, Neovascular Inflammatory.

Pathways for Vitreoretinopathy, Neovascular Inflammatory

Pathways related to Vitreoretinopathy, Neovascular Inflammatory according to GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 TIMP1 TGFB2 TGFB1 HGF GFAP FN1
2
Show member pathways
13.47 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
3
Show member pathways
13.35 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
4
Show member pathways
13.34 VTN THBS1 TGFB2 TGFB1 FN1 CCL2
5
Show member pathways
13.3 TIMP1 TGFB1 HGF FN1 FGF2 FGF1
6
Show member pathways
13.26 TIMP1 THBS1 TGFB2 TGFB1 SPARC HGF
7
Show member pathways
13.25 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
8
Show member pathways
13.24 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
9
Show member pathways
13.21 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
10
Show member pathways
13.01 TIMP1 TGFB2 TGFB1 HGF FN1 FGF2
11
Show member pathways
12.99 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
12
Show member pathways
12.94 VTN THBS1 HGF FN1 FGF2 FGF1
13
Show member pathways
12.84 VTN THBS1 HGF FN1 CAPN5
14 12.8 TGFB2 TGFB1 HGF FN1 FGF2 FGF1
15 12.72 TGFB2 TGFB1 HGF FGF2 FGF1
16
Show member pathways
12.72 TGFB2 TGFB1 HGF FGF2 FGF1
17
Show member pathways
12.67 THBS1 HGF FGF2 FGF1
18
Show member pathways
12.66 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
19
Show member pathways
12.53 TIMP1 FN1 FGF2 CCL2
20
Show member pathways
12.36 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
21
Show member pathways
12.26 VTN TIMP1 THBS1 TGFB2 TGFB1 SPARC
22
Show member pathways
12.21 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
23 12.18 VTN THBS1 TGFB2 TGFB1 HGF FN1
24 12.08 TGFB2 TGFB1 FGF1
25
Show member pathways
12.08 VTN THBS1 FN1
26 12.05 TGFB2 TGFB1 HGF
27 12.01 THBS1 TGFB1 FN1
28 12.01 TGFB1 HGF FGF2
29
Show member pathways
11.99 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
30 11.95 TGFB1 GFAP CCL2
31 11.9 TIMP1 TGFB1 HGF FN1 FGF2 CCL2
32 11.89 TGFB2 TGFB1 FN1 CCL2
33 11.88 VTN THBS1 TGFB1 SPARC FN1
34 11.87 TGFB2 TGFB1 FN1
35 11.83 TGFB2 TGFB1 CCL2
36 11.83 THBS1 TGFB2 TGFB1
37
Show member pathways
11.71 VTN TGFB2 TGFB1
38 11.7 TGFB2 TGFB1 CCL2
39 11.65 TGFB2 TGFB1 FGF2
40 11.64 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
41 11.63 VTN TIMP1 SPARC FN1
42 11.59 VTN TGFB2 TGFB1 SPARC
43 11.5 TGFB2 TGFB1 FN1 FGF2
44 11.49 THBS1 TGFB2 TGFB1 HGF CCL2
45 11.48 VTN FN1 FGF2
46 11.48 TGFB1 HGF FGF2 FGF1
47 11.43 TIMP1 TGFB1 HGF FGF2 FGF1 CCL2
48 11.32 VTN THBS1 FN1
49 11.28 THBS1 FN1 FGF2
50 11.26 TGFB2 TGFB1 HGF

GO Terms for Vitreoretinopathy, Neovascular Inflammatory

Cellular components related to Vitreoretinopathy, Neovascular Inflammatory according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.93 VTN TIMP1 THBS1 TGFB2 TGFB1 SPARC
2 collagen-containing extracellular matrix GO:0062023 9.8 VTN THBS1 TGFB2 TGFB1 SPARC FN1
3 extracellular matrix GO:0031012 9.8 VTN TIMP1 THBS1 TGFB1 SPARC FN1
4 extracellular space GO:0005615 9.73 VTN TIMP1 THBS1 TGFB2 TGFB1 SPARC
5 basement membrane GO:0005604 9.67 VTN TIMP1 SPARC FN1
6 blood microparticle GO:0072562 9.63 VTN TGFB1 FN1
7 platelet alpha granule GO:0031091 9.43 THBS1 SPARC
8 fibrinogen complex GO:0005577 9.4 THBS1 FN1
9 platelet alpha granule lumen GO:0031093 9.17 TIMP1 THBS1 TGFB2 TGFB1 SPARC HGF

Biological processes related to Vitreoretinopathy, Neovascular Inflammatory according to GeneCards Suite gene sharing:

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.95 TGFB2 TGFB1 SPARC ADM
2 positive regulation of cell migration GO:0030335 9.95 THBS1 TGFB1 HGF FGF1
3 cell migration GO:0016477 9.93 VTN THBS1 TGFB2 TGFB1
4 angiogenesis GO:0001525 9.89 TGFB2 FN1 FGF2 FGF1 CCL2
5 response to hypoxia GO:0001666 9.88 THBS1 TGFB2 TGFB1 ADM
6 MAPK cascade GO:0000165 9.88 TGFB1 HGF FGF2 FGF1 CCL2
7 cell cycle arrest GO:0007050 9.87 THBS1 TGFB2 TGFB1
8 negative regulation of angiogenesis GO:0016525 9.87 THBS1 TGFB2 SPARC
9 positive regulation of protein kinase B signaling GO:0051897 9.85 THBS1 TGFB1 HGF FGF2 FGF1
10 cytokine-mediated signaling pathway GO:0019221 9.85 TIMP1 TGFB1 HGF FN1 FGF2 CCL2
11 response to organic substance GO:0010033 9.84 TIMP1 TGFB1 ADM
12 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.84 VTN TGFB1 HGF
13 neural tube closure GO:0001843 9.83 TGFB2 TGFB1 ADM
14 positive regulation of angiogenesis GO:0045766 9.83 THBS1 HGF FGF2 FGF1 ADM
15 positive regulation of MAP kinase activity GO:0043406 9.81 TGFB1 FGF2 FGF1
16 cellular response to growth factor stimulus GO:0071363 9.81 THBS1 TGFB1 SPARC
17 activation of MAPK activity GO:0000187 9.81 THBS1 HGF FGF2 FGF1
18 inner ear development GO:0048839 9.8 TGFB2 TGFB1 SPARC
19 extracellular matrix organization GO:0030198 9.8 VTN THBS1 SPARC GFAP FN1 FGF2
20 positive regulation of endothelial cell migration GO:0010595 9.77 THBS1 SPARC FGF1
21 positive regulation of blood vessel endothelial cell migration GO:0043536 9.77 THBS1 TGFB1 FGF2
22 positive regulation of cell proliferation GO:0008284 9.76 TIMP1 THBS1 TGFB2 TGFB1 FN1 FGF2
23 animal organ regeneration GO:0031100 9.75 TGFB1 HGF ADM
24 cell proliferation GO:0008283 9.74 VTN TGFB1 FGF1
25 negative regulation of blood vessel endothelial cell migration GO:0043537 9.73 THBS1 TGFB1 FGF2
26 epithelial to mesenchymal transition GO:0001837 9.72 TGFB2 TGFB1 HGF
27 positive regulation of cell division GO:0051781 9.71 TGFB2 TGFB1 FGF2 FGF1
28 cell-cell junction organization GO:0045216 9.7 TGFB2 TGFB1
29 positive regulation of endothelial cell apoptotic process GO:2000353 9.7 THBS1 CCL2
30 response to progesterone GO:0032570 9.7 THBS1 TGFB2 TGFB1
31 hyaluronan catabolic process GO:0030214 9.69 TGFB1 FGF2
32 positive regulation of DNA biosynthetic process GO:2000573 9.68 HGF FGF2
33 positive regulation of chemotaxis GO:0050921 9.68 THBS1 TGFB1
34 negative regulation of immune response GO:0050777 9.68 TGFB2 TGFB1
35 pathway-restricted SMAD protein phosphorylation GO:0060389 9.68 TGFB2 TGFB1
36 positive regulation of fibroblast migration GO:0010763 9.67 THBS1 TGFB1
37 cell activation GO:0001775 9.67 TIMP1 TGFB1
38 salivary gland morphogenesis GO:0007435 9.66 TGFB2 TGFB1
39 response to wounding GO:0009611 9.65 TGFB2 TGFB1 GFAP FN1 ADM
40 heart valve morphogenesis GO:0003179 9.64 TGFB2 TGFB1
41 neuron projection regeneration GO:0031102 9.62 GFAP ADM
42 negative regulation of macrophage cytokine production GO:0010936 9.61 TGFB2 TGFB1
43 connective tissue replacement involved in inflammatory response wound healing GO:0002248 9.61 TIMP1 TGFB1
44 regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000544 9.54 FGF2 FGF1
45 wound healing GO:0042060 9.43 TIMP1 TGFB2 TGFB1 SPARC FN1 FGF2
46 platelet degranulation GO:0002576 9.17 TIMP1 THBS1 TGFB2 TGFB1 SPARC HGF

Molecular functions related to Vitreoretinopathy, Neovascular Inflammatory according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.93 VTN THBS1 TGFB1 HGF GFAP FN1
2 signaling receptor binding GO:0005102 9.8 TGFB2 FN1 CCL2 ADM
3 extracellular matrix structural constituent GO:0005201 9.65 VTN THBS1 FN1
4 cytokine activity GO:0005125 9.65 TIMP1 TGFB2 TGFB1 FGF2 CCL2
5 collagen binding GO:0005518 9.58 VTN SPARC FN1
6 heparin binding GO:0008201 9.55 VTN THBS1 FN1 FGF2 FGF1
7 extracellular matrix binding GO:0050840 9.5 VTN THBS1 SPARC
8 type II transforming growth factor beta receptor binding GO:0005114 9.43 TGFB2 TGFB1
9 growth factor activity GO:0008083 9.43 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
10 type III transforming growth factor beta receptor binding GO:0034714 9.37 TGFB2 TGFB1
11 integrin binding GO:0005178 9.02 VTN THBS1 FN1 FGF2 FGF1

Sources for Vitreoretinopathy, Neovascular Inflammatory

3 CDC
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10 dbSNP
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69 SNOMED-CT via HPO
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