VRNI
MCID: VTR013
MIFTS: 62

Vitreoretinopathy, Neovascular Inflammatory (VRNI)

Categories: Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Vitreoretinopathy, Neovascular Inflammatory

MalaCards integrated aliases for Vitreoretinopathy, Neovascular Inflammatory:

Name: Vitreoretinopathy, Neovascular Inflammatory 57 72 29 13 6 39
Proliferative Vitreoretinopathy 57 12 72 15 17 70
Adniv 57 12 58 72
Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy 12 58 36
Neovascular Inflammatory Vitreoretinopathy 12 15
Vrni 57 72
Pvr 57 72
Vitreoretinopathy, Neovascular Inflammatory, Autosomal Dominant; Adniv 57
Vitreoretinopathy, Neovascular Inflammatory, Autosomal Dominant 57
Neovascular Inflammatory Vitreoretinopathy Autosomal Dominant 72
Proliferative Vitreoretinopathy; Pvr 57
Vitreoretinopathy, Proliferative 44
Proliferative Vitreo-Retinopathy 70
Vitreoretinopathy Proliferative 54
Retinitis Proliferans 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant neovascular inflammatory vitreoretinopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant (11q13)


HPO:

31
vitreoretinopathy, neovascular inflammatory:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:9719
OMIM® 57 193235
KEGG 36 H01798
MeSH 44 D018630
SNOMED-CT 67 232016005
ICD10 via Orphanet 33 H35.2
Orphanet 58 ORPHA329211
UMLS 70 C0242852 C2880931

Summaries for Vitreoretinopathy, Neovascular Inflammatory

UniProtKB/Swiss-Prot : 72 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 microvascular complications of diabetes 5 and macular holes. An important gene associated with Vitreoretinopathy, Neovascular Inflammatory is CAPN5 (Calpain 5), and among its related pathways/superpathways are Innate Immune System and Apoptotic Pathways in Synovial Fibroblasts. The drugs Isotretinoin and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are blindness and abnormal electroretinogram

Disease Ontology : 12 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 CAPN5 on chromosome 11q13.5.

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) (Updated 20-May-2021)

KEGG : 36 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 239)
# Related Disease Score Top Affiliating Genes
1 microvascular complications of diabetes 5 31.4 THBS1 TGFB2 FGF2 CCN2
2 macular holes 31.3 TGFB2 FN1 CCL2 ADM
3 preretinal fibrosis 31.2 TGFB2 GFAP FN1
4 autoimmune uveitis 30.9 TGFB2 CCL2 CAPN5
5 neovascular glaucoma 30.6 TGFB2 FGF2 CAPN5
6 retinal detachment 30.5 TIMP1 TGFB2 TGFB1 GLUL GFAP FGF2
7 myopia 30.4 TIMP2 TIMP1 TGFB2 TGFB1 HGF FGF2
8 corneal neovascularization 30.1 TIMP2 THBS1 FGF2
9 macular degeneration, age-related, 1 29.9 VTN THBS1 TGFB2 GFAP FN1 FGF2
10 pulmonary hypertension 29.9 TIMP1 MALAT1 FN1 FGF2 CCL2 ADM
11 microvascular complications of diabetes 1 29.6 VTN TIMP2 TIMP1 THBS1 TGFB2 MET
12 fibrosarcoma 28.9 VTN TIMP2 TIMP1 THBS1 TGFB1 MALAT1
13 hepatocellular carcinoma 28.4 TIMP2 TIMP1 TGFB2 TGFB1 SPARC MET
14 breast cancer 28.1 VTN TIMP2 TIMP1 THBS1 TGFB2 TGFB1
15 poliomyelitis 11.1
16 cleft palate, isolated 11.0
17 cone-rod dystrophy 2 11.0
18 cleft lip/palate-ectodermal dysplasia syndrome 11.0
19 paralytic poliomyelitis 11.0
20 motor neuron disease 11.0
21 pleomorphic xanthoastrocytoma 11.0
22 anisometropia 10.9
23 postpoliomyelitis syndrome 10.9
24 ovarian cystic teratoma 10.9
25 mature teratoma of the ovary 10.9
26 melanomatosis 10.9
27 bulbar polio 10.9
28 vitreoretinopathy 10.8
29 microvascular complications of diabetes 2 10.7
30 uveitis 10.5
31 macular retinal edema 10.5
32 retinal disease 10.4
33 upper lip cancer 10.4 TGFB2 FGF2
34 keratopathy 10.4
35 yemenite deaf-blind hypopigmentation syndrome 10.3
36 eye disease 10.3
37 cataract 10.3
38 fuchs' heterochromic uveitis 10.3 TGFB2 CCL2
39 chronic erosive gastritis 10.3 MET HGF
40 microvascular complications of diabetes 3 10.3 TGFB1 MALAT1 CCN2
41 spastic paraplegia 3, autosomal dominant 10.3 TGFB2 FN1 CCN2
42 blind hypotensive eye 10.3
43 vitreous detachment 10.3
44 peyronie's disease 10.3 TGFB2 TGFB1 CCL2
45 mesangial proliferative glomerulonephritis 10.3 FN1 FGF2 CCL2
46 nephrogenic systemic fibrosis 10.3 TIMP1 TGFB1 CCN2
47 decubitus ulcer 10.3 TIMP1 FN1 FGF2
48 diabetic macular edema 10.3 GFAP FGF2 CCL2
49 cytokine deficiency 10.3
50 nonspecific interstitial pneumonia 10.3 TGFB1 FGF2 CCL2

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 abnormal electroretinogram 31 HP:0000512
3 retinal detachment 31 HP:0000541
4 uveitis 31 HP:0000554
5 vitreous hemorrhage 31 HP:0007902
6 vitreoretinopathy 31 HP:0007773
7 large hyperpigmented retinal spots 31 HP:0007658
8 posterior retinal neovascularization 31 HP:0007778
9 peripheral retinal neovascularization 31 HP:0030667

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Vitreoretinopathy, Neovascular Inflammatory:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 ADM CCN2 FGF2 FN1 FOS GFAP
2 homeostasis/metabolism MP:0005376 10.38 ADM CCN2 FGF1 FGF2 FN1 FOS
3 growth/size/body region MP:0005378 10.36 CAPN5 CCN2 FN1 FOS GFAP GLUL
4 hematopoietic system MP:0005397 10.31 ADM FGF1 FGF2 FN1 FOS HGF
5 cellular MP:0005384 10.3 ADM CCN2 FGF2 FN1 FOS GFAP
6 immune system MP:0005387 10.27 ADM CAPN5 CCL2 FN1 FOS GFAP
7 mortality/aging MP:0010768 10.21 ADM CAPN5 CCN2 FGF2 FN1 FOS
8 limbs/digits/tail MP:0005371 10.03 CCN2 FN1 FOS MET SPARC TGFB2
9 liver/biliary system MP:0005370 10.01 ADM CCN2 FN1 GLUL HGF MET
10 muscle MP:0005369 9.92 ADM FGF2 FN1 GFAP MET TGFB1
11 neoplasm MP:0002006 9.86 FGF2 FN1 FOS MET SPARC TGFB1
12 normal MP:0002873 9.81 CCN2 FGF1 FN1 FOS GFAP GLUL
13 skeleton MP:0005390 9.65 CCN2 FGF2 FN1 FOS HGF SPARC
14 vision/eye MP:0005391 9.28 CCN2 FGF2 FOS GFAP MET SPARC

Drugs & Therapeutics for Vitreoretinopathy, Neovascular Inflammatory

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

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isotretinoin Approved Phase 4 4759-48-2 5538 5282379
2
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
3
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
4 Hormones Phase 4
5 glucocorticoids Phase 4
6 Hormone Antagonists Phase 4
7 Anti-Inflammatory Agents Phase 4
8 Immunosuppressive Agents Phase 4
9 Immunologic Factors Phase 4
10 Triamcinolone diacetate Phase 4
11 Triamcinolone hexacetonide Phase 4
12 triamcinolone acetonide Phase 4
13 Anesthetics Phase 4
14 Anesthetics, Local Phase 4
15
Colchicine Approved Phase 3 64-86-8 6167 2833
16
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
17
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
18
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
19
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
20
Fluorouracil Approved Phase 3 51-21-8 3385
21
Dalteparin Approved Phase 3 9005-49-6
22
Heparin Approved, Investigational Phase 3 9005-49-6 772 9812414
23
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
24
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
25 Tubulin Modulators Phase 3
26 Antimitotic Agents Phase 3
27 Antiemetics Phase 3
28 Gastrointestinal Agents Phase 3
29 Antineoplastic Agents, Hormonal Phase 3
30 Antirheumatic Agents Phase 2, Phase 3
31 Folic Acid Antagonists Phase 2, Phase 3
32 Vitamin B9 Phase 2, Phase 3
33 Folate Phase 2, Phase 3
34 Vitamin B Complex Phase 2, Phase 3
35 Dermatologic Agents Phase 2, Phase 3
36 Fibrinolytic Agents Phase 3
37 Heparin, Low-Molecular-Weight Phase 3
38 calcium heparin Phase 3
39 Anticoagulants Phase 3
40 Antimetabolites Phase 3
41 Pharmaceutical Solutions Phase 3
42
Bevacizumab Approved, Investigational Phase 2 216974-75-3
43 Antineoplastic Agents, Immunological Phase 2
44 Angiogenesis Inhibitors Phase 2
45
Dipivefrin Approved 52365-63-6 3105
46
Epinephrine Approved, Vet_approved Early Phase 1 51-43-4 5816
47
Racepinephrine Approved Early Phase 1 329-65-7 838
48 Calamus
49 Epinephryl borate Early Phase 1
50 Adrenocorticotropic Hormone Early Phase 1

Interventional clinical trials:

(show all 25)
# 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 Efficacy of Oral Colchicine in Prevention of Proliferative Vitreoretinopathy in Rhegmatogenous Retinal Detachment Unknown status NCT00370201 Phase 3 colchicine
4 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)
5 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
6 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
7 Triamcinolone Acetonide in Silicone-Filled Eyes as Adjunctive Treatment for Proliferative Vitreoretinopathy Completed NCT00373282 Phase 3 Triamcinolone acetonide
8 The Silicone Study Completed NCT00000140 Phase 3 Perfluoropropane;Sulfur Hexafluoride;Silicone Oil
9 Repeated Intra-silicone Oil Injection of Methotrexate for Management of Proliferative Vitreoretinopathy Grade C; A Multi-center Study Recruiting NCT04482543 Phase 2, Phase 3 Methotrexate
10 The GUARD Trial - Part 1: A Phase 3 Clinical Trial of Repeated Intravitreal Injections of ADX-2191 Versus Standard-of-Care for Prevention of Proliferaivie Vitreoretinopathy Recruiting NCT04136366 Phase 3 ADX-2191 (intravitreal methotrexate 0.8%)
11 Prophylactic Intravitreal 5-Fluorouracil and Heparin to Prevent PVR in High-risk Patients With Retinal Detachment. Active, not recruiting NCT02834559 Phase 3 5-fluorouracil and low molecular weight heparin;Placebo
12 Intravitreal Decorin Preventing Proliferative Vitreoretinopathy in Perforating Injuries: a Pilot Study. Completed NCT02865031 Phase 1, Phase 2 Decorin
13 Bevacizumab Against Recurrent Retinal Detachment Completed NCT02192970 Phase 2 Bevacizumab
14 A Multi-Center, Randomized, Sham-Controlled, Phase II Trial Evaluating Intravitreal Aflibercept for the Prevention of Proliferative Vitreoretinopathy Following Macula Off Rhegmatogenous Retinal Detachment Repair (The PREVENT-PVR Trial) Recruiting NCT04580147 Phase 2 Intravitreal aflibercept injection
15 A Phase I, Multicenter, Uncontrolled, Open Label Study Assessing the Efficacy and Safety of a Combination of Systemic and Intravitreal Injections of Methotrexate for the Prevention and Treatment of Proliferative Vitreoretinopathy in Pediatric Patients With RheGmatogenous Retinal DetacHmenT (the SIGHT Study) Not yet recruiting NCT04830878 Phase 1 Methotrexate
16 Evaluation Use Optical Coherence Tomography - Rescan During Dissection of Macular Membranes : Pre and Post Operative Aspects Unknown status NCT02748421
17 Outcomes of Extensive Brilliant Blue G-Assisted Internal Limiting Membrane Peeling in Retinal Detachment With Proliferative Vitreoretinopathy Using 3D Visualization System Completed NCT04490876
18 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
19 Outcomes of Vitrectomy in Pediatric Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT03208205
20 Perfluorocarbone Liquids for Tamponading Lower Retinal Breaks to Achieve Retinal Reattachment in Eyes of Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT04168255
21 An Observational Study of Retinal Function and Structure After Repair of Macula-involving Retinal Detachment Complicated by Proliferative Vitreoretinopathy (RDPVR) Using Adaptive Optics Completed NCT03551574
22 A Prospective Pilot Study Evaluating the Effect of Intravitreal Injection of Bevacizumab on Recurrent Retinal Detachment Due to Proliferative Vitreoretinopathy Completed NCT01860586 Bevacizumab
23 Adrenocorticotropic Hormone for Intraocular Inflammation in Post-operative Proliferative Vitreoretinopathy Patients Recruiting NCT03727776 Early Phase 1 Adrenocorticotropic Hormone
24 Early Prevention Strategies of Severe Proliferative Vitreoretinopathy Base on Precision Diagnosis of Single Cell Sequencing Not yet recruiting NCT04520789
25 Molecular Taxonomy of Surgically-harvested Ocular Tissues Defined by Single-cell Transcriptomics Not yet recruiting NCT04682054

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:

40
Eye, Retina, Endothelial, Lung, Skin, Myeloid, Heart

Publications for Vitreoretinopathy, Neovascular Inflammatory

Articles related to Vitreoretinopathy, Neovascular Inflammatory:

(show top 50) (show all 2664)
# Title Authors PMID Year
1
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. 6 57
23055945 2012
2
Autosomal dominant neovascular inflammatory vitreoretinopathy. 6 57
2234842 1990
3
Effect of Smad7 gene overexpression on transforming growth factor beta-induced retinal pigment fibrosis in a proliferative vitreoretinopathy mouse model. 61 57
17502504 2007
4
Tissue transglutaminase as a modifying enzyme of the extracellular matrix in PVR membranes. 57 61
12506096 2003
5
CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model. 57
25994508 2015
6
Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. 57
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. 54 61
20238043 2010
8
Connective tissue growth factor as a mediator of intraocular fibrosis. 54 61
18450591 2008
9
Troglitazone suppresses transforming growth factor beta-mediated fibrogenesis in retinal pigment epithelial cells. 54 61
18253093 2008
10
Functional characteristics of connective tissue growth factor on vitreoretinal cells. 61 54
17303801 2007
11
Stage specificity of novel growth factor expression during development of proliferative vitreoretinopathy. 61 54
16531976 2007
12
Expression of angiogenic and fibrogenic factors in proliferative vitreoretinal disorders. 54 61
17375263 2007
13
Antisense oligonucleotide targeting c-fos mRNA limits retinal pigment epithelial cell proliferation: a key step in the progression of proliferative vitreoretinopathy. 61 54
16973160 2006
14
Association of connective tissue growth factor with fibrosis in vitreoretinal disorders in the human eye. 61 54
17030714 2006
15
Chemokines in proliferative diabetic retinopathy and proliferative vitreoretinopathy. 54 61
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. 54 61
16563380 2006
17
Intraretinal immunohistochemistry findings in proliferative vitreoretinopathy with retinal shortening. 54 61
16679807 2006
18
High TGF-beta2 levels during primary retinal detachment may protect against proliferative vitreoretinopathy. 54 61
15505063 2004
19
Glial cell expression of hepatocyte growth factor in vitreoretinal proliferative disease. 54 61
15156160 2004
20
[Expression of adrenomedullin and adrenomedullin receptor in the epiretinal membranes of proliferative vitreoretinopathy]. 61 54
15312626 2004
21
[Expression of TGF-beta receptor II in periretinal membranes of proliferative vitreoretinopathy]. 54 61
14740555 2003
22
Tenascin-C levels in the vitreous of patients with proliferative vitreoretinopathy. 54 61
14573976 2003
23
Effects of the matricellular protein SPARC on human retinal pigment epithelial cell behavior. 61 54
12655283 2003
24
MAP kinase and beta-catenin signaling in HGF induced RPE migration. 54 61
12500177 2002
25
The role of matricellular proteins thrombospondin-1 and osteonectin during RPE cell migration in proliferative vitreoretinopathy. 54 61
12658547 2002
26
Elevated immunoreactive-adrenomedullin levels in the aqueous humor of patients with uveitis and vitreoretinal disorders. 61 54
12383875 2002
27
Basic fibroblast growth factor, glutamine synthetase, and interleukin-6 in vitreous fluid from eyes with retinal detachment complicated by proliferative vitreoretinopathy. 54 61
12208248 2002
28
Non-paralleled increase of hepatocyte growth factor and vascular endothelial growth factor in the eyes with angiogenic and nonangiogenic fibroproliferation. 54 61
11834884 2002
29
[A study of different intracellular signal transduction pathways on phagocytosis of fibronectin by retinal pigment epithelial cells]. 61 54
11864408 2001
30
Transforming growth factor-beta1 induces alpha-smooth muscle actin expression and fibronectin synthesis in cultured human retinal pigment epithelial cells. 61 54
11272783 2001
31
[Electron-immunostaining characteristics of platelet-derived growth factor, transforming growth factor beta1 and their receptors in epiretinal membranes]. 61 54
11853632 2000
32
Hepatocyte growth factor levels in the vitreous of patients with proliferative vitreoretinopathy. 61 54
10844070 2000
33
mRNA expression of proto-oncogenes and platelet-derived growth factor in proliferative vitreoretinal diseases. 61 54
10913653 2000
34
Quantitative study of basic fibroblast growth factor in vitreous with proliferative vitreoretinopathy. 61 54
12579721 2000
35
Platelet-derived growth factor and basic fibroblast growth factor immunolocalized in proliferative retinal diseases. 54 61
11775539 2000
36
Elevated adrenomedullin in the vitreous of patients with proliferative vitreoretinopathy. 54 61
10612519 1999
37
[Effects of epidermal growth factor, basic fibroblast growth factor and 5-fluorouracil on human retinal pigment epithelial wound closure in vitro]. 61 54
11835794 1999
38
Hepatocyte growth factor receptor in human RPE cells: implications in proliferative vitreoretinopathy. 61 54
9888438 1999
39
TIMP-1 and TIMP-2 levels in vitreous and subretinal fluid. 54 61
9822966 1998
40
Platelet derived growth factor and fibroblast growth factor basic levels in the vitreous of patients with vitreoretinal disorders. 54 61
9613386 1998
41
C-C chemokines in the vitreous of patients with proliferative vitreoretinopathy and proliferative diabetic retinopathy. 54 61
9869464 1998
42
Monocyte chemotactic protein-1 in proliferative vitreoretinal disorders. 61 54
9152065 1997
43
Metalloproteinases and TIMP-1 in proliferative vitreoretinopathy. 61 54
9191278 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. 61 54
9112977 1997
45
Basic fibroblast growth factor mRNA, bFGF peptide and FGF receptor in epiretinal membranes of intraocular proliferative disorders (PVR and PDR). 54 61
9237137 1996
46
Cytokines in proliferative diabetic retinopathy and proliferative vitreoretinopathy. 61 54
8585935 1995
47
Transforming growth factor-beta regulates human retinal pigment epithelial cell phagocytosis by influencing a protein kinase C-dependent pathway. 61 54
7531168 1994
48
The significance of vitronectin in proliferative diabetic retinopathy. 61 54
7523258 1994
49
Cytokine effect on fibronectin release by retinal pigment epithelial cells. 54 61
7956309 1994
50
The role of fibronectin, laminin, vitronectin and their receptors on cellular adhesion in proliferative vitreoretinopathy. 54 61
7514582 1994

Variations for Vitreoretinopathy, Neovascular Inflammatory

ClinVar genetic disease variations for Vitreoretinopathy, Neovascular Inflammatory:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAPN5 NM_004055.5(CAPN5):c.728G>T (p.Arg243Leu) SNV Pathogenic 39806 rs397514601 GRCh37: 11:76826469-76826469
GRCh38: 11:77115423-77115423
2 CAPN5 NM_004055.5(CAPN5):c.731T>C (p.Leu244Pro) SNV Pathogenic 39807 rs397514602 GRCh37: 11:76826472-76826472
GRCh38: 11:77115426-77115426
3 CAPN5 NM_004055.5(CAPN5):c.750G>C (p.Lys250Asn) SNV Pathogenic 869153 GRCh37: 11:76826491-76826491
GRCh38: 11:77115445-77115445
4 CAPN5 NM_004055.5(CAPN5):c.865C>T (p.Arg289Trp) SNV Pathogenic 279987 rs886041303 GRCh37: 11:76826606-76826606
GRCh38: 11:77115560-77115560
5 CAPN5 NM_004055.5(CAPN5):c.1894C>A (p.Leu632Ile) SNV Likely benign 522331 rs111264315 GRCh37: 11:76834887-76834887
GRCh38: 11:77123841-77123841

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

72
# 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 69)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.07 VTN TIMP2 TIMP1 TGFB1 MET HGF
2
Show member pathways
13.89 VTN TIMP2 TIMP1 TGFB2 TGFB1 MET
3
Show member pathways
13.85 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
4
Show member pathways
13.75 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
5
Show member pathways
13.61 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
6
Show member pathways
13.58 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
7
Show member pathways
13.45 VTN THBS1 TGFB2 TGFB1 FOS FN1
8
Show member pathways
13.45 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
9
Show member pathways
13.42 TIMP1 TGFB1 MET HGF FOS FN1
10
Show member pathways
13.39 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
11
Show member pathways
13.35 TIMP1 THBS1 TGFB2 TGFB1 SPARC HGF
12
Show member pathways
13.34 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
13
Show member pathways
13.32 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
14
Show member pathways
13.12 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
15
Show member pathways
13.05 VTN THBS1 MET HGF FN1 FGF2
16
Show member pathways
13.03 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
17
Show member pathways
12.97 VTN THBS1 MET HGF FOS FN1
18 12.91 TGFB2 TGFB1 MET HGF FOS FN1
19
Show member pathways
12.87 VTN TGFB1 MET HGF FOS
20 12.83 TGFB2 TGFB1 MET HGF FOS FGF2
21
Show member pathways
12.83 TGFB2 TGFB1 MET HGF FOS FGF2
22
Show member pathways
12.77 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
23
Show member pathways
12.76 THBS1 MET HGF FGF2 FGF1
24
Show member pathways
12.72 MET HGF FOS FGF2 FGF1
25
Show member pathways
12.63 TIMP1 FOS FN1 FGF2 CCL2
26
Show member pathways
12.61 VTN TIMP2 TIMP1 THBS1 TGFB2 TGFB1
27
Show member pathways
12.58 VTN THBS1 TGFB1 MET HGF FGF2
28
Show member pathways
12.5 MET HGF FOS FGF2
29 12.41 MET HGF FGF2 FGF1
30 12.35 VTN THBS1 TGFB2 TGFB1 MET HGF
31
Show member pathways
12.33 TIMP1 FOS FN1 CCL2
32
Show member pathways
12.32 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
33 12.28 TGFB2 TGFB1 SPARC CCN2
34
Show member pathways
12.23 TIMP2 TIMP1 TGFB2 TGFB1 MET HGF
35 12.2 TGFB2 TGFB1 FGF1 CCN2
36 12.15 THBS1 TGFB1 MET FOS FN1
37 12.13 TGFB1 MET HGF FGF2
38 12.08 TIMP1 TGFB1 HGF FOS FN1 FGF2
39 12.07 TGFB1 GFAP FOS CCL2
40 12.03 VTN THBS1 TGFB1 SPARC FN1
41 11.99 TGFB2 TGFB1 FN1 CCL2
42 11.97 TGFB2 TGFB1 SPARC FN1 FGF2
43 11.95 TGFB2 TGFB1 FOS CCL2
44 11.93 TGFB2 TGFB1 FN1
45 11.9 TGFB2 TGFB1 FOS
46 11.89 THBS1 TGFB2 TGFB1
47 11.81 TGFB2 TGFB1 MET HGF
48 11.8 TIMP2 TIMP1 TGFB2 TGFB1 HGF FGF2
49
Show member pathways
11.77 VTN TGFB2 TGFB1
50 11.73 VTN TIMP2 TIMP1 SPARC FN1

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 10.03 VTN TIMP2 TIMP1 THBS1 TGFB2 TGFB1
2 extracellular matrix GO:0031012 9.87 TIMP2 TIMP1 THBS1 TGFB1 FN1 FGF1
3 collagen-containing extracellular matrix GO:0062023 9.86 VTN TIMP2 THBS1 TGFB2 TGFB1 SPARC
4 cell surface GO:0009986 9.85 TIMP2 THBS1 TGFB1 SPARC MET CAPN5
5 extracellular space GO:0005615 9.8 VTN TIMP2 TIMP1 THBS1 TGFB2 TGFB1
6 basement membrane GO:0005604 9.63 TIMP1 SPARC FN1
7 platelet alpha granule GO:0031091 9.48 THBS1 SPARC
8 glial cell projection GO:0097386 9.43 GLUL GFAP
9 fibrinogen complex GO:0005577 9.4 THBS1 FN1
10 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 top 50) (show all 63)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.11 TGFB1 FN1 FGF2 FGF1 CCN2
2 inflammatory response GO:0006954 10.08 THBS1 TGFB1 FOS CCL2 ADM
3 response to drug GO:0042493 10.03 TIMP2 THBS1 TGFB2 TGFB1 FOS
4 positive regulation of cell migration GO:0030335 10.02 THBS1 TGFB1 HGF FGF1
5 heart development GO:0007507 10.02 TGFB2 TGFB1 SPARC FN1 ADM
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 10 TGFB1 FGF2 CCN2 CCL2
7 MAPK cascade GO:0000165 10 TGFB1 MET HGF FGF2 FGF1 CCL2
8 positive regulation of protein phosphorylation GO:0001934 9.99 TGFB1 HGF FGF2 FGF1 CCN2
9 cell migration GO:0016477 9.99 VTN THBS1 TGFB2 TGFB1 MET CCN2
10 response to hypoxia GO:0001666 9.98 THBS1 TGFB2 TGFB1 ADM
11 positive regulation of angiogenesis GO:0045766 9.96 THBS1 HGF FGF2 FGF1 ADM
12 extracellular matrix organization GO:0030198 9.95 VTN THBS1 SPARC GFAP FN1 FGF2
13 angiogenesis GO:0001525 9.93 GLUL FN1 FGF2 FGF1 CCN2 CCL2
14 activation of MAPK activity GO:0000187 9.92 THBS1 HGF FGF2 FGF1
15 cell-matrix adhesion GO:0007160 9.91 VTN FN1 CCN2
16 lung development GO:0030324 9.91 SPARC FGF2 FGF1 CCN2
17 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.91 TGFB2 HGF FN1 FGF2
18 positive regulation of cell proliferation GO:0008284 9.91 TIMP1 THBS1 TGFB2 TGFB1 FN1 FGF2
19 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.9 VTN TGFB1 HGF
20 female pregnancy GO:0007565 9.9 TGFB1 FOS ADM
21 cell morphogenesis GO:0000902 9.9 TGFB2 TGFB1 HGF
22 response to organic substance GO:0010033 9.9 TIMP2 TIMP1 TGFB1 ADM
23 neural tube closure GO:0001843 9.89 TGFB2 TGFB1 ADM
24 fibroblast growth factor receptor signaling pathway GO:0008543 9.89 FGF2 FGF1 CCN2
25 response to glucose GO:0009749 9.88 THBS1 TGFB1 GLUL CCN2
26 positive regulation of endothelial cell migration GO:0010595 9.88 THBS1 SPARC FGF2 FGF1
27 positive regulation of protein kinase B signaling GO:0051897 9.88 THBS1 TGFB1 MET HGF FGF2 FGF1
28 SMAD protein signal transduction GO:0060395 9.87 TGFB2 TGFB1 FOS
29 response to peptide hormone GO:0043434 9.87 TIMP1 SPARC CCN2
30 positive regulation of epithelial cell proliferation GO:0050679 9.87 TGFB1 GLUL FGF2 FGF1
31 cytokine-mediated signaling pathway GO:0019221 9.87 TIMP1 TGFB1 HGF FOS FN1 FGF2
32 positive regulation of MAP kinase activity GO:0043406 9.86 TGFB1 FGF2 FGF1
33 inner ear development GO:0048839 9.86 TGFB2 TGFB1 SPARC
34 positive regulation of blood vessel endothelial cell migration GO:0043536 9.85 THBS1 TGFB1 FGF2
35 response to cytokine GO:0034097 9.85 TIMP2 TIMP1 SPARC FOS
36 aging GO:0007568 9.85 TIMP2 TIMP1 TGFB1 FOS CCN2 ADM
37 positive regulation of cell division GO:0051781 9.84 TGFB2 TGFB1 FGF2 FGF1
38 positive chemotaxis GO:0050918 9.83 MET HGF FGF2
39 negative regulation of blood vessel endothelial cell migration GO:0043537 9.83 THBS1 TGFB1 FGF2
40 animal organ regeneration GO:0031100 9.82 TGFB1 HGF ADM
41 epithelial to mesenchymal transition GO:0001837 9.82 TGFB2 TGFB1 HGF
42 response to progesterone GO:0032570 9.8 THBS1 TGFB2 TGFB1 FOS
43 positive regulation of DNA biosynthetic process GO:2000573 9.73 HGF FGF2
44 positive regulation of fibroblast migration GO:0010763 9.73 THBS1 TGFB1
45 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.73 TGFB2 TGFB1 FOS FGF2
46 pathway-restricted SMAD protein phosphorylation GO:0060389 9.72 TGFB2 TGFB1
47 hepatocyte growth factor receptor signaling pathway GO:0048012 9.72 MET HGF
48 cell activation GO:0001775 9.72 TIMP1 TGFB1
49 positive regulation of endothelial cell chemotaxis GO:2001028 9.71 MET FGF2
50 response to gravity GO:0009629 9.71 SPARC FOS

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.01 THBS1 TGFB1 MET HGF GLUL GFAP
2 cytokine activity GO:0005125 9.65 TIMP1 TGFB2 TGFB1 FGF2 CCL2
3 heparin binding GO:0008201 9.63 VTN THBS1 FN1 FGF2 FGF1 CCN2
4 extracellular matrix structural constituent GO:0005201 9.62 VTN THBS1 SPARC FN1
5 growth factor activity GO:0008083 9.5 TIMP1 TGFB2 TGFB1 HGF FGF2 FGF1
6 proteoglycan binding GO:0043394 9.46 THBS1 FN1
7 type II transforming growth factor beta receptor binding GO:0005114 9.43 TGFB2 TGFB1
8 type III transforming growth factor beta receptor binding GO:0034714 9.37 TGFB2 TGFB1
9 integrin binding GO:0005178 9.23 VTN TIMP2 THBS1 GFAP FN1 FGF2

Sources for Vitreoretinopathy, Neovascular Inflammatory

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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