MCID: VTR007
MIFTS: 46

Vitreoretinopathy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Vitreoretinopathy

MalaCards integrated aliases for Vitreoretinopathy:

Name: Vitreoretinopathy 58 29 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

Orphanet 58 ORPHA98668

Summaries for Vitreoretinopathy

MalaCards based summary : Vitreoretinopathy is related to wagner syndrome and exudative vitreoretinopathy 1. An important gene associated with Vitreoretinopathy is TSPAN12 (Tetraspanin 12), and among its related pathways/superpathways are ERK Signaling and Transcription Androgen Receptor nuclear signaling. 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 cardiovascular system and hearing/vestibular/ear

Related Diseases for Vitreoretinopathy

Diseases in the Vitreoretinopathy family:

Vcan-Related Vitreoretinopathy

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

(show top 50) (show all 171)
# Related Disease Score Top Affiliating Genes
1 wagner syndrome 32.9 VCAN-AS1 VCAN COL2A1
2 exudative vitreoretinopathy 1 32.4 ZNF408 TSPAN12 PRSS23 NDP LRP5 IL6
3 exudative vitreoretinopathy 30.9 ZNF408 TSPAN12 RCBTB1 PRSS23 NDP-AS1 NDP
4 vitreoretinal degeneration 30.4 VCAN COL2A1
5 norrie disease 30.2 ZNF408 TSPAN12 NDP LRP5 FZD4 CTNNB1
6 persistent hyperplastic primary vitreous 30.2 TSPAN12 NDP LRP5 FZD4
7 retinal vascular disease 30.0 ZNF408 TSPAN12 NDP LRP5 IL6 FZD4
8 osteoporosis-pseudoglioma syndrome 30.0 NDP LRP5 FZD4 CTNNB1
9 leukocoria 29.9 ZNF408 TSPAN12 NDP LRP5 FZD4
10 retinal detachment 29.6 ZNF408 TSPAN12 NDP LRP5 IL6 FZD4
11 retinal degeneration 29.5 COL2A1 CDH23 CAPN5 ABCA4
12 coats disease 29.5 ZNF408 TSPAN12 RCBTB1 NDP LRP5 FZD4
13 congenital toxoplasmosis 29.1 COL2A1 ABCA4
14 osteoporosis 28.7 NDP LRP5 IL6 FZD4 CTNNB1 COL2A1
15 vitreoretinopathy, neovascular inflammatory 12.9
16 exudative vitreoretinopathy 2, x-linked 12.7
17 wagner vitreoretinopathy 12.7
18 exudative vitreoretinopathy 4 12.7
19 exudative vitreoretinopathy 5 12.7
20 exudative vitreoretinopathy 6 12.7
21 exudative vitreoretinopathy 3 12.6
22 exudative vitreoretinopathy 7 12.6
23 vcan-related vitreoretinopathy 12.3
24 syndromic vitreoretinopathy 12.1
25 isolated vitreoretinopathy 12.1
26 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.5
27 microvascular complications of diabetes 5 10.7
28 microvascular complications of diabetes 1 10.7
29 microvascular complications of diabetes 2 10.7
30 macular holes 10.7
31 uveitis 10.6
32 yemenite deaf-blind hypopigmentation syndrome 10.5
33 myopia 10.5
34 macular retinal edema 10.5
35 retinal disease 10.5
36 cataract 10.5
37 eye disease 10.5
38 ndp-related retinopathies 10.4
39 preretinal fibrosis 10.4
40 vitreous detachment 10.4
41 keratopathy 10.3
42 microcephaly 10.3
43 neovascular glaucoma 10.3
44 blind hypotensive eye 10.3
45 persistent hyperplastic primary vitreous, autosomal recessive 10.3
46 intraocular pressure quantitative trait locus 10.3
47 cytokine deficiency 10.3
48 retinoblastoma 10.2
49 vascular disease 10.2
50 familial retinoblastoma 10.2

Graphical network of the top 20 diseases related to Vitreoretinopathy:



Diseases related to Vitreoretinopathy

Symptoms & Phenotypes for Vitreoretinopathy

MGI Mouse Phenotypes related to Vitreoretinopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 ABCA4 COL2A1 CTNNB1 FZD4 IL6 LRP5
2 hearing/vestibular/ear MP:0005377 9.73 CDH23 COL2A1 CTNNB1 FZD4 NDP TSPAN12
3 skeleton MP:0005390 9.56 ABCA4 CDH23 COL2A1 CTNNB1 IL6 LRP5
4 pigmentation MP:0001186 9.55 ABCA4 CTNNB1 FZD4 LRP5 NDP
5 vision/eye MP:0005391 9.28 ABCA4 CDH23 COL2A1 CTNNB1 FZD4 IL6

Drugs & Therapeutics for Vitreoretinopathy

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

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isotretinoin Approved Phase 4 4759-48-2 5538 5282379
2
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
3 Dermatologic Agents Phase 4
4 Anesthetics, Local Phase 4
5 Anesthetics Phase 4
6
Colchicine Approved Phase 3 64-86-8 6167 2833
7
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
8
Dalteparin Approved Phase 3 9005-49-6
9
Fluorouracil Approved Phase 3 51-21-8 3385
10
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
11
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
12
leucovorin Approved Phase 3 58-05-9 6006 143
13
Ranibizumab Approved Phase 3 347396-82-1 459903
14
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
15
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
16
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
17 Antimitotic Agents Phase 3
18 Antirheumatic Agents Phase 3
19 Fibrinolytic Agents Phase 3
20 Heparin, Low-Molecular-Weight Phase 3
21 Anti-Inflammatory Agents Phase 3
22 Hormone Antagonists Phase 3
23 Anticoagulants Phase 3
24 Calcium, Dietary Phase 3
25 calcium heparin Phase 3
26 glucocorticoids Phase 3
27 Hormones Phase 3
28 Angiogenesis Inhibitors Phase 3
29 Triamcinolone diacetate Phase 3
30 Immunologic Factors Phase 3
31 Triamcinolone hexacetonide Phase 3
32 triamcinolone acetonide Phase 3
33 Immunosuppressive Agents Phase 3
34 Folic Acid Antagonists Phase 3
35 Vitamin B Complex Phase 3
36 Vitamin B9 Phase 3
37 Folate Phase 3
38 Antimetabolites Phase 3
39 Pharmaceutical Solutions Phase 3
40
Bevacizumab Approved, Investigational Phase 2 216974-75-3
41 Antineoplastic Agents, Immunological Phase 2
42
Timolol Approved 26839-75-8 33624 5478
43
Dorzolamide Approved 120279-96-1 3154 5284549
44
Bimatoprost Approved, Investigational 155206-00-1 5311027
45
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
46
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
47
Epinephrine Approved, Vet_approved Early Phase 1 51-43-4 5816
48
Racepinephrine Approved Early Phase 1 329-65-7 838
49
Povidone Approved 9003-39-8
50
Iodine Approved, Investigational 7553-56-2 807

Interventional clinical trials:

(show all 38)
# 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 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
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 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%)
13 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
14 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
15 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
16 Intravitreal Decorin Preventing Proliferative Vitreoretinopathy in Perforating Injuries: a Pilot Study. Completed NCT02865031 Phase 1, Phase 2 Decorin
17 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
18 Bevacizumab Against Recurrent Retinal Detachment Active, not recruiting NCT02192970 Phase 2 Bevacizumab
19 Evaluation Use Optical Coherence Tomography - Rescan During Dissection of Macular Membranes : Pre and Post Operative Aspects Unknown status NCT02748421
20 Comparison of Two Techniques for Epiretinal or Internal Limiting Membrane Peel. Unknown status NCT00892619
21 Double Endotamponade With Perfluorodecalin and Silicone Oil in Retinal Detachment Surgery: Randomised Clinical Trial of Safety Unknown status NCT01959568
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 Outcomes of Vitrectomy in Pediatric Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT03208205
24 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
25 Perfluorocarbone Liquids for Tamponading Lower Retinal Breaks to Achieve Retinal Reattachment in Eyes of Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT04168255
26 Comparison of Vitrectomy Without Internal Limiting Membrane Peeling Versus Inverted ILM Flap Technique for Macular Hole Retinal Detachment in Highly Myopic Eyes Completed NCT04011007
27 Familial Exudative Vitreoretinopathy Clinical and Molecular Studies Completed NCT00106756
28 Emulsification of Different Viscosity Silicone Oil After Complicated Retinal Detachment Surgery: A Randomized Double-masked Clinical Trial Completed NCT02988583
29 The Influence of Silicone Oil on Nerve Fiber Layer Thickness After Pars Plana Vitrectomy Completed NCT01255306 Local medical treatment of raised intraocular pressure
30 Plasma Levels of Matrix Metalloproteinases and Degree of DNA Fragmentation in Patients With Pseudoexfoliation Syndrome and Open-Angle Glaucoma (PEXG) Completed NCT00327613
31 Adrenocorticotropic Hormone for Intraocular Inflammation in Post-operative Proliferative Vitreoretinopathy Patients Recruiting NCT03727776 Early Phase 1 Adrenocorticotropic Hormone
32 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
33 Visual Outcome Evaluation and Genetic Analysis: Shanghai High Myopia Study Recruiting NCT03062085
34 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 Recruiting NCT02871531
35 Silicone Oil Versus Long-acting Gas Tamponade in Proliferative Diabetic Retinopathy Patients With High-grade Vitreoretinal Adhesion Undergoing Vitrectomy Recruiting NCT03660384
36 Pro-permeability and Pro-fibrosis Factors in the Aqueous of Patients With Retinal Diseases Recruiting NCT02688309 Ozurdex
37 Surgical Retinotomy for the Treatment of Glaucoma Not yet recruiting NCT03798145
38 A Randomized controllEd Trial Comparing Pneumatic Retinopexy Versus Pars plAna Vitrectomy for the Management of Primary Retinal Detachment: Retinal Displacement Rates and Impact on Patient Quality of Life: The REVEAL Study Not yet recruiting NCT04158622

Search NIH Clinical Center for Vitreoretinopathy

Genetic Tests for Vitreoretinopathy

Genetic tests related to Vitreoretinopathy:

# Genetic test Affiliating Genes
1 Vitreoretinopathy 29

Anatomical Context for Vitreoretinopathy

MalaCards organs/tissues related to Vitreoretinopathy:

40
Eye, Retina, Endothelial, Bone, Monocytes, Smooth Muscle, Cortex

Publications for Vitreoretinopathy

Articles related to Vitreoretinopathy:

(show top 50) (show all 3055)
# Title Authors PMID Year
1
Bilateral rhegmatogenous retinal detachments from giant retinal tears in an infant with abusive head trauma and Stickler syndrome. 61
31909295 2020
2
The effect of infliximab and octreotide on cytokine levels experimental proliferative vitreoretinopathy. 61
31809602 2020
3
Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature. 61
32039639 2020
4
[Retinal detachment in children and adolescents. Specific clinical features]. 61
31321489 2020
5
ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY FOR RETINAL DETACHMENT WITH PROLIFERATIVE VITREORETINOPATHY. 61
32032288 2020
6
Protein Kinase A Inhibitor H89 Attenuates Experimental Proliferative Vitreoretinopathy. 61
32031573 2020
7
Indications, Findings, and Outcomes of Pars Plana Vitrectomy after Open Globe Injury. 61
31732470 2020
8
Proliferative vitreoretinopathy: revised concepts of pathogenesis and adjunctive treatment. 61
31776451 2020
9
KRT8 phosphorylation regulates the epithelial-mesenchymal transition in retinal pigment epithelial cells through autophagy modulation. 61
32022439 2020
10
A brief review of the histopathology of proliferative vitreoretinopathy (PVR). 61
31792351 2020
11
Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India. 61
31999491 2020
12
Pediatric Idiopathic Basal Ganglia Calcification and Spherocytosis With Chromosome 8p11 Deletion. 61
31913475 2020
13
Outcomes of surgery in eyes with familial exudative vitreoretinopathyassociated retinal detachment. 61
31941588 2020
14
Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1. 61
31607522 2020
15
COMPARISON BETWEEN RELEASABLE SCLERAL BUCKLING AND VITRECTOMY IN PATIENTS WITH PHAKIC PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT. 61
30300265 2020
16
SURGICAL OUTCOMES OF 25-GAUGE PARS PLANA VITRECTOMY USING AIR AS AN INTERNAL TAMPONADE FOR PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT. 61
31922498 2020
17
Microscope-Assisted ab externo Surgery for the Treatment of Primary Rhegmatogenous Retinal Detachment - New Tech Meets Old Art. 61
31352453 2020
18
Outcome of relaxing retinectomies in management of failed rhegmatogenous retinal detachment surgery cases with proliferative vitreoretinopathy changes. 61
31992860 2020
19
Idelalisib inhibits vitreous-induced Akt activation and proliferation of retinal pigment epithelial cells from epiretinal membranes. 61
31786159 2020
20
MACULAR HOLE IN A YOUNG PATIENT AFFECTED BY FAMILIAL EXUDATIVE VITREORETINOPATHY. 61
28850050 2020
21
Comparison Between Silicone Oil and Gas in Tamponading Giant Retinal Breaks. 61
32021077 2020
22
Clinical characteristics and visual outcomes of work-related open globe injuries in Japanese patients. 61
31988287 2020
23
The spectrum of genetic mutations in patients with asymptomatic mild familial exudative vitreoretinopathy. 61
31987760 2020
24
Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature. 61
31978232 2020
25
A mouse model for Kinesin Family Member 11 (Kif11)-associated familial exudative vitreoretinopathy. 61
31993640 2020
26
Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy. 61
31273345 2020
27
Melatonin attenuates epidermal growth factor-induced cathepsin S expression in ARPE-19 cells: Implications for proliferative vitreoretinopathy. 61
31605630 2020
28
Comparative Biochemical Outcomes, Effectiveness and Tolerance of Densiron 68 and Oxane HD for the Management of Complicated Retinal Detachment 61
31893589 2019
29
Role of internal limiting membrane peeling in the prevention of epiretinal membrane formation following vitrectomy for retinal detachment: a randomised trial. 61
31843791 2019
30
Retinal re-detachments after removal of silicone oil: Frequency and timings in a retrospective clinical study. 61
31853111 2019
31
REPAIR OF COMBINED TRACTION-RHEGMATOGENOUS RETINAL DETACHMENT AFTER CRYOABLATION OF A RETINAL CAPILLARY HEMANGIOBLASTOMA. 61
31842046 2019
32
ANALYSIS OF TIME TO FAILURE AFTER RETINAL DETACHMENT SURGERY. 61
31851051 2019
33
Factors of Retinal Re-detachment and Visual Outcome after Intraocular Silicone Oil Removal in Silicone Oil-filled Eyes. 61
31744338 2019
34
A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family. 61
31821093 2019
35
Pars plana vitrectomy combined with scleral buckle versus pars plana vitrectomy for giant retinal tear. 61
31840810 2019
36
The Interplay Between E-Cadherin, Connexin 43, and Zona Occludens 1 in Retinal Pigment Epithelial Cells. 61
31826237 2019
37
Frizzled 4 regulates ventral blood vessel remodeling in the zebrafish retina. 61
31566834 2019
38
Blockade of MDM2 with inactive Cas9 prevents epithelial to mesenchymal transition in retinal pigment epithelial cells. 61
31439892 2019
39
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape. 61
31892318 2019
40
Retinal Vascular Abnormalities in Phakomatosis Pigmentovascularis. 61
31420298 2019
41
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials. 61
31403230 2019
42
Exogenous endophthalmitis caused by Enterococcus casseliflavus: A case report. 61
31799321 2019
43
PPV, Retinectomy, and Silicone Oil Without Scleral Buckle for Recurrent RRD From Proliferative Vitreoretinopathy. 61
31755979 2019
44
Comparative study of penetrating keratoplasty and vitreoretinal surgery with Eckardt temporary keratoprosthesis in ocular trauma versus non-trauma patients. 61
31363832 2019
45
INTRAOPERATIVE OCULAR MANOMETRY IN SILICONE OIL-FILLED EYES WITH A BOSTON TYPE 1 KERATOPROSTHESIS. 61
30015766 2019
46
Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy. 61
31748531 2019
47
Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families. 61
31765079 2019
48
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. 61
31077665 2019
49
Role of blue fundus autofluorescence imaging in differentiating Coats disease from familial exudative vitreoretinopathy. 61
31729069 2019
50
Histopathological Changes and Clinical Outcomes following Intervention for Sub-Internal Limiting Membrane Haemorrhage. 61
31743895 2019

Variations for Vitreoretinopathy

ClinVar genetic disease variations for Vitreoretinopathy:

6 (show top 50) (show all 160) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSPAN12 NM_012338.4(TSPAN12):c.100del (p.Trp34fs)deletion Pathogenic 523501 rs1554403767 7:120480130-120480130 7:120840076-120840076
2 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)SNV Pathogenic/Likely pathogenic 99428 rs61750641 1:94471055-94471055 1:94005499-94005499
3 LRRC32 NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter)SNV Likely pathogenic 545640 rs369867819 11:76371007-76371007 11:76659963-76659963
4 LRP5 NM_002335.4(LRP5):c.2090A>G (p.Lys697Arg)SNV Likely pathogenic 560373 rs1565083843 11:68174280-68174280 11:68406812-68406812
5 VCAN NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)SNV Conflicting interpretations of pathogenicity 198801 rs160278 5:82835724-82835724 5:83539905-83539905
6 VCAN NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)SNV Conflicting interpretations of pathogenicity 198796 rs146630369 5:82835589-82835589 5:83539770-83539770
7 VCAN NM_004385.5(VCAN):c.5859G>T (p.Thr1953=)SNV Conflicting interpretations of pathogenicity 167825 rs80028865 5:82834681-82834681 5:83538862-83538862
8 ABCA4 NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)SNV Conflicting interpretations of pathogenicity 7892 rs28938473 1:94473287-94473287 1:94007731-94007731
9 VCAN NM_004385.5(VCAN):c.3103T>G (p.Phe1035Val)SNV Uncertain significance 354413 rs886060821 5:82817228-82817228 5:83521409-83521409
10 VCAN NM_004385.5(VCAN):c.5427C>T (p.His1809=)SNV Uncertain significance 354426 rs779803420 5:82834249-82834249 5:83538430-83538430
11 VCAN NM_004385.5(VCAN):c.6201A>G (p.Glu2067=)SNV Uncertain significance 354434 rs780184359 5:82835023-82835023 5:83539204-83539204
12 VCAN NM_004385.5(VCAN):c.7895C>T (p.Thr2632Ile)SNV Uncertain significance 354450 rs767660495 5:82836717-82836717 5:83540898-83540898
13 VCAN NM_004385.5(VCAN):c.8063C>T (p.Pro2688Leu)SNV Uncertain significance 354453 rs755806449 5:82836885-82836885 5:83541066-83541066
14 VCAN NM_004385.5(VCAN):c.8454G>A (p.Ala2818=)SNV Uncertain significance 354459 rs773474075 5:82837276-82837276 5:83541457-83541457
15 VCAN NM_004385.5(VCAN):c.*883_*885deldeletion Uncertain significance 354481 rs886060832 5:82877136-82877138 5:83581317-83581319
16 VCAN NM_004385.5(VCAN):c.*898_*905delinsGindel Uncertain significance 354482 rs886060833 5:82877151-82877158 5:83581332-83581339
17 VCAN NM_001164097.1(VCAN):c.-334C>TSNV Uncertain significance 354382 rs886060812 5:82767515-82767515 5:83471696-83471696
18 VCAN NM_004385.5(VCAN):c.-89T>CSNV Uncertain significance 354386 rs886060815 5:82767760-82767760 5:83471941-83471941
19 VCAN NM_004385.5(VCAN):c.297G>C (p.Gly99=)SNV Uncertain significance 354389 rs886060817 5:82786143-82786143 5:83490324-83490324
20 VCAN NM_004385.5(VCAN):c.3204C>T (p.Gly1068=)SNV Uncertain significance 354416 rs142805131 5:82817329-82817329 5:83521510-83521510
21 VCAN NM_004385.5(VCAN):c.3264A>G (p.Pro1088=)SNV Uncertain significance 354417 rs767745674 5:82817389-82817389 5:83521570-83521570
22 VCAN NM_004385.5(VCAN):c.5836C>T (p.His1946Tyr)SNV Uncertain significance 354431 rs886060825 5:82834658-82834658 5:83538839-83538839
23 VCAN NM_004385.5(VCAN):c.*2C>TSNV Uncertain significance 354468 rs370984795 5:82876255-82876255 5:83580436-83580436
24 VCAN NM_004385.5(VCAN):c.*446T>CSNV Uncertain significance 354474 rs886060829 5:82876699-82876699 5:83580880-83580880
25 VCAN NM_004385.5(VCAN):c.*881_*883deldeletion Uncertain significance 354480 rs886060831 5:82877134-82877136 5:83581315-83581317
26 VCAN NM_004385.5(VCAN):c.*905A>GSNV Uncertain significance 354484 rs796702160 5:82877158-82877158 5:83581339-83581339
27 VCAN NM_004385.5(VCAN):c.*909deldeletion Uncertain significance 354485 rs886060835 5:82877162-82877162 5:83581343-83581343
28 VCAN NM_004385.5(VCAN):c.*1408G>ASNV Uncertain significance 354491 rs886060837 5:82877661-82877661 5:83581842-83581842
29 VCAN NM_004385.5(VCAN):c.6169A>C (p.Arg2057=)SNV Uncertain significance 354433 rs886060826 5:82834991-82834991 5:83539172-83539172
30 VCAN NM_004385.5(VCAN):c.9481C>G (p.Leu3161Val)SNV Uncertain significance 354466 rs765359111 5:82843891-82843891 5:83548072-83548072
31 VCAN NM_004385.5(VCAN):c.-135G>ASNV Uncertain significance 354384 rs886060814 5:82767714-82767714 5:83471895-83471895
32 VCAN NM_004385.5(VCAN):c.-75A>GSNV Uncertain significance 354387 rs886060816 5:82767774-82767774 5:83471955-83471955
33 VCAN NM_004385.5(VCAN):c.930G>A (p.Val310=)SNV Uncertain significance 354394 rs886060818 5:82808103-82808103 5:83512284-83512284
34 VCAN NM_004385.5(VCAN):c.2937C>T (p.Pro979=)SNV Uncertain significance 354409 rs886060819 5:82817062-82817062 5:83521243-83521243
35 VCAN NM_004385.5(VCAN):c.3067A>G (p.Thr1023Ala)SNV Uncertain significance 354411 rs886060820 5:82817192-82817192 5:83521373-83521373
36 VCAN NM_004385.5(VCAN):c.3956A>G (p.His1319Arg)SNV Uncertain significance 354420 rs886060822 5:82818081-82818081 5:83522262-83522262
37 VCAN NM_004385.5(VCAN):c.4236T>C (p.Asn1412=)SNV Uncertain significance 354421 rs752922531 5:82833058-82833058 5:83537239-83537239
38 VCAN NM_004385.5(VCAN):c.4248C>T (p.Leu1416=)SNV Uncertain significance 354422 rs758617685 5:82833070-82833070 5:83537251-83537251
39 VCAN NM_004385.5(VCAN):c.5482C>T (p.Pro1828Ser)SNV Uncertain significance 354427 rs886060823 5:82834304-82834304 5:83538485-83538485
40 VCAN NM_004385.5(VCAN):c.5801T>G (p.Phe1934Cys)SNV Uncertain significance 354430 rs886060824 5:82834623-82834623 5:83538804-83538804
41 VCAN NM_004385.5(VCAN):c.7035G>A (p.Thr2345=)SNV Uncertain significance 354438 rs200757689 5:82835857-82835857 5:83540038-83540038
42 VCAN NM_004385.5(VCAN):c.8058A>C (p.Leu2686Phe)SNV Uncertain significance 354452 rs780717994 5:82836880-82836880 5:83541061-83541061
43 VCAN NM_004385.5(VCAN):c.8064C>T (p.Pro2688=)SNV Uncertain significance 354454 rs886060827 5:82836886-82836886 5:83541067-83541067
44 VCAN NM_004385.5(VCAN):c.*905_*912deldeletion Uncertain significance 354483 rs886060834 5:82877155-82877162 5:83581336-83581343
45 VCAN NM_004385.5(VCAN):c.*1031T>CSNV Uncertain significance 354488 rs548595991 5:82877284-82877284 5:83581465-83581465
46 VCAN NM_004385.5(VCAN):c.*1091C>TSNV Uncertain significance 354489 rs886060836 5:82877344-82877344 5:83581525-83581525
47 VCAN NM_004385.5(VCAN):c.-259C>TSNV Uncertain significance 354383 rs886060813 5:82767590-82767590 5:83471771-83471771
48 VCAN NM_004385.5(VCAN):c.109T>G (p.Ser37Ala)SNV Uncertain significance 354388 rs142740596 5:82785955-82785955 5:83490136-83490136
49 CDH23 NM_022124.6(CDH23):c.3331G>T (p.Val1111Phe)SNV Uncertain significance 636161 10:73472532-73472532 10:71712775-71712775
50 CDH23 NM_022124.6(CDH23):c.7241A>T (p.Asp2414Val)SNV Uncertain significance 636215 10:73559265-73559265 10:71799508-71799508

Expression for Vitreoretinopathy

Search GEO for disease gene expression data for Vitreoretinopathy.

Pathways for Vitreoretinopathy

Pathways related to Vitreoretinopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 VCAN LRP5 IL6 FZD4 CTNNB1 COL2A1
2
Show member pathways
11.74 IL6 FZD4 CTNNB1
3 11.65 LRP5 FZD4 CTNNB1 CDH23
4 11.61 LRP5 FZD4 CTNNB1
5 11.59 FZD4 CTNNB1 CDH23
6 11.51 VCAN IL6 COL2A1
7 11.14 LRP5 IL6 FZD4 CTNNB1
8 10.9 LRP5 FZD4
9 10.75 LRP5 CTNNB1

GO Terms for Vitreoretinopathy

Cellular components related to Vitreoretinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.26 VCAN PRSS23 IL6 COL2A1
2 catenin complex GO:0016342 9.16 CTNNB1 CDH23
3 Wnt signalosome GO:1990909 8.62 LRP5 CTNNB1

Biological processes related to Vitreoretinopathy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.88 NDP LRP5 IL6 FZD4 CTNNB1
2 visual perception GO:0007601 9.73 NDP COL2A1 CDH23 ABCA4
3 skeletal system development GO:0001501 9.72 VCAN CTNNB1 COL2A1
4 sensory perception of sound GO:0007605 9.7 FZD4 COL2A1 CDH23
5 canonical Wnt signaling pathway GO:0060070 9.63 LRP5 FZD4 CTNNB1
6 positive regulation of osteoblast differentiation GO:0045669 9.58 LRP5 IL6 CTNNB1
7 negative regulation of neurogenesis GO:0050768 9.56 IL6 CTNNB1
8 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 LRP5 CTNNB1
9 tissue homeostasis GO:0001894 9.51 CTNNB1 COL2A1
10 gastrulation with mouth forming second GO:0001702 9.49 LRP5 CTNNB1
11 regulation of angiogenesis GO:0045765 9.43 TSPAN12 IL6 CTNNB1
12 retinal blood vessel morphogenesis GO:0061304 9.37 LRP5 FZD4
13 retina vasculature morphogenesis in camera-type eye GO:0061299 9.32 NDP FZD4
14 positive regulation of DNA-binding transcription factor activity GO:0051091 9.26 NDP IL6 FZD4 CTNNB1
15 extracellular matrix-cell signaling GO:0035426 9.16 NDP FZD4
16 Wnt signaling pathway GO:0016055 9.02 TSPAN12 NDP LRP5 FZD4 CTNNB1

Molecular functions related to Vitreoretinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Wnt-activated receptor activity GO:0042813 8.8 TSPAN12 LRP5 FZD4

Sources for Vitreoretinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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37 LifeMap
39 LOVD
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43 MeSH
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50 NDF-RT
53 NINDS
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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