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 exudative vitreoretinopathy 2, x-linked and exudative vitreoretinopathy 4. An important gene associated with Vitreoretinopathy is TSPAN12 (Tetraspanin 12), and among its related pathways/superpathways are ERK Signaling and WNT 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 180)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 2, x-linked 34.3 NDP LRP5 FZD4
2 exudative vitreoretinopathy 4 34.1 TSPAN12 NDP LRP5 FZD4
3 exudative vitreoretinopathy 3 33.9 TSPAN12 NDP FZD4 EVR3
4 exudative vitreoretinopathy 1 33.2 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
5 wagner syndrome 33.1 VCAN-AS1 VCAN COL2A1
6 exudative vitreoretinopathy 30.8 ZNF408 TSPAN12 RCBTB1 PRSS23 NDP-AS1 NDP
7 vitreoretinal degeneration 30.4 VCAN COL2A1
8 norrie disease 30.3 ZNF408 TSPAN12 NDP LRP5 FZD4 CTNNB1
9 retinal vascular disease 30.2 ZNF408 TSPAN12 NDP LRP5 IL6 FZD4
10 osteoporosis-pseudoglioma syndrome 30.1 NDP LRP5 FZD4 CTNNB1
11 persistent hyperplastic primary vitreous 30.0 ZNF408 TSPAN12 NDP LRP5 FZD4
12 vitreous syneresis 30.0 VCAN COL2A1
13 leukocoria 30.0 ZNF408 TSPAN12 NDP LRP5 FZD4
14 retinal detachment 29.9 ZNF408 TSPAN12 NDP LRP5 IL6 FZD4
15 coats disease 29.8 ZNF408 TSPAN12 RCBTB1 NDP LRP5 FZD4
16 congenital toxoplasmosis 29.2 COL2A1 ABCA4
17 osteoporosis 29.0 NDP LRP5 IL6 FZD4 CTNNB1 COL2A1
18 inherited retinal disorder 27.9 VCAN LRP5 KIF11 FZD4 COL2A1 CDH23
19 retinitis pigmentosa 26.9 ZNF408 RCBTB1 KIF11 IL6 CTNNB1 CDH23
20 vitreoretinopathy, neovascular inflammatory 12.9
21 exudative vitreoretinopathy 5 12.7
22 wagner vitreoretinopathy 12.7
23 exudative vitreoretinopathy 6 12.7
24 exudative vitreoretinopathy 7 12.6
25 vcan-related vitreoretinopathy 12.3
26 syndromic vitreoretinopathy 12.1
27 isolated vitreoretinopathy 12.1
28 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.5
29 microvascular complications of diabetes 5 10.7
30 microvascular complications of diabetes 1 10.7
31 microvascular complications of diabetes 2 10.7
32 macular holes 10.7
33 uveitis 10.6
34 yemenite deaf-blind hypopigmentation syndrome 10.5
35 joint laxity, short stature, and myopia 10.5
36 myopia 10.5
37 macular retinal edema 10.5
38 retinal disease 10.5
39 cataract 10.5
40 eye disease 10.5
41 ndp-related retinopathies 10.4
42 preretinal fibrosis 10.4
43 vitreous detachment 10.4
44 retinal degeneration 10.4
45 microcephaly 10.3
46 keratopathy 10.3
47 blind hypotensive eye 10.3
48 neovascular glaucoma 10.3
49 persistent hyperplastic primary vitreous, autosomal recessive 10.3
50 cytokine deficiency 10.3

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 9.91 ABCA4 COL2A1 CTNNB1 FZD4 IL6 LRP5
2 hearing/vestibular/ear MP:0005377 9.63 CDH23 COL2A1 CTNNB1 FZD4 NDP TSPAN12
3 pigmentation MP:0001186 9.35 ABCA4 CTNNB1 FZD4 LRP5 NDP
4 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 88)
# 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 Dermatologic Agents Phase 4
4 Anesthetics Phase 4
5 Anesthetics, Local Phase 4
6
Colchicine Approved Phase 3 64-86-8 2833 6167
7
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
8
leucovorin Approved Phase 3 58-05-9 6006 143
9
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
10
Ranibizumab Approved Phase 3 347396-82-1 459903
11
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
12
Fluorouracil Approved Phase 3 51-21-8 3385
13
Dalteparin Approved Phase 3 9005-49-6
14
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
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 Tubulin Modulators Phase 3
18 Antimitotic Agents Phase 3
19 Antirheumatic Agents Phase 3
20 Hormones Phase 3
21 Hormone Antagonists Phase 3
22 glucocorticoids Phase 3
23 Anti-Inflammatory Agents Phase 3
24 Immunologic Factors Phase 3
25 Triamcinolone diacetate Phase 3
26 Immunosuppressive Agents Phase 3
27 triamcinolone acetonide Phase 3
28 Triamcinolone hexacetonide Phase 3
29 Angiogenesis Inhibitors Phase 3
30 Vitamin B Complex Phase 3
31 Folic Acid Antagonists Phase 3
32 Folate Phase 3
33 Vitamin B9 Phase 3
34 Fibrinolytic Agents Phase 3
35 Heparin, Low-Molecular-Weight Phase 3
36 calcium heparin Phase 3
37 Anticoagulants 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
Dorzolamide Approved 120279-96-1 5284549 3154
43
Timolol Approved 26839-75-8 5478 33624
44
Bimatoprost Approved, Investigational 155206-00-1 5311027
45
Curcumin Approved, Experimental, Investigational 458-37-7 969516
46
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
47
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
48
Epinephrine Approved, Vet_approved Early Phase 1 51-43-4 5816
49
Racepinephrine Approved Early Phase 1 329-65-7 838
50
Iodine Approved, Investigational 7553-56-2 807

Interventional clinical trials:

(show all 40)
# 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 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 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
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 An Observational Study of Retinal Function and Structure After Repair of Macula-involving Retinal Detachment Complicated by Proliferative Vitreoretinopathy (RDPVR) Using Adaptive Optics Unknown status NCT03551574
20 Evaluation Use Optical Coherence Tomography - Rescan During Dissection of Macular Membranes : Pre and Post Operative Aspects Unknown status NCT02748421
21 Comparison of Two Techniques for Epiretinal or Internal Limiting Membrane Peel. Unknown status NCT00892619
22 Double Endotamponade With Perfluorodecalin and Silicone Oil in Retinal Detachment Surgery: Randomised Clinical Trial of Safety Unknown status NCT01959568
23 A Prospective Pilot Study Evaluating the Effect of Intravitreal Injection of Bevacizumab on Recurrent Retinal Detachment Due to Proliferative Vitreoretinopathy Completed NCT01860586 Bevacizumab
24 Outcomes of Vitrectomy in Pediatric Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT03208205
25 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
26 Perfluorocarbone Liquids for Tamponading Lower Retinal Breaks to Achieve Retinal Reattachment in Eyes of Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT04168255
27 Comparison of Vitrectomy Without Internal Limiting Membrane Peeling Versus Inverted ILM Flap Technique for Macular Hole Retinal Detachment in Highly Myopic Eyes Completed NCT04011007
28 Familial Exudative Vitreoretinopathy Clinical and Molecular Studies Completed NCT00106756
29 Surgical Techniques for Epiretinal Membrane Removal in Pars Plana Vitrectomy: A Comparative Study Between 20-Gauge and 23-Gauge Vitrectomy Completed NCT04280770
30 The Influence of Silicone Oil on Nerve Fiber Layer Thickness After Pars Plana Vitrectomy Completed NCT01255306 Local medical treatment of raised intraocular pressure
31 Emulsification of Different Viscosity Silicone Oil After Complicated Retinal Detachment Surgery: A Randomized Double-masked Clinical Trial Completed NCT02988583
32 Analysis of Soluble Mediators of Inflammation and Angiogenesis in the Vitreous of Patients With Diabetic Retinopathy Treated With Curcumin/Homotaurine/Vit. D3 Completed NCT04378972
33 Plasma Levels of Matrix Metalloproteinases and Degree of DNA Fragmentation in Patients With Pseudoexfoliation Syndrome and Open-Angle Glaucoma (PEXG) Completed NCT00327613
34 Adrenocorticotropic Hormone for Intraocular Inflammation in Post-operative Proliferative Vitreoretinopathy Patients Recruiting NCT03727776 Early Phase 1 Adrenocorticotropic Hormone
35 Visual Outcome Evaluation and Genetic Analysis: Shanghai High Myopia Study Recruiting NCT03062085
36 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
37 Silicone Oil Versus Long-acting Gas Tamponade in Proliferative Diabetic Retinopathy Patients With High-grade Vitreoretinal Adhesion Undergoing Vitrectomy Recruiting NCT03660384
38 Pro-permeability and Pro-fibrosis Factors in the Aqueous of Patients With Retinal Diseases Recruiting NCT02688309 Ozurdex
39 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 Recruiting NCT04158622
40 Surgical Retinotomy for the Treatment of Glaucoma Not yet recruiting NCT03798145

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, Monocytes, Bone, Smooth Muscle, Cortex

Publications for Vitreoretinopathy

Articles related to Vitreoretinopathy:

(show top 50) (show all 3112)
# Title Authors PMID Year
1
Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy. 61
32420513 2020
2
Increased Expression of Growth Hormone-Releasing Hormone in Fibrinous Inflammation of Proliferative Diabetic Retinopathy. 61
32061756 2020
3
ETIOLOGY AND CLINICAL CHARACTERISTICS OF MACULAR EDEMA IN PATIENTS WITH FAMILIAL EXUDATIVE VITREORETINOPATHY. 61
31404032 2020
4
RECURRENCES OF RETINAL DETACHMENT AFTER RETINECTOMY: Causes and Outcomes. 61
31365519 2020
5
MACULAR CAPILLARY DROPOUT IN FAMILIAL EXUDATIVE VITREORETINOPATHY AND ITS RELATIONSHIP WITH VISUAL ACUITY AND DISEASE PROGRESSION. 61
30865063 2020
6
PDGFRβ plays an essential role in patient vitreous-stimulated contraction of retinal pigment epithelial cells from epiretinal membranes. 61
32561481 2020
7
Phenotypic variance in Calpain-5 retinal degeneration. 61
32274441 2020
8
Outcomes of surgery in eyes with familial exudative vitreoretinopathyassociated retinal detachment. 61
31941588 2020
9
Viscodelamination of Localized Retrolental Plaques During Lens-Sparing Vitrectomy in Eyes With Pediatric Tractional Vitreoretinopathy. 61
32516225 2020
10
Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene. 61
32530348 2020
11
Select pediatric vitreoretinal disease in the setting of Turner's syndrome. 61
32274445 2020
12
Acupuncture resulting in eye penetration and proliferative vitreoretinopathy - Surgical and medical management with intraocular methotrexate. 61
32181412 2020
13
B-HEX pupil expander in vitreoretinal surgery - A case series. 61
32461476 2020
14
Neferine inhibits epidermal growth factor-induced proliferation and migration of retinal pigment epithelial cells through downregulating p38 MAPK and PI3K/AKT signalling. 61
32064963 2020
15
Factors of Retinal Re-detachment and Visual Outcome after Intraocular Silicone Oil Removal in Silicone Oil-filled Eyes. 61
31744338 2020
16
Inflammatory mediators of proliferative vitreoretinopathy: hypothesis and review. 61
32103371 2020
17
Self-assembling Hydrogel Loaded with 5-FU PLGA Microspheres as A Novel Vitreous Substitute for Proliferative Vitreoretinopathy. 61
32419359 2020
18
A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy. 61
32429730 2020
19
Epithelial-mesenchymal transition suppresses ERas to activate autophagy in retinal pigment epithelial cells in proliferative vitreoretinopathy. 61
32432726 2020
20
A mouse model for kinesin family member 11 (Kif11)-associated familial exudative vitreoretinopathy. 61
31993640 2020
21
Posterior keratoconus in a patient with familial exudative vitreoretinopathy. 61
32317479 2020
22
Eyeing the Extracellular Matrix in Vascular Development and Microvascular Diseases and Bridging the Divide between Vascular Mechanics and Function. 61
32429045 2020
23
Improving outcomes in retinal detachment: the potential role of rho-kinase inhibitors. 61
32235252 2020
24
SINGLE NUCLEOTIDE POLYMORPHISMS IN RETINAL DETACHMENT PATIENTS WITH AND WITHOUT PROLIFERATIVE VITREORETINOPATHY. 61
30807515 2020
25
Preoperative, Intraoperative and Postoperative Corticosteroid Use as an Adjunctive Treatment for Rhegmatogenous Retinal Detachment. 61
32455658 2020
26
Tamponade in surgery for retinal detachment associated with proliferative vitreoretinopathy. 61
32408387 2020
27
Primary Retinal Detachment Outcomes Study (PRO Study): Pseudophakic Retinal Detachment Outcomes-PRO Study Report #3. 61
32437865 2020
28
Elevated vitreous αB-crystallin in patients with rhegmatogenous retinal detachment and association with proliferative vitreoretinopathy and retinal detachment area. 61
32440819 2020
29
Localized versus 360° intraoperative laser retinopexy in cases of rhegmatogenous retinal detachment with mild-to-moderate grade proliferative vitreoretinopathy. 61
32398848 2020
30
Increased Glial Fibrillary Acid Protein and Vimentin in Vitreous Fluid as a Biomarker for Proliferative Vitreoretinopathy. 61
32413125 2020
31
POSTERIORLY INSERTED VITREOUS BASE: Preoperative Characteristics, Intraoperative Findings, and Outcomes After Vitrectomy. 61
30883531 2020
32
Myo/Nog cells expressing muscle proteins are present in preretinal membranes from patients with proliferative vitreoretinopathy. 61
32474138 2020
33
Outcome and risk factors of vitreoretinal surgery in pediatric patients with familial exudative vitreoretinopathy. 61
32385748 2020
34
Distinct Serum and Vitreous Inflammation-Related Factor Profiles in Patients with Proliferative Vitreoretinopathy. 61
32274748 2020
35
Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families. 61
31765079 2020
36
A therapeutic perspective for proliferative vitreoretinopathy based on the inhibition of epithelial-mesenchymal transition by miR-194. 61
32411748 2020
37
Epigenomic and Transcriptomic Changes During Human RPE EMT in a Stem Cell Model of Epiretinal Membrane Pathogenesis and Prevention by Nicotinamide. 61
32243845 2020
38
Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort. 61
32238352 2020
39
Visual outcomes after surgery for primary rhegmatogenous retinal detachment in era of microincision vitrectomy: Japan-Retinal Detachment Registry Report IV. 61
32245850 2020
40
Repair of Rhegmatogenous Retinal Detachment Following Globe Perforation by Retrobulbar Anesthesia. 61
32348543 2020
41
A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics. 61
31527767 2020
42
Intra-silicone Oil Injection of Methotrexate in Retinal Reattachment Surgery for Proliferative Vitreoretinopathy. 61
31136255 2020
43
TIMING INFLUENCE ON OUTCOMES OF VITRECTOMY FOR OPEN-GLOBE INJURY: A Prospective Randomized Comparative Study. 61
30689621 2020
44
Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes. 61
32507488 2020
45
Oxidative stress enhanced the transforming growth factor-β2-induced epithelial-mesenchymal transition through chemokine ligand 1 on ARPE-19 cell. 61
32132577 2020
46
Gremlin mediates the TGF-β-induced induction of profibrogenic genes in human retinal pigment epithelial cells. 61
32104303 2020
47
The effect of infliximab and octreotide on cytokine levels experimental proliferative vitreoretinopathy. 61
31809602 2020
48
RPE epithelial-mesenchymal transition plays a critical role in the pathogenesis of proliferative vitreoretinopathy. 61
32355707 2020
49
Characterization of Unique Lens Morphology in a Cohort of Children with Familial Exudative Vitreoretinopathy. 61
32141791 2020
50
Macular optical coherence tomography findings after vitreoretinal surgery for rhegmatogenous retinal detachment. 61
32174150 2020

Variations for Vitreoretinopathy

ClinVar genetic disease variations for Vitreoretinopathy:

6 (show top 50) (show all 235) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.157C>T (p.Pro53Ser)SNV Conflicting interpretations of pathogenicity 843872 5:82786003-82786003 5:83490184-83490184
6 VCAN NM_004385.5(VCAN):c.160C>T (p.Pro54Ser)SNV Conflicting interpretations of pathogenicity 860846 5:82786006-82786006 5:83490187-83490187
7 VCAN NM_004385.5(VCAN):c.221A>G (p.Asn74Ser)SNV Conflicting interpretations of pathogenicity 848210 5:82786067-82786067 5:83490248-83490248
8 VCAN NM_004385.5(VCAN):c.7893A>T (p.Leu2631Phe)SNV Conflicting interpretations of pathogenicity 852760 5:82836715-82836715 5:83540896-83540896
9 VCAN NM_004385.5(VCAN):c.9049G>C (p.Ala3017Pro)SNV Conflicting interpretations of pathogenicity 857013 5:82837871-82837871 5:83542052-83542052
10 VCAN NM_004385.5(VCAN):c.927T>C (p.Thr309=)SNV Conflicting interpretations of pathogenicity 167819 rs536465380 5:82808100-82808100 5:83512281-83512281
11 ABCA4 NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)SNV Conflicting interpretations of pathogenicity 7892 rs28938473 1:94473287-94473287 1:94007731-94007731
12 VCAN NM_004385.5(VCAN):c.5859G>T (p.Thr1953=)SNV Conflicting interpretations of pathogenicity 167825 rs80028865 5:82834681-82834681 5:83538862-83538862
13 VCAN NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)SNV Conflicting interpretations of pathogenicity 198796 rs146630369 5:82835589-82835589 5:83539770-83539770
14 VCAN NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)SNV Conflicting interpretations of pathogenicity 198801 rs160278 5:82835724-82835724 5:83539905-83539905
15 VCAN NM_004385.5(VCAN):c.2234A>C (p.Lys745Thr)SNV Conflicting interpretations of pathogenicity 259362 rs144502710 5:82816359-82816359 5:83520540-83520540
16 VCAN NM_004385.5(VCAN):c.1931C>T (p.Pro644Leu)SNV Conflicting interpretations of pathogenicity 354401 rs148104757 5:82816056-82816056 5:83520237-83520237
17 VCAN NM_004385.5(VCAN):c.4248C>T (p.Leu1416=)SNV Conflicting interpretations of pathogenicity 354422 rs758617685 5:82833070-82833070 5:83537251-83537251
18 VCAN NM_004385.5(VCAN):c.7035G>A (p.Thr2345=)SNV Conflicting interpretations of pathogenicity 354438 rs200757689 5:82835857-82835857 5:83540038-83540038
19 VCAN NM_004385.5(VCAN):c.9025G>A (p.Glu3009Lys)SNV Conflicting interpretations of pathogenicity 354461 rs146090207 5:82837847-82837847 5:83542028-83542028
20 VCAN NM_004385.5(VCAN):c.*1031T>CSNV Conflicting interpretations of pathogenicity 354488 rs548595991 5:82877284-82877284 5:83581465-83581465
21 VCAN NM_004385.5(VCAN):c.*707G>ASNV Conflicting interpretations of pathogenicity 354475 rs545081931 5:82876960-82876960 5:83581141-83581141
22 VCAN NM_004385.5(VCAN):c.109T>G (p.Ser37Ala)SNV Conflicting interpretations of pathogenicity 354388 rs142740596 5:82785955-82785955 5:83490136-83490136
23 VCAN NM_004385.5(VCAN):c.7895C>T (p.Thr2632Ile)SNV Conflicting interpretations of pathogenicity 354450 rs767660495 5:82836717-82836717 5:83540898-83540898
24 VCAN NM_004385.5(VCAN):c.8063C>T (p.Pro2688Leu)SNV Conflicting interpretations of pathogenicity 354453 rs755806449 5:82836885-82836885 5:83541066-83541066
25 VCAN NM_004385.5(VCAN):c.8454G>A (p.Ala2818=)SNV Conflicting interpretations of pathogenicity 354459 rs773474075 5:82837276-82837276 5:83541457-83541457
26 VCAN NM_004385.5(VCAN):c.3204C>T (p.Gly1068=)SNV Conflicting interpretations of pathogenicity 354416 rs142805131 5:82817329-82817329 5:83521510-83521510
27 VCAN NM_004385.5(VCAN):c.8272G>T (p.Gly2758Cys)SNV Conflicting interpretations of pathogenicity 354456 rs577603057 5:82837094-82837094 5:83541275-83541275
28 VCAN NM_004385.5(VCAN):c.2542G>A (p.Glu848Lys)SNV Conflicting interpretations of pathogenicity 354407 rs188853533 5:82816667-82816667 5:83520848-83520848
29 VCAN NM_004385.5(VCAN):c.9481C>G (p.Leu3161Val)SNV Conflicting interpretations of pathogenicity 354466 rs765359111 5:82843891-82843891 5:83548072-83548072
30 VCAN NM_004385.5(VCAN):c.*160A>GSNV Uncertain significance 354471 rs886060828 5:82876413-82876413 5:83580594-83580594
31 VCAN NM_004385.5(VCAN):c.*813_*816dupduplication Uncertain significance 354477 rs140261411 5:82877065-82877066 5:83581246-83581247
32 VCAN NM_004385.5(VCAN):c.*1671C>TSNV Uncertain significance 354499 rs776524825 5:82877924-82877924 5:83582105-83582105
33 VCAN NM_004385.5(VCAN):c.6169A>C (p.Arg2057=)SNV Uncertain significance 354433 rs886060826 5:82834991-82834991 5:83539172-83539172
34 VCAN NM_004385.5(VCAN):c.*881_*883deldeletion Uncertain significance 354480 rs886060831 5:82877134-82877136 5:83581315-83581317
35 VCAN NM_004385.5(VCAN):c.*905A>GSNV Uncertain significance 354484 rs796702160 5:82877158-82877158 5:83581339-83581339
36 VCAN NM_004385.5(VCAN):c.*909deldeletion Uncertain significance 354485 rs886060835 5:82877162-82877162 5:83581343-83581343
37 VCAN NM_004385.5(VCAN):c.*1408G>ASNV Uncertain significance 354491 rs886060837 5:82877661-82877661 5:83581842-83581842
38 VCAN NM_004385.5(VCAN):c.*2C>TSNV Uncertain significance 354468 rs370984795 5:82876255-82876255 5:83580436-83580436
39 VCAN NM_004385.5(VCAN):c.*446T>CSNV Uncertain significance 354474 rs886060829 5:82876699-82876699 5:83580880-83580880
40 VCAN NM_004385.5(VCAN):c.3264A>G (p.Pro1088=)SNV Uncertain significance 354417 rs767745674 5:82817389-82817389 5:83521570-83521570
41 VCAN NM_004385.5(VCAN):c.5836C>T (p.His1946Tyr)SNV Uncertain significance 354431 rs886060825 5:82834658-82834658 5:83538839-83538839
42 VCAN NM_004385.5(VCAN):c.*883_*885deldeletion Uncertain significance 354481 rs886060832 5:82877136-82877138 5:83581317-83581319
43 VCAN NM_004385.5(VCAN):c.*898_*905delinsGindel Uncertain significance 354482 rs886060833 5:82877151-82877158 5:83581332-83581339
44 VCAN NM_001164097.1(VCAN):c.-334C>TSNV Uncertain significance 354382 rs886060812 5:82767515-82767515 5:83471696-83471696
45 VCAN NM_004385.5(VCAN):c.-89T>CSNV Uncertain significance 354386 rs886060815 5:82767760-82767760 5:83471941-83471941
46 VCAN NM_004385.5(VCAN):c.297G>C (p.Gly99=)SNV Uncertain significance 354389 rs886060817 5:82786143-82786143 5:83490324-83490324
47 VCAN NM_004385.5(VCAN):c.*905_*912deldeletion Uncertain significance 354483 rs886060834 5:82877155-82877162 5:83581336-83581343
48 VCAN NM_004385.5(VCAN):c.-259C>TSNV Uncertain significance 354383 rs886060813 5:82767590-82767590 5:83471771-83471771
49 VCAN NM_004385.5(VCAN):c.3103T>G (p.Phe1035Val)SNV Uncertain significance 354413 rs886060821 5:82817228-82817228 5:83521409-83521409
50 VCAN NM_004385.5(VCAN):c.5427C>T (p.His1809=)SNV Uncertain significance 354426 rs779803420 5:82834249-82834249 5:83538430-83538430

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
13.44 VCAN LRP5 IL6 FZD4 CTNNB1 COL2A1
2 11.65 LRP5 FZD4 CTNNB1 CDH23
3 11.61 LRP5 FZD4 CTNNB1
4 11.59 FZD4 CTNNB1 CDH23
5 11.51 VCAN IL6 COL2A1
6 11.31 VCAN IL6 COL2A1
7 11.14 LRP5 IL6 FZD4 CTNNB1
8 10.78 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 Wnt signalosome GO:1990909 8.62 LRP5 CTNNB1

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

(show all 13)
# 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 Wnt signaling pathway GO:0016055 9.65 TSPAN12 NDP LRP5 FZD4 CTNNB1
4 canonical Wnt signaling pathway GO:0060070 9.63 LRP5 FZD4 CTNNB1
5 positive regulation of osteoblast differentiation GO:0045669 9.58 LRP5 IL6 CTNNB1
6 positive regulation of mesenchymal cell proliferation GO:0002053 9.52 LRP5 CTNNB1
7 tissue homeostasis GO:0001894 9.51 CTNNB1 COL2A1
8 regulation of angiogenesis GO:0045765 9.5 TSPAN12 IL6 CTNNB1
9 gastrulation with mouth forming second GO:0001702 9.49 LRP5 CTNNB1
10 retinal blood vessel morphogenesis GO:0061304 9.37 LRP5 FZD4
11 positive regulation of DNA-binding transcription factor activity GO:0051091 9.35 NDP LRP5 IL6 FZD4 CTNNB1
12 retina vasculature morphogenesis in camera-type eye GO:0061299 9.33 NDP LRP5 FZD4
13 extracellular matrix-cell signaling GO:0035426 8.8 NDP LRP5 FZD4

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
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....