MCID: VTR007
MIFTS: 49

Vitreoretinopathy

Categories: Eye diseases, Rare diseases
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Aliases & Classifications for Vitreoretinopathy

MalaCards integrated aliases for Vitreoretinopathy:

Name: Vitreoretinopathy 58 28 5 75

Classifications:

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


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Orphanet 58 ORPHA98668

Summaries for Vitreoretinopathy

MalaCards based summary: Vitreoretinopathy is related to vitreoretinopathy, neovascular inflammatory and exudative vitreoretinopathy 1. An important gene associated with Vitreoretinopathy is TSPAN12 (Tetraspanin 12), and among its related pathways/superpathways are ERK Signaling and Nanog in Mammalian ESC Pluripotency. The drugs Triamcinolone and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone marrow, and related phenotypes are nervous system and embryo

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 406)
# Related Disease Score Top Affiliating Genes
1 vitreoretinopathy, neovascular inflammatory 32.8 VEGFA TGFB1 CAPN5
2 exudative vitreoretinopathy 1 31.2 ZNF408 VEGFA TSPAN12 TNF NDP LRP5
3 exudative vitreoretinopathy 31.1 ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
4 retinal perforation 30.7 VEGFA COL2A1 CAPN5
5 macular holes 30.6 VEGFA IL6 ABCA4
6 uveitis 30.5 VEGFA TNF IL6 CAPN5
7 neovascular glaucoma 30.5 VEGFA IL6 CAPN5
8 rubeosis iridis 30.4 VEGFA IL6
9 anterior uveitis 30.3 VEGFA TNF IL6
10 coats disease 30.3 ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
11 retinal vascular disease 30.2 ZNF408 VEGFA TSPAN12 TNF NDP IL6
12 telangiectasis 30.1 VEGFA TNF NDP
13 peripheral retinal degeneration 30.0 ZNF408 TSPAN12 COL2A1 ABCA4
14 endophthalmitis 30.0 VEGFA TNF IL6
15 autoimmune uveitis 30.0 TNF IL6 CAPN5
16 norrie disease 30.0 ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
17 macular retinal edema 30.0 VEGFA TNF IL6 ABCA4
18 leukocoria 30.0 ZNF408 TSPAN12 NDP LRP5 FZD4
19 retinal ischemia 29.9 VEGFA TNF IL6
20 persistent hyperplastic primary vitreous 29.9 ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
21 vitreoretinal dystrophy 29.9 ZNF408 TSPAN12 CAPN5
22 osteoporosis-pseudoglioma syndrome 29.9 NDP LRP5 FZD4 CTNNB1
23 posterior uveitis 29.8 VEGFA TNF IL6 CAPN5
24 strabismus 29.8 ZNF408 TSPAN12 FZD4 CTNNB1 COL2A1
25 panuveitis 29.8 VEGFA TNF IL6
26 corneal disease 29.7 VEGFA TNF IL6
27 macular dystrophy, dominant cystoid 29.7 VEGFA TNF IL6 CAPN5 ABCA4
28 vitreoretinal degeneration 29.7 TSPAN12 LRRC32 LRP5 ABCA4
29 acute retinal necrosis syndrome 29.6 VEGFA TNF IL6
30 chorioretinitis 29.6 VEGFA TNF IL6
31 retinal vein occlusion 29.6 VEGFA TNF IL6
32 chorioretinal scar 29.5 VEGFA ABCA4
33 retinal detachment 29.5 ZNF408 VEGFA TSPAN12 TNF TGFB1 NDP
34 refractive error 29.4 VEGFA COL2A1 ABCA4
35 arthropathy 29.4 TNF IL6 COL2A1
36 keratitis, hereditary 29.4 VEGFA TNF IL6
37 retinal telangiectasia 29.3 ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
38 osteoarthritis 29.2 TNF TGFB1 IL6 COL2A1
39 cataract 29.1 VEGFA VCAN TNF TGFB1 IL6 CTNNB1
40 toxoplasmosis 29.1 TNF TGFB1 IL6 ABCA4
41 glaucoma, primary open angle 29.0 VEGFA TNF ABCA4
42 eye disease 28.4 VEGFA TSPAN12 TNF NDP LRP5 IL6
43 connective tissue disease 28.4 VEGFA TNF TGFB1 IL6 CTNNB1 COL2A1
44 fundus dystrophy 28.3 ZNF408 VEGFA VCAN TSPAN12 LRP5 FZD4
45 osteoporosis 28.2 VEGFA TNF TGFB1 NDP LRP5 IL6
46 retinitis pigmentosa 27.9 ZNF408 VEGFA TSPAN12 TNF NDP IL6
47 wagner vitreoretinopathy 11.6
48 exudative vitreoretinopathy 4 11.6
49 exudative vitreoretinopathy 2, x-linked 11.6
50 exudative vitreoretinopathy 5 11.6

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 nervous system MP:0003631 10.14 ABCA4 COL2A1 CTNNB1 FZD4 IL6 LRP5
2 embryo MP:0005380 9.97 COL2A1 CTNNB1 FZD4 LRP5 TGFB1 TNF
3 cardiovascular system MP:0005385 9.93 ABCA4 COL2A1 CTNNB1 FZD4 IL6 LRP5
4 digestive/alimentary MP:0005381 9.92 COL2A1 CTNNB1 FZD4 IL6 LRRC32 TGFB1
5 pigmentation MP:0001186 9.83 ABCA4 CTNNB1 FZD4 LRP5 NDP
6 craniofacial MP:0005382 9.8 COL2A1 CTNNB1 LRP5 LRRC32 TGFB1 TNF
7 skeleton MP:0005390 9.65 ABCA4 COL2A1 CTNNB1 IL6 LRP5 NDP
8 vision/eye MP:0005391 9.36 ABCA4 COL2A1 CTNNB1 FZD4 IL6 LRP5

Drugs & Therapeutics for Vitreoretinopathy

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

(show top 50) (show all 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3
Isotretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4, 4759-48-2 5538 444795 5282379
4 Immunosuppressive Agents Phase 4
5 Dermatologic Agents Phase 4
6 Immunologic Factors Phase 4
7 Hormones Phase 4
8 Hormone Antagonists Phase 4
9
Triamcinolone hexacetonide Phase 4
10
Triamcinolone diacetate Phase 4
11
Triamcinolone Acetonide Phase 4 6436
12 glucocorticoids Phase 4
13 Anti-Inflammatory Agents Phase 4
14 Anesthetics Phase 4
15 Anesthetics, Local Phase 4
16
Colchicine Approved Phase 3 64-86-8 2833 6167
17
Fluorouracil Approved Phase 3 51-21-8 3385
18
Heparin, bovine Approved, Investigational, Withdrawn Phase 3 9005-49-6 22833565 9812414 772
19
Reviparin Approved, Investigational Phase 3 9041-08-1
20 Antimitotic Agents Phase 3
21 Tubulin Modulators Phase 3
22 Antimetabolites Phase 3
23 Fibrinolytic Agents Phase 3
24 Anticoagulants Phase 3
25 Calcium heparin Phase 3
26 Heparin, Low-Molecular-Weight Phase 3
27 Pharmaceutical Solutions Phase 3
28
Bevacizumab Approved, Investigational Phase 2 216974-75-3 135329020
29
Aflibercept Approved Phase 2 862111-32-8 124490314
30
Infliximab Approved Phase 2 170277-31-3
31
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60699 60700
32
Bromfenac Approved, Withdrawn Phase 2 91714-94-2 60726
33 Antineoplastic Agents, Immunological Phase 2
34 Angiogenesis Inhibitors Phase 2
35 Antirheumatic Agents Phase 2
36 topoisomerase I inhibitors Phase 2
37 Analgesics Phase 2
38 Anti-Inflammatory Agents, Non-Steroidal Phase 2
39 Ophthalmic Solutions Phase 2
40 Analgesics, Non-Narcotic Phase 2
41
Levoleucovorin Approved, Experimental, Investigational Phase 1 68538-85-2, 58-05-9, 73951-54-9 149436 6006
42
Methotrexate Approved Phase 1 1959-05-2, 59-05-2 4112 126941
43
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
44 Folic Acid Antagonists Phase 1
45 Folate Phase 1
46 Vitamin B9 Phase 1
47 Vitamin B Complex Phase 1
48
Dipivefrin Approved 52365-63-6 3105
49
Racepinephrine Approved, Vet_approved Early Phase 1 51-43-4, 329-65-7 838 5816
50
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3 3680

Interventional clinical trials:

(show all 32)
# 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 Repeated Intra-silicone Oil Injection of Methotrexate for Management of Proliferative Vitreoretinopathy Grade C; A Multi-center Study Unknown status NCT04482543 Phase 2, Phase 3 Methotrexate
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 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 Completed NCT04136366 Phase 3 ADX-2191 (intravitreal methotrexate 0.8%)
9 The Silicone Study Completed NCT00000140 Phase 3 Perfluoropropane;Sulfur Hexafluoride;Silicone Oil
10 Prophylactic Intravitreal 5-Fluorouracil and Heparin to Prevent PVR in High-risk Patients With Retinal Detachment. Completed NCT02834559 Phase 3 5-fluorouracil and low molecular weight heparin;Placebo
11 Intravitreal Decorin Preventing Proliferative Vitreoretinopathy in Perforating Injuries: a Pilot Study. Completed NCT02865031 Phase 1, Phase 2 Decorin
12 Bevacizumab Against Recurrent Retinal Detachment Completed NCT02192970 Phase 2 Bevacizumab
13 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
14 Treatment of Proliferative Vitreoretinopathy With Intravitreal Infliximab Recruiting NCT04891991 Phase 2 Intravitreal infliximab
15 A Prospective Matched Cohort Study of Intravitreal Topotecan in the Repair of Rhegmatogenous Retinal Detachment With Proliferative Vitreoretinopathy Not yet recruiting NCT05523869 Phase 2 Intravitreal topotecan
16 Efficacy of Bromfenac Sodium Hydrate Eye Drops in Children With Familial Exudative Vitreoretinopathy After Diode Laser Photocoagulation Not yet recruiting NCT05107921 Phase 2 Bromfenac Sodium
17 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
18 Molecular Taxonomy of Surgically-harvested Ocular Tissues Defined by Single-cell Transcriptomics Unknown status NCT04682054
19 Evaluation Use Optical Coherence Tomography - Rescan During Dissection of Macular Membranes : Pre and Post Operative Aspects Unknown status NCT02748421
20 Perfluorocarbone Liquids for Tamponading Lower Retinal Breaks to Achieve Retinal Reattachment in Eyes of Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT04168255
21 A Prospective Pilot Study Evaluating the Effect of Intravitreal Injection of Bevacizumab on Recurrent Retinal Detachment Due to Proliferative Vitreoretinopathy Completed NCT01860586 Bevacizumab
22 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
23 Familial Exudative Vitreoretinopathy Clinical and Molecular Studies Completed NCT00106756
24 Outcomes of Vitrectomy in Pediatric Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT03208205
25 Outcomes of Extensive Brilliant Blue G-Assisted Internal Limiting Membrane Peeling in Retinal Detachment With Proliferative Vitreoretinopathy Using 3D Visualization System Completed NCT04490876
26 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
27 Adrenocorticotropic Hormone for Intraocular Inflammation in Post-operative Proliferative Vitreoretinopathy Patients Recruiting NCT03727776 Early Phase 1 Adrenocorticotropic Hormone
28 Randomized Trial Comparing Air Versus Gas Tamponade in Primary Retinal Detachment Recruiting NCT05561569
29 Internal Limiting Membrane Peeling in Macula-off Retinal Detachment With Grade B Proliferative Vitreoretinopathy Not yet recruiting NCT05538156
30 Slow-Release Dexamethasone in Reducing Proliferative Vitreoretinopathy After Vitreotomy in Proliferative Diabetic Retinopathy Not yet recruiting NCT05415826
31 Early Prevention Strategies of Severe Proliferative Vitreoretinopathy Base on Precision Diagnosis of Single Cell Sequencing Not yet recruiting NCT04520789
32 The Evaluation of the Safety and Efficacy of Sustained Release Dexamethasone Intracanalicular Insert (DEXTENZA) in Pediatric Patients Following Retinal Surgery or Laser Treatment Under Anesthesia. (TENDER) Not yet recruiting NCT05620901 Early Phase 1 Dextenza 0.4Mg Ophthalmic Insert;Pred Forte

Search NIH Clinical Center for Vitreoretinopathy

Genetic Tests for Vitreoretinopathy

Genetic tests related to Vitreoretinopathy:

# Genetic test Affiliating Genes
1 Vitreoretinopathy 28

Anatomical Context for Vitreoretinopathy

Organs/tissues related to Vitreoretinopathy:

MalaCards : Eye, Retina, Bone Marrow, Endothelial, Smooth Muscle, Monocytes, Cortex

Publications for Vitreoretinopathy

Articles related to Vitreoretinopathy:

(show top 50) (show all 3542)
# Title Authors PMID Year
1
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 5
30718709 2019
2
A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy. 62
36453149 2022
3
Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy. 62
36411543 2022
4
DRAINAGE RETINOTOMY IS A RISK FACTOR FOR SURGICAL FAILURE AFTER PARS PLANA VITRECTOMY IN PATIENTS WITH PRIMARY UNCOMPLICATED RHEGMATOGENOUS RETINAL DETACHMENT. 62
36394886 2022
5
Novel insights into the pathophysiology of proliferative vitreoretinopathy: The role of vitreoschisis-induced vitreous cortex remnants. 62
35673878 2022
6
Idelalisib inhibits experimental proliferative vitroretinopathy. 62
35854067 2022
7
Norcantharidin attenuates epidermal growth factor-induced proliferation, EMT and motility in ARPE-19 cells by modulating the AKT/snail/E-cadherin axis. 62
36356893 2022
8
The intervention of epithelial-mesenchymal transition in homeostasis of human retinal pigment epithelial cells: a review. 62
36377481 2022
9
Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series. 62
36369866 2022
10
Immune modulating nanoparticles for the treatment of ocular diseases. 62
36424630 2022
11
Outcomes of Zone 3 Open Globe Injuries By Wound Extent Subcategorization of zone 3 injuries segregates visual and anatomic outcomes. 62
36332844 2022
12
Giant Retinal Tears: Long-Term Outcomes of Fellow Eyes. 62
36378614 2022
13
Outcomes of Using Perfluorocarbon Liquid as Postoperative Tamponade in Complex Inferior Retinal Detachments. 62
36377014 2022
14
Predictive values of systemic inflammation biomarkers in proliferative vitreoretinopathy associated with primary rhegmatogenous retinal detachment. 62
36375137 2022
15
The outcomes of primary pars plana vitrectomy alone as a first surgical procedure in pediatric rhegmatogenous retinal detachment. 62
35570251 2022
16
Multimodal Retinal Imaging Findings in Two Cousins With VCAN-Related Vitreoretinopathy or Wagner Disease. 62
36378611 2022
17
Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series. 62
36362148 2022
18
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report. 62
36426739 2022
19
A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy. 62
34151585 2022
20
Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy. 62
35037517 2022
21
A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy. 62
36333947 2022
22
PREVALENCE, CHARACTERISTICS, AND OUTCOMES OF RHEGMATOGENOUS RETINAL DETACHMENT IN EYES WITH TRABECULECTOMY OR GLAUCOMA DRAINAGE DEVICES. 62
35963003 2022
23
PROLIFERATIVE RETINOPATHY IN A 13-YEAR-OLD WITH ADAMS-OLIVER SYNDROME. 62
33323896 2022
24
Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP). 62
36444989 2022
25
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants. 62
36153650 2022
26
Pars Plana Vitrectomy with and without Supplemental Scleral Buckle for the Repair of Rhegmatogenous Retinal Detachment: A Meta-analysis. 62
35227949 2022
27
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION. 62
36018796 2022
28
COVID-19 Vaccination Hesitancy and Its Association With Altered Presentation of Primary Rhegmatogenous Retinal Detachment. 62
35609676 2022
29
Outcomes of chronic macula-off retinal detachment repair. 62
36289075 2022
30
Localized versus 360-degree laser photocoagulation with limited pars plana vitrectomy in the management of primary rhegmatogenous retinal detachment. 62
36207689 2022
31
Intravitreal Methotrexate for the Prevention and Treatment of Proliferative Vitreoretinopathy in Rhegmatogenous Retinal Detachment: A Systematic Review. 62
36239680 2022
32
Preoperative and Postoperative Factors Affecting Functional Success in Anatomically Successful Retinal Detachment Surgery. 62
36220639 2022
33
A hybrid 26G needle drainage technique in scleral buckling: A mini scleral cut-down. 62
36190054 2022
34
Intravitreal 5-Fluorouracil and Heparin to Prevent Proliferative Vitreoretinopathy: Results from a Randomized Clinical Trial. 62
35680097 2022
35
Mechanisms of Epithelial-Mesenchymal Transition and Prevention of Dispase-Induced PVR by Delivery of an Antioxidant αB Crystallin Peptide. 62
36290802 2022
36
Advances in Vitreoretinal Surgery. 62
36362657 2022
37
Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report. 62
35880249 2022
38
Large inferior retinectomies for proliferative vitreoretinopathy in silicone oil-filled eyes. 62
36183118 2022
39
Emerging roles of circular RNAs in retinal diseases. 62
35142661 2022
40
Intraoperative optical coherence tomography observation with perfluorocarbon tamponade for subretinal membranes in proliferative vitreous retinopathy. 62
36084328 2022
41
Risk Factors for Failure of Final Anatomic Surgical Reattachment in Retinal Detachments From Combat Ocular Trauma. 62
36107623 2022
42
Outcomes of Heavy Silicone Oil (Densiron) compared to Silicone Oil in primary rhegmatogenous retinal detachment: a multivariable regression model. 62
36057670 2022
43
Systemic and Intraocular Methotrexate for the Prevention and Treatment of Proliferative Vitreoretinopathy in Children With Rhegmatogenous Retinal Detachment and Underlying Inflammatory Disease. 62
36380820 2022
44
Development of Proliferative Vitreoretinopathy Is Attenuated by Chicken Ovalbumin Upstream Promoter Transcriptional Factor 1 Via Inhibiting Epithelial-Mesenchymal Transition. 62
36333112 2022
45
Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4. 62
35951321 2022
46
Mutation spectrum in a cohort with familial exudative vitreoretinopathy. 62
35876299 2022
47
Vitreoschisis and retinal detachment: New insight in proliferative vitreoretinopathy. 62
34779683 2022
48
Long-term clinical prognosis of 335 infant single-gene positive FEVR cases. 62
35918671 2022
49
Cystoid Macular Edema after Rhegmatogenous Retinal Detachment Repair with Pars Plana Vitrectomy: Rate, Risk Factors, and Outcomes. 62
36013153 2022
50
Role of CFH Y402H and ARMS2 A69S polymorphisms in susceptibility to post rhegmatogenous retinal detachment macular complications. 62
35236246 2022

Variations for Vitreoretinopathy

ClinVar genetic disease variations for Vitreoretinopathy:

5 (show top 50) (show all 235)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCA4 NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) SNV Pathogenic
7892 rs28938473 GRCh37: 1:94473287-94473287
GRCh38: 1:94007731-94007731
2 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) SNV Pathogenic
99428 rs61750641 GRCh37: 1:94471055-94471055
GRCh38: 1:94005499-94005499
3 TSPAN12 NM_012338.4(TSPAN12):c.100del (p.Trp34fs) DEL Pathogenic
523501 rs1554403767 GRCh37: 7:120480130-120480130
GRCh38: 7:120840076-120840076
4 LRRC32 NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter) SNV Likely Pathogenic
545640 rs369867819 GRCh37: 11:76371007-76371007
GRCh38: 11:76659963-76659963
5 LRP5 NM_002335.4(LRP5):c.2090A>G (p.Lys697Arg) SNV Likely Pathogenic
560373 rs1565083843 GRCh37: 11:68174280-68174280
GRCh38: 11:68406812-68406812
6 VCAN NM_004385.5(VCAN):c.3673C>A (p.Pro1225Thr) SNV Uncertain Significance
903936 rs1746123738 GRCh37: 5:82817798-82817798
GRCh38: 5:83521979-83521979
7 CDH23 NM_022124.6(CDH23):c.7241A>T (p.Asp2414Val) SNV Uncertain Significance
636215 rs1589428738 GRCh37: 10:73559265-73559265
GRCh38: 10:71799508-71799508
8 CDH23, C10orf105 NM_022124.6(CDH23):c.3331G>T (p.Val1111Phe) SNV Uncertain Significance
636161 rs397517321 GRCh37: 10:73472532-73472532
GRCh38: 10:71712775-71712775
9 VCAN-AS1, VCAN NM_004385.5(VCAN):c.8058A>C (p.Leu2686Phe) SNV Uncertain Significance
354452 rs780717994 GRCh37: 5:82836880-82836880
GRCh38: 5:83541061-83541061
10 VCAN-AS1, VCAN NM_004385.5(VCAN):c.5482C>T (p.Pro1828Ser) SNV Uncertain Significance
354427 rs886060823 GRCh37: 5:82834304-82834304
GRCh38: 5:83538485-83538485
11 VCAN NM_004385.5(VCAN):c.930G>A (p.Val310=) SNV Uncertain Significance
354394 rs886060818 GRCh37: 5:82808103-82808103
GRCh38: 5:83512284-83512284
12 VCAN-AS1, VCAN NM_004385.5(VCAN):c.7337C>T (p.Ala2446Val) SNV Uncertain Significance
906505 rs1561257553 GRCh37: 5:82836159-82836159
GRCh38: 5:83540340-83540340
13 VCAN-AS1, VCAN NM_004385.5(VCAN):c.6138A>G (p.Gly2046=) SNV Uncertain Significance
906460 rs1746854455 GRCh37: 5:82834960-82834960
GRCh38: 5:83539141-83539141
14 VCAN-AS1, VCAN NM_004385.5(VCAN):c.9494-9T>G SNV Uncertain Significance
904377 rs1747543997 GRCh37: 5:82849174-82849174
GRCh38: 5:83553355-83553355
15 VCAN-AS1, VCAN NM_004385.5(VCAN):c.7447C>G (p.Pro2483Ala) SNV Uncertain Significance
904189 rs1746926635 GRCh37: 5:82836269-82836269
GRCh38: 5:83540450-83540450
16 VCAN-AS1, VCAN NM_004385.5(VCAN):c.6727A>G (p.Thr2243Ala) SNV Uncertain Significance
904135 rs751656177 GRCh37: 5:82835549-82835549
GRCh38: 5:83539730-83539730
17 VCAN-AS1, VCAN NM_004385.5(VCAN):c.6704A>T (p.His2235Leu) SNV Uncertain Significance
904134 rs1746887068 GRCh37: 5:82835526-82835526
GRCh38: 5:83539707-83539707
18 VCAN-AS1, VCAN NM_004385.5(VCAN):c.4761T>A (p.Val1587=) SNV Uncertain Significance
904001 rs1746783267 GRCh37: 5:82833583-82833583
GRCh38: 5:83537764-83537764
19 VCAN NM_004385.5(VCAN):c.2741G>A (p.Gly914Asp) SNV Uncertain Significance
903869 rs200429289 GRCh37: 5:82816866-82816866
GRCh38: 5:83521047-83521047
20 VCAN-AS1, VCAN NM_004385.5(VCAN):c.6201A>G (p.Glu2067=) SNV Uncertain Significance
354434 rs780184359 GRCh37: 5:82835023-82835023
GRCh38: 5:83539204-83539204
21 VCAN-AS1, VCAN NM_004385.5(VCAN):c.5427C>T (p.His1809=) SNV Uncertain Significance
354426 rs779803420 GRCh37: 5:82834249-82834249
GRCh38: 5:83538430-83538430
22 VCAN NM_004385.5(VCAN):c.-259C>T SNV Uncertain Significance
354383 rs886060813 GRCh37: 5:82767590-82767590
GRCh38: 5:83471771-83471771
23 VCAN NM_004385.5(VCAN):c.*883_*885del DEL Uncertain Significance
354481 rs886060832 GRCh37: 5:82877136-82877138
GRCh38: 5:83581317-83581319
24 VCAN NM_004385.5(VCAN):c.*2C>T SNV Uncertain Significance
354468 rs370984795 GRCh37: 5:82876255-82876255
GRCh38: 5:83580436-83580436
25 VCAN NM_004385.5(VCAN):c.3264A>G (p.Pro1088=) SNV Uncertain Significance
354417 rs767745674 GRCh37: 5:82817389-82817389
GRCh38: 5:83521570-83521570
26 VCAN-AS1, VCAN NM_004385.5(VCAN):c.8064C>T (p.Pro2688=) SNV Uncertain Significance
354454 rs886060827 GRCh37: 5:82836886-82836886
GRCh38: 5:83541067-83541067
27 VCAN NM_004385.5(VCAN):c.*1091C>T SNV Uncertain Significance
354489 rs886060836 GRCh37: 5:82877344-82877344
GRCh38: 5:83581525-83581525
28 VCAN NM_004385.5(VCAN):c.*625G>A SNV Uncertain Significance
907764 rs939870012 GRCh37: 5:82876878-82876878
GRCh38: 5:83581059-83581059
29 VCAN-AS1, VCAN NM_004385.5(VCAN):c.9403C>A (p.Pro3135Thr) SNV Uncertain Significance
907719 rs1747300004 GRCh37: 5:82843813-82843813
GRCh38: 5:83547994-83547994
30 VCAN NM_004385.5(VCAN):c.1112C>T (p.Pro371Leu) SNV Uncertain Significance
906147 rs1745984120 GRCh37: 5:82815237-82815237
GRCh38: 5:83519418-83519418
31 VCAN NM_004385.5(VCAN):c.3202G>A (p.Gly1068Ser) SNV Uncertain Significance
906273 rs1231605869 GRCh37: 5:82817327-82817327
GRCh38: 5:83521508-83521508
32 VCAN-AS1, VCAN NM_004385.5(VCAN):c.4292G>A (p.Arg1431His) SNV Uncertain Significance
906329 rs747887033 GRCh37: 5:82833114-82833114
GRCh38: 5:83537295-83537295
33 VCAN-AS1, VCAN NM_004385.5(VCAN):c.5201C>T (p.Thr1734Met) SNV Uncertain Significance
850338 rs200941140 GRCh37: 5:82834023-82834023
GRCh38: 5:83538204-83538204
34 VCAN NM_004385.5(VCAN):c.*881_*883del DEL Uncertain Significance
354480 rs886060831 GRCh37: 5:82877134-82877136
GRCh38: 5:83581315-83581317
35 VCAN NM_004385.4(VCAN):c.-334C>T SNV Uncertain Significance
354382 rs886060812 GRCh37: 5:82767515-82767515
GRCh38: 5:83471696-83471696
36 VCAN NM_004385.5(VCAN):c.297G>C (p.Gly99=) SNV Uncertain Significance
354389 rs886060817 GRCh37: 5:82786143-82786143
GRCh38: 5:83490324-83490324
37 VCAN-AS1, VCAN NM_004385.5(VCAN):c.5836C>T (p.His1946Tyr) SNV Uncertain Significance
354431 rs886060825 GRCh37: 5:82834658-82834658
GRCh38: 5:83538839-83538839
38 VCAN NM_004385.5(VCAN):c.3046A>G (p.Ile1016Val) SNV Uncertain Significance
905761 rs139937202 GRCh37: 5:82817171-82817171
GRCh38: 5:83521352-83521352
39 VCAN-AS1, VCAN NM_004385.5(VCAN):c.4022G>A (p.Ser1341Asn) SNV Uncertain Significance
905822 rs1746739066 GRCh37: 5:82832844-82832844
GRCh38: 5:83537025-83537025
40 VCAN-AS1, VCAN NM_004385.5(VCAN):c.4805C>A (p.Thr1602Asn) SNV Uncertain Significance
904002 rs1386946213 GRCh37: 5:82833627-82833627
GRCh38: 5:83537808-83537808
41 VCAN-AS1, VCAN NM_004385.5(VCAN):c.7434T>G (p.Thr2478=) SNV Uncertain Significance
907515 rs1746925822 GRCh37: 5:82836256-82836256
GRCh38: 5:83540437-83540437
42 VCAN-AS1, VCAN NM_004385.5(VCAN):c.8052C>T (p.Asp2684=) SNV Uncertain Significance
907575 rs184452501 GRCh37: 5:82836874-82836874
GRCh38: 5:83541055-83541055
43 VCAN-AS1, VCAN NM_004385.5(VCAN):c.4545C>T (p.Ala1515=) SNV Uncertain Significance
907335 rs1746771607 GRCh37: 5:82833367-82833367
GRCh38: 5:83537548-83537548
44 VCAN NM_004385.5(VCAN):c.3340G>A (p.Val1114Met) SNV Uncertain Significance
903935 rs1746106150 GRCh37: 5:82817465-82817465
GRCh38: 5:83521646-83521646
45 VCAN NM_004385.5(VCAN):c.375G>A (p.Ala125=) SNV Uncertain Significance
906080 rs762753715 GRCh37: 5:82786221-82786221
GRCh38: 5:83490402-83490402
46 VCAN NM_004385.5(VCAN):c.*1753C>T SNV Uncertain Significance
906888 rs904583529 GRCh37: 5:82878006-82878006
GRCh38: 5:83582187-83582187
47 VCAN NM_004385.5(VCAN):c.*1717C>T SNV Uncertain Significance
906887 rs537687030 GRCh37: 5:82877970-82877970
GRCh38: 5:83582151-83582151
48 VCAN NM_004385.5(VCAN):c.1240G>A (p.Ala414Thr) SNV Uncertain Significance
907150 rs749795455 GRCh37: 5:82815365-82815365
GRCh38: 5:83519546-83519546
49 VCAN NM_004385.5(VCAN):c.*93G>A SNV Uncertain Significance
906774 rs560274180 GRCh37: 5:82876346-82876346
GRCh38: 5:83580527-83580527
50 VCAN-AS1, VCAN NM_004385.5(VCAN):c.9266-14C>T SNV Uncertain Significance
905111 rs1747170920 GRCh37: 5:82841342-82841342
GRCh38: 5:83545523-83545523

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:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 VEGFA VCAN TNF TGFB1 LRP5 IL6
2
Show member pathways
13.18 VEGFA TNF TGFB1 IL6 FZD4 CTNNB1
3 12.57 VEGFA TGFB1 LRP5 IL6 CTNNB1
4 12.06 CTNNB1 FZD4 LRP5 TGFB1
5 12.04 VEGFA TNF IL6 CTNNB1
6
Show member pathways
11.99 TNF TGFB1 LRP5 CTNNB1
7
Show member pathways
11.98 TGFB1 IL6 FZD4 CTNNB1
8 11.91 TNF TGFB1 IL6 CTNNB1
9
Show member pathways
11.9 TNF TGFB1 CTNNB1
10
Show member pathways
11.83 TNF TGFB1 IL6
11 11.79 VEGFA TNF TGFB1
12 11.77 VEGFA TNF TGFB1 IL6
13 11.72 TGFB1 LRP5 IL6
14 11.69 VEGFA TGFB1 IL6 FZD4
15 11.67 TNF TGFB1 IL6
16 11.66 CTNNB1 LRP5 TGFB1
17 11.65 COL2A1 IL6 TGFB1 VCAN
18 11.63 TGFB1 IL6 CTNNB1
19 11.61 VCAN TNF TGFB1 IL6 COL2A1
20
Show member pathways
11.59 VEGFA TNF IL6
22 11.57 TNF TGFB1 IL6
23
Show member pathways
11.54 TNF TGFB1 IL6
24 11.5 VEGFA TGFB1 IL6
25 11.43 VEGFA TNF TGFB1 IL6
26 11.42 VEGFA TGFB1 IL6
27 11.38 VEGFA TNF TGFB1 LRP5 IL6 FZD4
28 11.12 TNF TGFB1 IL6
29 11.08 VEGFA TNF IL6
30 10.93 VCAN TNF TGFB1 IL6 COL2A1
31 10.8 TNF TGFB1
32 10.73 TGFB1 IL6
33 10.69 VEGFA TNF TGFB1 IL6
34
Show member pathways
10.27 TNF IL6

GO Terms for Vitreoretinopathy

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.16 VEGFA VCAN TNF TGFB1 NDP LRRC32
2 cell surface GO:0009986 9.8 CAPN5 FZD4 LRRC32 NDP TGFB1 TNF
3 extracellular matrix GO:0031012 9.4 VEGFA VCAN TGFB1 NDP LRRC32 COL2A1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.34 CTNNB1 FZD4 IL6 LRP5 NDP TGFB1
2 positive regulation of gene expression GO:0010628 10.29 VEGFA TNF TGFB1 LRRC32 IL6 CTNNB1
3 positive regulation of epithelial to mesenchymal transition GO:0010718 10.04 TGFB1 IL6 CTNNB1
4 positive regulation of MAPK cascade GO:0043410 10.02 CTNNB1 IGFBP6 IL6 TNF VEGFA
5 negative regulation of fat cell differentiation GO:0045599 10.01 TNF TGFB1 IL6
6 chondrocyte differentiation GO:0002062 10 TGFB1 CTNNB1 COL2A1
7 positive regulation of smooth muscle cell proliferation GO:0048661 10 TNF TGFB1 IL6
8 positive regulation of protein-containing complex assembly GO:0031334 9.99 VEGFA TNF TGFB1
9 regulation of angiogenesis GO:0045765 9.95 TSPAN12 IL6 CTNNB1
10 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.95 VEGFA TNF TGFB1 IL6
11 osteoclast differentiation GO:0030316 9.92 TNF TGFB1 CTNNB1
12 vascular endothelial growth factor production GO:0010573 9.88 TNF IL6
13 vasculogenesis GO:0001570 9.87 VEGFA TGFB1 FZD4 CTNNB1
14 retinal blood vessel morphogenesis GO:0061304 9.86 FZD4 LRP5
15 liver regeneration GO:0097421 9.85 TNF TGFB1 IL6
16 negative regulation of neurogenesis GO:0050768 9.83 TNF IL6 CTNNB1
17 positive regulation of mononuclear cell migration GO:0071677 9.72 TGFB1 TNF
18 positive regulation of receptor signaling pathway via STAT GO:1904894 9.71 IL6 TGFB1
19 retina vasculature morphogenesis in camera-type eye GO:0061299 9.65 NDP LRP5 FZD4
20 extracellular matrix-cell signaling GO:0035426 9.63 FZD4 LRP5 NDP
21 positive regulation of miRNA maturation GO:1903800 9.58 TGFB1 IL6
22 Norrin signaling pathway GO:0110135 9.43 NDP LRP5 FZD4
23 positive regulation of DNA-binding transcription factor activity GO:0051091 9.4 TNF NDP LRP5 IL6 FZD4 CTNNB1

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.61 VEGFA TNF TGFB1 NDP IL6
2 Wnt receptor activity GO:0042813 9.02 TSPAN12 LRP5 FZD4

Sources for Vitreoretinopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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