MCID: VTR007
MIFTS: 48

Vitreoretinopathy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Vitreoretinopathy

MalaCards integrated aliases for Vitreoretinopathy:

Name: Vitreoretinopathy 59 29 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 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 PI3K-Akt signaling pathway. The drugs Isotretinoin and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are cardiovascular system and hearing/vestibular/ear

Related Diseases for Vitreoretinopathy

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

(show top 50) (show all 191)
# Related Disease Score Top Affiliating Genes
1 wagner syndrome 33.8 VCAN COL2A1
2 exudative vitreoretinopathy 1 33.2 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
3 norrie disease 31.2 TSPAN12 NDP LRP5 FZD4
4 retinal vascular disease 31.0 ZNF408 TSPAN12 NDP LRP5 FZD4
5 persistent hyperplastic primary vitreous 30.9 TSPAN12 NDP FZD4
6 leukocoria 30.9 NDP LRP5 FZD4
7 retinal detachment 30.9 TSPAN12 NDP LRP5 FZD4 CTNNB1 COL2A1
8 exudative vitreoretinopathy 30.8 ZNF408 TSPAN12 RCBTB1 PRSS23 NDP LRP5
9 vitreous syneresis 30.7 VCAN COL2A1
10 osteoporosis-pseudoglioma syndrome 30.4 NDP LRP5 FZD4 CTNNB1
11 coats disease 30.4 TSPAN12 RCBTB1 NDP LRP5 FZD4
12 vitreoretinal dystrophy 30.1 VCAN COL2A1
13 vitreoretinopathy, neovascular inflammatory 12.9
14 wagner vitreoretinopathy 12.7
15 exudative vitreoretinopathy 2, x-linked 12.7
16 exudative vitreoretinopathy 4 12.7
17 exudative vitreoretinopathy 5 12.7
18 exudative vitreoretinopathy 6 12.6
19 exudative vitreoretinopathy 3 12.6
20 exudative vitreoretinopathy 7 12.5
21 vcan-related vitreoretinopathy 12.3
22 syndromic vitreoretinopathy 12.1
23 isolated vitreoretinopathy 12.1
24 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.5
25 microvascular complications of diabetes 5 10.7
26 microvascular complications of diabetes 1 10.7
27 microvascular complications of diabetes 2 10.7
28 macular holes 10.7
29 uveitis 10.6
30 yemenite deaf-blind hypopigmentation syndrome 10.5
31 myopia 10.5
32 macular retinal edema 10.5
33 cataract 10.5
34 retinal disease 10.5
35 eye disease 10.5
36 ndp-related retinopathies 10.4
37 preretinal fibrosis 10.4
38 vitreous detachment 10.4
39 retinal degeneration 10.4
40 keratopathy 10.3
41 neovascular glaucoma 10.3
42 blind hypotensive eye 10.3
43 vitreoretinal degeneration 10.3
44 intraocular pressure quantitative trait locus 10.3
45 microcephaly 10.3
46 eye degenerative disease 10.2 FZD4 COL2A1
47 retinoblastoma 10.2
48 persistent hyperplastic primary vitreous, autosomal recessive 10.2
49 familial retinoblastoma 10.2
50 hydrops, lactic acidosis, and sideroblastic anemia 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 ABCA4 COL2A1 CTNNB1 FZD4 IL6 LRP5
2 hearing/vestibular/ear MP:0005377 9.73 COL2A1 CTNNB1 FZD4 NDP TP53 TSPAN12
3 pigmentation MP:0001186 9.63 ABCA4 CTNNB1 FZD4 LRP5 NDP TP53
4 skeleton MP:0005390 9.56 ABCA4 COL2A1 CTNNB1 IL6 LRP5 NDP
5 vision/eye MP:0005391 9.28 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 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3 Dermatologic Agents Phase 4
4 Anesthetics, Local Phase 4
5 Central Nervous System Depressants Phase 4
6 Anesthetics Phase 4
7
Colchicine Approved Phase 3 64-86-8 6167 2833
8
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
9
Fluorouracil Approved Phase 3 51-21-8 3385
10
Dalteparin Approved Phase 3 9005-49-6
11
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
12
Ranibizumab Approved Phase 3 347396-82-1 459903
13
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
14
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 54670067 5785
15 Tubulin Modulators Phase 3
16 Antimitotic Agents Phase 3
17 Antirheumatic Agents Phase 3
18 Hormone Antagonists Phase 3
19 Fibrinolytic Agents Phase 3
20 glucocorticoids Phase 3
21 Anti-Inflammatory Agents Phase 3
22 Hormones Phase 3
23 Heparin, Low-Molecular-Weight Phase 3
24 Anticoagulants Phase 3
25 calcium heparin Phase 3
26 Calcium, Dietary Phase 3
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
28 Angiogenesis Inhibitors Phase 3
29 Angiogenesis Modulating Agents Phase 3
30 triamcinolone acetonide Phase 3
31 Triamcinolone hexacetonide Phase 3
32 Triamcinolone diacetate Phase 3
33 Immunologic Factors Phase 3
34 Immunosuppressive Agents Phase 3
35 Pharmaceutical Solutions Phase 3
36 Antimetabolites Phase 3
37 Antimetabolites, Antineoplastic Phase 3
38
Bevacizumab Approved, Investigational Phase 2 216974-75-3
39 Antineoplastic Agents, Immunological Phase 2
40
Timolol Approved 26839-75-8 33624 5478
41
Dorzolamide Approved 120279-96-1 3154 5284549
42
Bimatoprost Approved, Investigational 155206-00-1 5311027
43
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
44
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
45
Racepinephrine Approved Early Phase 1 329-65-7 838
46
Epinephrine Approved, Vet_approved Early Phase 1 51-43-4 5816
47
Iodine Approved, Investigational 7553-56-2 807
48
Povidone-iodine Approved 25655-41-8
49
Povidone Approved 9003-39-8
50
Maleic acid Experimental, Investigational 110-17-8, 110-16-7 444972

Interventional clinical trials:

(show all 35)
# 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 Prophylactic Intravitreal 5-Fluorouracil and Heparin to Prevent PVR in High-risk Patients With Retinal Detachment. Recruiting NCT02834559 Phase 3 5-fluorouracil and low molecular weight heparin;Placebo
13 A Phase 3 Multi-centre Double-masked Randomised Controlled Trial of Adjunctive Intraocular and Periocular Steroid (Triamcinolone Acetonide) Versus Standard Treatment in Eyes Undergoing Vitreoretinal Surgery for Open Globe Trauma. Recruiting NCT02873026 Phase 3 Triamcinolone Acetonide
14 25-Gauge Vitrectomy With Ranibizumab or Triamcinolone Acetonide on Proliferative Diabetic Retinopathy in China: a Randomized, Single Blind Trial Recruiting NCT02447185 Phase 3 Ranibizumab;Triamcinolone Acetonide
15 Intravitreal Decorin Preventing Proliferative Vitreoretinopathy in Perforating Injuries: a Pilot Study. Completed NCT02865031 Phase 1, Phase 2 Decorin
16 A Pilot Study of Peribulbar Triamcinolone Acetonide for Diabetic Macular Edema Completed NCT00369486 Phase 2 40mg triamcinolone;20mg triamcinolone;40mg triamcinolone + laser;20mg triamcinolone + laser
17 Bevacizumab Against Recurrent Retinal Detachment Active, not recruiting NCT02192970 Phase 2 Bevacizumab
18 Evaluation Use Optical Coherence Tomography - Rescan During Dissection of Macular Membranes : Pre and Post Operative Aspects Unknown status NCT02748421
19 Comparison of Two Techniques for Epiretinal or Internal Limiting Membrane Peel. Unknown status NCT00892619
20 Double Endotamponade With Perfluorodecalin and Silicone Oil in Retinal Detachment Surgery: Randomised Clinical Trial of Safety Unknown status NCT01959568
21 A Prospective Pilot Study Evaluating the Effect of Intravitreal Injection of Bevacizumab on Recurrent Retinal Detachment Due to Proliferative Vitreoretinopathy Completed NCT01860586 Bevacizumab
22 Outcomes of Vitrectomy in Pediatric Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT03208205
23 A Prospective, Randomized Study Comparing 1000 Centistoke and 5000 Centistoke Silicone Oil Tamponade for Repair of Proliferative Vitreoretinopathy Retinal Detachments and Diabetic Tractional Retinal Detachments Completed NCT01255293
24 Comparison of Vitrectomy Without Internal Limiting Membrane Peeling Versus Inverted ILM Flap Technique for Macular Hole Retinal Detachment in Highly Myopic Eyes Completed NCT04011007
25 Familial Exudative Vitreoretinopathy Clinical and Molecular Studies Completed NCT00106756
26 Emulsification of Different Viscosity Silicone Oil After Complicated Retinal Detachment Surgery: A Randomized Double-masked Clinical Trial Completed NCT02988583
27 The Influence of Silicone Oil on Nerve Fiber Layer Thickness After Pars Plana Vitrectomy Completed NCT01255306 Local medical treatment of raised intraocular pressure
28 Plasma Levels of Matrix Metalloproteinases and Degree of DNA Fragmentation in Patients With Pseudoexfoliation Syndrome and Open-Angle Glaucoma (PEXG) Completed NCT00327613
29 Adrenocorticotropic Hormone for Intraocular Inflammation in Post-operative Proliferative Vitreoretinopathy Patients Recruiting NCT03727776 Early Phase 1 Adrenocorticotropic Hormone
30 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
31 Visual Outcome Evaluation and Genetic Analysis: Shanghai High Myopia Study Recruiting NCT03062085
32 Silicone Oil Versus Long-acting Gas Tamponade in Proliferative Diabetic Retinopathy Patients With High-grade Vitreoretinal Adhesion Undergoing Vitrectomy Recruiting NCT03660384
33 Pro-permeability and Pro-fibrosis Factors in the Aqueous of Patients With Retinal Diseases Recruiting NCT02688309 Ozurdex
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 Not yet recruiting NCT02871531
35 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:

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

Publications for Vitreoretinopathy

Articles related to Vitreoretinopathy:

(show top 50) (show all 2991)
# Title Authors PMID Year
1
Inactive Cas9 blocks vitreous-induced expression of Mdm2 and proliferation and survival of retinal pigment epithelial cells. 38
31278903 2019
2
Early vitrectomy to reverse macular dragging in a one-month-old boy with familial exudative vitreoretinopathy. 38
31294129 2019
3
Symmetry of folds in FEVR: A genotype-phenotype correlation study. 38
31299183 2019
4
Genetic variants of TSPAN12 gene in patients with retinopathy of prematurity. 38
31009104 2019
5
PEDIATRIC RETINAL DETACHMENT IN AN ASIAN POPULATION WITH HIGH PREVALENCE OF MYOPIA: Clinical Characteristics, Surgical Outcomes, and Prognostic Factors. 38
30015760 2019
6
Vitreous Wiping, a new technique for removal of vitreous cortex remnants during vitrectomy. 38
30536726 2019
7
Vitreoschisis-induced vitreous cortex remnants: missing link in proliferative vitreoretinopathy. 38
31429189 2019
8
Intraocular application of Mitomycin C to prevent proliferative vitreoretinopathy in perforating and severe intraocular foreign body injuries. 38
30918327 2019
9
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials. 38
31403230 2019
10
ETIOLOGY AND CLINICAL CHARACTERISTICS OF MACULAR EDEMA IN PATIENTS WITH FAMILIAL EXUDATIVE VITREORETINOPATHY. 38
31404032 2019
11
Scleral buckling versus vitrectomy for young japanese patients with rhegmatogenous retinal detachment in the era of microincision surgery: real-world evidence from a multicentre study in Japan. 38
30741467 2019
12
Secondary pneumatic retinopexy for failed scleral buckle. 38
31401580 2019
13
Outcomes after Retinal Detachment Resulting from Self-Inflicted Injury. 38
31101550 2019
14
PREDICTIVE FACTORS FOR PROLIFERATIVE VITREORETINOPATHY FORMATION AFTER UNCOMPLICATED PRIMARY RETINAL DETACHMENT REPAIR. 38
29787465 2019
15
Comparative study of penetrating keratoplasty and vitreoretinal surgery with Eckardt temporary keratoprosthesis in ocular trauma versus non-trauma patients. 38
31363832 2019
16
Effect of macrophage migration inhibitory factor on inflammatory cytokines and fibrogenic gene expression in human RPE cells. 38
31180524 2019
17
Limited Vitrectomy in Patients with Idiopathic Macular Hole 38
31318187 2019
18
Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy. 38
31273345 2019
19
Multilaminated Vitreomacular Traction in Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy. 38
31277800 2019
20
Retinal Vascular Abnormalities in Phakomatosis Pigmentovascularis. 38
31420298 2019
21
Correlating Changes in the Macular Microvasculature and Capillary Network to Peripheral Vascular Pathologic Features in Familial Exudative Vitreoretinopathy. 38
31277801 2019
22
CD44 aptamer mediated cargo delivery to lysosomes of retinal pigment epithelial cells to prevent age-related macular degeneration. 38
31080896 2019
23
RECURRENCES OF RETINAL DETACHMENT AFTER RETINECTOMY: Causes and Outcomes. 38
31365519 2019
24
[Retinal detachment in children and adolescents. Specific clinical features]. 38
31321489 2019
25
Microscope-Assisted ab externo Surgery for the Treatment of Primary Rhegmatogenous Retinal Detachment - New Tech Meets Old Art. 38
31352453 2019
26
Diagnosis of complicated FEVR preoperatively and intra-/post-operatively: characteristics and risk factors for diagnostic timing. 38
31176357 2019
27
Clinical and Genetic Features of Familial Exudative Vitreoretinopathy With Only-Unilateral Abnormalities in a Chinese Cohort. 38
31169861 2019
28
Cyclooxygenases inhibitors for preventing the proliferative vitreoretinopathy: Ready for clinical use? 38
31182242 2019
29
Long non-coding RNAs in ocular diseases: new and potential therapeutic targets. 38
30927500 2019
30
Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome. 38
30707941 2019
31
Diagnosis and Management of Familial Exudative Vitreoretinopathy: A Lifelong, Progressive, and Often Asymmetric Disease. 38
31169868 2019
32
NOVEL ENDOSCOPE-ASSISTED VITREOUS SURGERY COMBINED WITH ATMOSPHERIC ENDOSCOPIC TECHNIQUE AND/OR SUBRETINAL ENDOSCOPIC TECHNIQUE FOR RHEGMATOGENOUS RETINAL DETACHMENT WITH GRADE C PROLIFERATIVE VITREORETINOPATHY. 38
29528982 2019
33
Next-Generation Sequencing in the Familial Exudative Vitreoretinopathy-Associated Rhegmatogenous Retinal Detachment. 38
31237656 2019
34
Cytokine profiles of phakic and pseudophakic eyes with primary retinal detachment. 38
30561135 2019
35
Ultra-widefield fundus fluorescein angiography in pediatric retinal vascular diseases. 38
31124488 2019
36
SUBRETINAL ENDOSCOPIC SURGERY TO TREAT LARGE SUBRETINAL HEMORRHAGES SECONDARY TO AGE-RELATED MACULAR DEGENERATION. 38
29370029 2019
37
Intra-silicone Oil Injection of Methotrexate in Retinal Reattachment Surgery for Proliferative Vitreoretinopathy. 38
31136255 2019
38
Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy. 38
31110225 2019
39
Macular Microvascular Findings in Familial Exudative Vitreoretinopathy on Optical Coherence Tomography Angiography. 38
31100165 2019
40
Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly. 38
31077665 2019
41
Statins in ophthalmology. 38
30703407 2019
42
Wnt Signaling in vascular eye diseases. 38
30513356 2019
43
Endoresection utilizing pars plana vitrectomy for benign and malignant intraocular tumors. 38
30883440 2019
44
TRActional DIabetic reTInal detachment surgery with co-adjuvant intravitreal dexamethasONe implant: the TRADITION STUDY. 38
31089929 2019
45
IMPACT OF INNER LIMITING MEMBRANE PEELING ON VISUAL RECOVERY AFTER VITRECTOMY FOR PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT INVOLVING THE FOVEA. 38
29394235 2019
46
Proteomic evidence that ABCA4 is vital for traumatic proliferative vitreoretinopathy formation and development. 38
30738069 2019
47
Mirror image of familial exudative vitreoretinopathy in identical twins. 38
29492729 2019
48
Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution. 38
30988181 2019
49
Adjunctive dexamethasone implant in patients with atopic dermatitis and retinal detachment undergoing vitrectomy and silicone oil tamponade: an interventional case series. 38
30943922 2019
50
A 21-Year Study of Vitreoretinal Surgery for Aphakic Retinal Detachment: Long-Term Surgical Outcomes and Complications. 38
31104986 2019

Variations for Vitreoretinopathy

ClinVar genetic disease variations for Vitreoretinopathy:

6 (show top 50) (show all 160)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TSPAN12 NM_012338.4(TSPAN12): c.100del (p.Trp34fs) deletion Pathogenic rs1554403767 7:120480130-120480130 7:120840076-120840076
2 ABCA4 NM_000350.3(ABCA4): c.6089G> A (p.Arg2030Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61750641 1:94471055-94471055 1:94005499-94005499
3 LRRC32 NM_005512.2(LRRC32): c.1630C> T (p.Arg544Ter) single nucleotide variant Likely pathogenic 11:76371007-76371007 11:76659963-76659963
4 LRP5 NM_002335.4(LRP5): c.2090A> G (p.Lys697Arg) single nucleotide variant Likely pathogenic 11:68174280-68174280 11:68406812-68406812
5 ABCA4 NM_000350.3(ABCA4): c.5908C> T (p.Leu1970Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28938473 1:94473287-94473287 1:94007731-94007731
6 VCAN NM_004385.5(VCAN): c.5859G> T (p.Thr1953=) single nucleotide variant Conflicting interpretations of pathogenicity rs80028865 5:82834681-82834681 5:83538862-83538862
7 VCAN NM_004385.5(VCAN): c.6767T> C (p.Leu2256Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs146630369 5:82835589-82835589 5:83539770-83539770
8 VCAN NM_004385.5(VCAN): c.6902T> G (p.Phe2301Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs160278 5:82835724-82835724 5:83539905-83539905
9 VCAN NM_004385.5(VCAN): c.-135G> A single nucleotide variant Uncertain significance rs886060814 5:82767714-82767714 5:83471895-83471895
10 VCAN NM_004385.5(VCAN): c.930G> A (p.Val310=) single nucleotide variant Uncertain significance rs886060818 5:82808103-82808103 5:83512284-83512284
11 VCAN NM_004385.5(VCAN): c.2937C> T (p.Pro979=) single nucleotide variant Uncertain significance rs886060819 5:82817062-82817062 5:83521243-83521243
12 VCAN NM_004385.5(VCAN): c.3067A> G (p.Thr1023Ala) single nucleotide variant Uncertain significance rs886060820 5:82817192-82817192 5:83521373-83521373
13 VCAN NM_004385.5(VCAN): c.3956A> G (p.His1319Arg) single nucleotide variant Uncertain significance rs886060822 5:82818081-82818081 5:83522262-83522262
14 VCAN NM_004385.5(VCAN): c.4236T> C (p.Asn1412=) single nucleotide variant Uncertain significance rs752922531 5:82833058-82833058 5:83537239-83537239
15 VCAN NM_004385.5(VCAN): c.4248C> T (p.Leu1416=) single nucleotide variant Uncertain significance rs758617685 5:82833070-82833070 5:83537251-83537251
16 VCAN NM_004385.5(VCAN): c.-75A> G single nucleotide variant Uncertain significance rs886060816 5:82767774-82767774 5:83471955-83471955
17 VCAN NM_004385.5(VCAN): c.5482C> T (p.Pro1828Ser) single nucleotide variant Uncertain significance rs886060823 5:82834304-82834304 5:83538485-83538485
18 VCAN NM_004385.5(VCAN): c.8058A> C (p.Leu2686Phe) single nucleotide variant Uncertain significance rs780717994 5:82836880-82836880 5:83541061-83541061
19 VCAN NM_004385.5(VCAN): c.8064C> T (p.Pro2688=) single nucleotide variant Uncertain significance rs886060827 5:82836886-82836886 5:83541067-83541067
20 VCAN NM_004385.5(VCAN): c.5801T> G (p.Phe1934Cys) single nucleotide variant Uncertain significance rs886060824 5:82834623-82834623 5:83538804-83538804
21 VCAN NM_004385.5(VCAN): c.7035G> A (p.Thr2345=) single nucleotide variant Uncertain significance rs200757689 5:82835857-82835857 5:83540038-83540038
22 VCAN NM_004385.5(VCAN): c.*905_*912del deletion Uncertain significance rs886060834 5:82877158-82877165 5:83581339-83581346
23 VCAN NM_004385.5(VCAN): c.*1031T> C single nucleotide variant Uncertain significance rs548595991 5:82877284-82877284 5:83581465-83581465
24 VCAN NM_004385.5(VCAN): c.*1091C> T single nucleotide variant Uncertain significance rs886060836 5:82877344-82877344 5:83581525-83581525
25 VCAN NM_004385.5(VCAN): c.-259C> T single nucleotide variant Uncertain significance rs886060813 5:82767590-82767590 5:83471771-83471771
26 VCAN NM_004385.5(VCAN): c.109T> G (p.Ser37Ala) single nucleotide variant Uncertain significance rs142740596 5:82785955-82785955 5:83490136-83490136
27 VCAN NM_004385.5(VCAN): c.3103T> G (p.Phe1035Val) single nucleotide variant Uncertain significance rs886060821 5:82817228-82817228 5:83521409-83521409
28 VCAN NM_004385.5(VCAN): c.5427C> T (p.His1809=) single nucleotide variant Uncertain significance rs779803420 5:82834249-82834249 5:83538430-83538430
29 VCAN NM_004385.5(VCAN): c.6201A> G (p.Glu2067=) single nucleotide variant Uncertain significance rs780184359 5:82835023-82835023 5:83539204-83539204
30 VCAN NM_004385.5(VCAN): c.7895C> T (p.Thr2632Ile) single nucleotide variant Uncertain significance rs767660495 5:82836717-82836717 5:83540898-83540898
31 VCAN NM_004385.5(VCAN): c.8063C> T (p.Pro2688Leu) single nucleotide variant Uncertain significance rs755806449 5:82836885-82836885 5:83541066-83541066
32 VCAN NM_004385.5(VCAN): c.8454G> A (p.Ala2818=) single nucleotide variant Uncertain significance rs773474075 5:82837276-82837276 5:83541457-83541457
33 VCAN NM_004385.5(VCAN): c.*883_*885del deletion Uncertain significance rs886060832 5:82877136-82877138 5:83581317-83581319
34 VCAN NM_004385.5(VCAN): c.*898_*905delinsG indel Uncertain significance rs886060833 5:82877151-82877158 5:83581332-83581339
35 VCAN NM_001164097.1(VCAN): c.-334C> T single nucleotide variant Uncertain significance rs886060812 5:82767515-82767515 5:83471696-83471696
36 VCAN NM_004385.5(VCAN): c.-89T> C single nucleotide variant Uncertain significance rs886060815 5:82767760-82767760 5:83471941-83471941
37 VCAN NM_004385.5(VCAN): c.297G> C (p.Gly99=) single nucleotide variant Uncertain significance rs886060817 5:82786143-82786143 5:83490324-83490324
38 VCAN NM_004385.5(VCAN): c.5836C> T (p.His1946Tyr) single nucleotide variant Uncertain significance rs886060825 5:82834658-82834658 5:83538839-83538839
39 VCAN NM_004385.5(VCAN): c.3204C> T (p.Gly1068=) single nucleotide variant Uncertain significance rs142805131 5:82817329-82817329 5:83521510-83521510
40 VCAN NM_004385.5(VCAN): c.3264A> G (p.Pro1088=) single nucleotide variant Uncertain significance rs767745674 5:82817389-82817389 5:83521570-83521570
41 VCAN NM_004385.5(VCAN): c.*2C> T single nucleotide variant Uncertain significance rs370984795 5:82876255-82876255 5:83580436-83580436
42 VCAN NM_004385.5(VCAN): c.*446T> C single nucleotide variant Uncertain significance rs886060829 5:82876699-82876699 5:83580880-83580880
43 VCAN NM_004385.5(VCAN): c.*881_*883del deletion Uncertain significance rs886060831 5:82877134-82877136 5:83581315-83581317
44 VCAN NM_004385.5(VCAN): c.*905A> G single nucleotide variant Uncertain significance rs796702160 5:82877158-82877158 5:83581339-83581339
45 VCAN NM_004385.5(VCAN): c.*909del deletion Uncertain significance rs886060835 5:82877162-82877162 5:83581343-83581343
46 VCAN NM_004385.5(VCAN): c.*1408G> A single nucleotide variant Uncertain significance rs886060837 5:82877661-82877661 5:83581842-83581842
47 VCAN NM_004385.5(VCAN): c.6169A> C (p.Arg2057=) single nucleotide variant Uncertain significance rs886060826 5:82834991-82834991 5:83539172-83539172
48 VCAN NM_004385.5(VCAN): c.*160A> G single nucleotide variant Uncertain significance rs886060828 5:82876413-82876413 5:83580594-83580594
49 VCAN NM_004385.5(VCAN): c.*813_*816dup duplication Uncertain significance rs140261411 5:82877066-82877069 5:83581247-83581250
50 VCAN NM_004385.5(VCAN): c.9481C> G (p.Leu3161Val) single nucleotide variant Uncertain significance rs765359111 5:82843891-82843891 5:83548072-83548072

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 VCAN TP53 LRP5 IL6 FZD4 CXCL8
2
Show member pathways
12.8 TP53 IL6 FZD4 CTNNB1 COL2A1
3 12.36 TP53 LRP5 IL6 FZD4 CXCL8 CTNNB1
4 12.18 TP53 LRP5 FZD4 CTNNB1
5
Show member pathways
12.09 TP53 LRP5 FZD4 CTNNB1
6 12.07 TP53 IL6 FZD4 CTNNB1
7
Show member pathways
12.05 TP53 LRP5 FZD4 CTNNB1
8
Show member pathways
11.79 TP53 LRP5 FZD4 CTNNB1
9 11.78 TP53 IL6 CXCL8
10 11.75 TP53 FZD4 CTNNB1
11 11.71 TP53 IL6 CXCL8
12 11.57 TP53 LRP5 IL6 FZD4 CTNNB1
13 11.55 TP53 IL6 CXCL8
14 11.48 VCAN CXCL8 CTNNB1
15 11.33 VCAN CXCL8 COL2A1
16 11.21 TP53 IL6 CXCL8
17 11.1 VCAN TP53 IL6 CXCL8 COL2A1
18 10.85 IL6 CXCL8

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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.85 TP53 NDP LRP5 IL6 FZD4 CTNNB1
2 positive regulation of osteoblast differentiation GO:0045669 9.63 LRP5 IL6 CTNNB1
3 regulation of angiogenesis GO:0045765 9.5 TSPAN12 IL6 CTNNB1
4 gastrulation with mouth forming second GO:0001702 9.48 LRP5 CTNNB1
5 positive regulation of DNA-binding transcription factor activity GO:0051091 9.46 NDP IL6 FZD4 CTNNB1
6 retinal blood vessel morphogenesis GO:0061304 9.43 LRP5 FZD4
7 retina vasculature morphogenesis in camera-type eye GO:0061299 9.4 NDP FZD4
8 Wnt signaling pathway GO:0016055 9.35 TSPAN12 NDP LRP5 FZD4 CTNNB1
9 extracellular matrix-cell signaling GO:0035426 9.26 NDP FZD4
10 canonical Wnt signaling pathway GO:0060070 8.92 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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