Vitreoretinopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: VTR007 MIFTS: 46	Vitreoretinopathy Categories: Eye diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

Sources

Aliases & Classifications for Vitreoretinopathy

MalaCards integrated aliases for Vitreoretinopathy:

Name: Vitreoretinopathy ⁵⁸ ²⁹ ⁶

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare eye diseases

External Ids:

Orphanet ⁵⁸ ORPHA98668

Sources

Summaries for Vitreoretinopathy

MalaCards based summary : Vitreoretinopathy is related to wagner syndrome and exudative vitreoretinopathy 1. An important gene associated with Vitreoretinopathy is TSPAN12 (Tetraspanin 12), and among its related pathways/superpathways are ERK Signaling and Transcription Androgen Receptor nuclear signaling. The drugs Isotretinoin and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are cardiovascular system and hearing/vestibular/ear

Sources

Related Diseases for Vitreoretinopathy

Diseases in the Vitreoretinopathy family:

Vcan-Related Vitreoretinopathy

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

(show top 50) (show all 171)

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

Graphical network of the top 20 diseases related to Vitreoretinopathy:

Sources

Symptoms & Phenotypes for Vitreoretinopathy

MGI Mouse Phenotypes related to Vitreoretinopathy:

⁴⁵

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

Sources

Drugs & Therapeutics for Vitreoretinopathy

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

(show top 50) (show all 81)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Isotretinoin

Approved

Phase 4

4759-48-2

5538 5282379

Bupivacaine

Approved, Investigational

Phase 4

38396-39-3, 2180-92-9

2474

Dermatologic Agents

Phase 4

Anesthetics, Local

Phase 4

Anesthetics

Phase 4

Colchicine

Approved

Phase 3

64-86-8

6167 2833

Heparin

Approved, Investigational

Phase 3

9005-49-6

772 46507594

Dalteparin

Approved

Phase 3

9005-49-6

Fluorouracil

Approved

Phase 3

51-21-8

3385

Triamcinolone

Approved, Vet_approved

Phase 3

124-94-7

31307

Methotrexate

Approved

Phase 3

1959-05-2, 59-05-2

126941

leucovorin

Approved

Phase 3

58-05-9

6006 143

Ranibizumab

Approved

Phase 3

347396-82-1

459903

Calcium

Approved, Nutraceutical

Phase 3

7440-70-2

271

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 3

59-30-3

6037

Vitamin C

Approved, Nutraceutical

Phase 3

50-81-7

5785 54670067

Antimitotic Agents

Phase 3

Antirheumatic Agents

Phase 3

Fibrinolytic Agents

Phase 3

Heparin, Low-Molecular-Weight

Phase 3

Anti-Inflammatory Agents

Phase 3

Hormone Antagonists

Phase 3

Anticoagulants

Phase 3

Calcium, Dietary

Phase 3

calcium heparin

Phase 3

glucocorticoids

Phase 3

Hormones

Phase 3

Angiogenesis Inhibitors

Phase 3

Triamcinolone diacetate

Phase 3

Immunologic Factors

Phase 3

Triamcinolone hexacetonide

Phase 3

triamcinolone acetonide

Phase 3

Immunosuppressive Agents

Phase 3

Folic Acid Antagonists

Phase 3

Vitamin B Complex

Phase 3

Vitamin B9

Phase 3

Folate

Phase 3

Antimetabolites

Phase 3

Pharmaceutical Solutions

Phase 3

Bevacizumab

Approved, Investigational

Phase 2

216974-75-3

Antineoplastic Agents, Immunological

Phase 2

Timolol

Approved

26839-75-8

33624 5478

Dorzolamide

Approved

120279-96-1

3154 5284549

Bimatoprost

Approved, Investigational

155206-00-1

5311027

Dexamethasone

Approved, Investigational, Vet_approved

50-02-2

5743

Dexamethasone acetate

Approved, Investigational, Vet_approved

1177-87-3

Epinephrine

Approved, Vet_approved

Early Phase 1

51-43-4

5816

Racepinephrine

Approved

Early Phase 1

329-65-7

838

Povidone

Approved

9003-39-8

Iodine

Approved, Investigational

7553-56-2

807

Interventional clinical trials:

(show all 38)

#	Name	Status	NCT ID	Phase	Drugs
1	Determining the Effect of Low-dose Isotretinoin on Proliferative Vitreoretinopathy	Completed	NCT01445028	Phase 4	Isotretinoin
2	The Effects of Triamcinolone Acetonide With Retrobulbar Anesthesia on Postoperative Pain Control Following Vitreoretinal Surgery	Completed	NCT01995045	Phase 4	Triamcinolone;Bupivicaine Hydrochloride
3	Efficacy of Oral Colchicine in Prevention of Proliferative Vitreoretinopathy in Rhegmatogenous Retinal Detachment	Unknown status	NCT00370201	Phase 3	colchicine
4	Oral Colchicine Combined With Intravitreal Infusion of Dexamethasone, LMW Heparin and 5-FU for Management of Proliferative Vitreoretinopathy (PVR)	Unknown status	NCT00370760	Phase 3	oral colchicine, dexamethasone, low molecular weight heparin, 5-FU;placebo
5	The Effect of 5-FU and LMW Heparin on the Rate of Retinal Redetachment After Silicone Oil Removal in Cases of PVR	Unknown status	NCT00371020	Phase 3	low molecular weight heparin, 5-FU
6	Comparison of Two High-Density Silicone Oils in Complicated Rhegmatogenous Retinal Detachment	Unknown status	NCT00403702	Phase 2, Phase 3	Oxane HD [oil-RMN3-mixture];Densiron [(F6H8)
7	Surgical Management of Pseudophakic and Aphakic Retinal Detachment; a Randomized Clinical Trial	Unknown status	NCT00370279	Phase 3
8	25-Gauge Vitrectomy Combine With Ranibizumab or Triamcinolone Acetonide on Proliferative Diabetic Retinopathy in Chinese Patients	Unknown status	NCT02328118	Phase 2, Phase 3	Ranibizumab;Triamcinolone Acetonide
9	Triamcinolone Acetonide in Silicone-Filled Eyes as Adjunctive Treatment for Proliferative Vitreoretinopathy	Completed	NCT00373282	Phase 3	Triamcinolone acetonide
10	The Silicone Study	Completed	NCT00000140	Phase 3	Perfluoropropane;Sulfur Hexafluoride;Silicone Oil
11	Intravitreal Ranibizumab or Triamcinolone Acetonide as Adjunctive Treatment to Panretinal Photocoagulation for Proliferative Diabetic Retinopathy	Completed	NCT00445003	Phase 3	Ranibizumab;Triamcinolone Acetonide
12	The GUARD Trial - Part 1: A Phase 3 Clinical Trial of Repeated Intravitreal Injections of ADX-2191 Versus Standard-of-Care for Prevention of Proliferaivie Vitreoretinopathy	Recruiting	NCT04136366	Phase 3	ADX-2191 (intravitreal methotrexate 0.8%)
13	Prophylactic Intravitreal 5-Fluorouracil and Heparin to Prevent PVR in High-risk Patients With Retinal Detachment.	Recruiting	NCT02834559	Phase 3	5-fluorouracil and low molecular weight heparin;Placebo
14	A Phase 3 Multi-centre Double-masked Randomised Controlled Trial of Adjunctive Intraocular and Periocular Steroid (Triamcinolone Acetonide) Versus Standard Treatment in Eyes Undergoing Vitreoretinal Surgery for Open Globe Trauma.	Recruiting	NCT02873026	Phase 3	Triamcinolone Acetonide
15	25-Gauge Vitrectomy With Ranibizumab or Triamcinolone Acetonide on Proliferative Diabetic Retinopathy in China: a Randomized, Single Blind Trial	Recruiting	NCT02447185	Phase 3	Ranibizumab;Triamcinolone Acetonide
16	Intravitreal Decorin Preventing Proliferative Vitreoretinopathy in Perforating Injuries: a Pilot Study.	Completed	NCT02865031	Phase 1, Phase 2	Decorin
17	A Pilot Study of Peribulbar Triamcinolone Acetonide for Diabetic Macular Edema	Completed	NCT00369486	Phase 2	40mg triamcinolone;20mg triamcinolone;40mg triamcinolone + laser;20mg triamcinolone + laser
18	Bevacizumab Against Recurrent Retinal Detachment	Active, not recruiting	NCT02192970	Phase 2	Bevacizumab
19	Evaluation Use Optical Coherence Tomography - Rescan During Dissection of Macular Membranes : Pre and Post Operative Aspects	Unknown status	NCT02748421
20	Comparison of Two Techniques for Epiretinal or Internal Limiting Membrane Peel.	Unknown status	NCT00892619
21	Double Endotamponade With Perfluorodecalin and Silicone Oil in Retinal Detachment Surgery: Randomised Clinical Trial of Safety	Unknown status	NCT01959568
22	A Prospective Pilot Study Evaluating the Effect of Intravitreal Injection of Bevacizumab on Recurrent Retinal Detachment Due to Proliferative Vitreoretinopathy	Completed	NCT01860586		Bevacizumab
23	Outcomes of Vitrectomy in Pediatric Retinal Detachment With Proliferative Vitreoretinopathy	Completed	NCT03208205
24	A Prospective, Randomized Study Comparing 1000 Centistoke and 5000 Centistoke Silicone Oil Tamponade for Repair of Proliferative Vitreoretinopathy Retinal Detachments and Diabetic Tractional Retinal Detachments	Completed	NCT01255293
25	Perfluorocarbone Liquids for Tamponading Lower Retinal Breaks to Achieve Retinal Reattachment in Eyes of Retinal Detachment With Proliferative Vitreoretinopathy	Completed	NCT04168255
26	Comparison of Vitrectomy Without Internal Limiting Membrane Peeling Versus Inverted ILM Flap Technique for Macular Hole Retinal Detachment in Highly Myopic Eyes	Completed	NCT04011007
27	Familial Exudative Vitreoretinopathy Clinical and Molecular Studies	Completed	NCT00106756
28	Emulsification of Different Viscosity Silicone Oil After Complicated Retinal Detachment Surgery: A Randomized Double-masked Clinical Trial	Completed	NCT02988583
29	The Influence of Silicone Oil on Nerve Fiber Layer Thickness After Pars Plana Vitrectomy	Completed	NCT01255306		Local medical treatment of raised intraocular pressure
30	Plasma Levels of Matrix Metalloproteinases and Degree of DNA Fragmentation in Patients With Pseudoexfoliation Syndrome and Open-Angle Glaucoma (PEXG)	Completed	NCT00327613
31	Adrenocorticotropic Hormone for Intraocular Inflammation in Post-operative Proliferative Vitreoretinopathy Patients	Recruiting	NCT03727776	Early Phase 1	Adrenocorticotropic Hormone
32	An Observational Study of Retinal Function and Structure After Repair of Macula-involving Retinal Detachment Complicated by Proliferative Vitreoretinopathy (RDPVR) Using Adaptive Optics	Recruiting	NCT03551574
33	Visual Outcome Evaluation and Genetic Analysis: Shanghai High Myopia Study	Recruiting	NCT03062085
34	A Randomized Controlled Trial Comparing Pneumatic Retinopexy Versus Vitrectomy for the Management of Primary Retinal Detachment in Patients With Extended Criteria; Anatomical Success, Functional Success and Impact on Patient Quality of Life	Recruiting	NCT02871531
35	Silicone Oil Versus Long-acting Gas Tamponade in Proliferative Diabetic Retinopathy Patients With High-grade Vitreoretinal Adhesion Undergoing Vitrectomy	Recruiting	NCT03660384
36	Pro-permeability and Pro-fibrosis Factors in the Aqueous of Patients With Retinal Diseases	Recruiting	NCT02688309		Ozurdex
37	Surgical Retinotomy for the Treatment of Glaucoma	Not yet recruiting	NCT03798145
38	A Randomized controllEd Trial Comparing Pneumatic Retinopexy Versus Pars plAna Vitrectomy for the Management of Primary Retinal Detachment: Retinal Displacement Rates and Impact on Patient Quality of Life: The REVEAL Study	Not yet recruiting	NCT04158622

Search NIH Clinical Center for Vitreoretinopathy

Sources

Genetic Tests for Vitreoretinopathy

Genetic tests related to Vitreoretinopathy:

#	Genetic test	Affiliating Genes
1	Vitreoretinopathy ²⁹

Sources

Anatomical Context for Vitreoretinopathy

MalaCards organs/tissues related to Vitreoretinopathy:

⁴⁰

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

Sources

Publications for Vitreoretinopathy

Articles related to Vitreoretinopathy:

(show top 50) (show all 3055)

#	Title	Authors	PMID	Year
1	Bilateral rhegmatogenous retinal detachments from giant retinal tears in an infant with abusive head trauma and Stickler syndrome. ⁶¹	Ebert JJ...Sisk RA	31909295	2020
2	The effect of infliximab and octreotide on cytokine levels experimental proliferative vitreoretinopathy. ⁶¹	Savur F...Ilhan N	31809602	2020
3	Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature. ⁶¹	Coussa RG...Traboulsi EI	32039639	2020
4	[Retinal detachment in children and adolescents. Specific clinical features]. ⁶¹	Bier C...Rudolph G	31321489	2020
5	ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY FOR RETINAL DETACHMENT WITH PROLIFERATIVE VITREORETINOPATHY. ⁶¹	Takahashi H...Ohno-Matsui K	32032288	2020
6	Protein Kinase A Inhibitor H89 Attenuates Experimental Proliferative Vitreoretinopathy. ⁶¹	Lyu Y...Xu GT	32031573	2020
7	Indications, Findings, and Outcomes of Pars Plana Vitrectomy after Open Globe Injury. ⁶¹	Ung C...Eliott D	31732470	2020
8	Proliferative vitreoretinopathy: revised concepts of pathogenesis and adjunctive treatment. ⁶¹	Charteris DG	31776451	2020
9	KRT8 phosphorylation regulates the epithelial-mesenchymal transition in retinal pigment epithelial cells through autophagy modulation. ⁶¹	Miao Q...Ye J	32022439	2020
10	A brief review of the histopathology of proliferative vitreoretinopathy (PVR). ⁶¹	Mudhar HS	31792351	2020
11	Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India. ⁶¹	Zhu X...Zhu X	31999491	2020
12	Pediatric Idiopathic Basal Ganglia Calcification and Spherocytosis With Chromosome 8p11 Deletion. ⁶¹	Morris M...Chen L	31913475	2020
13	Outcomes of surgery in eyes with familial exudative vitreoretinopathyassociated retinal detachment. ⁶¹	Sen P...Gopal L	31941588	2020
14	Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1. ⁶¹	Magliyah MS...Schatz P	31607522	2020
15	COMPARISON BETWEEN RELEASABLE SCLERAL BUCKLING AND VITRECTOMY IN PATIENTS WITH PHAKIC PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT. ⁶¹	Zhao X...Lu L	30300265	2020
16	SURGICAL OUTCOMES OF 25-GAUGE PARS PLANA VITRECTOMY USING AIR AS AN INTERNAL TAMPONADE FOR PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT. ⁶¹	Li Y...Liu N	31922498	2020
17	Microscope-Assisted ab externo Surgery for the Treatment of Primary Rhegmatogenous Retinal Detachment - New Tech Meets Old Art. ⁶¹	Frisina R...Parolini B	31352453	2020
18	Outcome of relaxing retinectomies in management of failed rhegmatogenous retinal detachment surgery cases with proliferative vitreoretinopathy changes. ⁶¹	Bhatta S...Thakur A	31992860	2020
19	Idelalisib inhibits vitreous-induced Akt activation and proliferation of retinal pigment epithelial cells from epiretinal membranes. ⁶¹	Xin T...Lei H	31786159	2020
20	MACULAR HOLE IN A YOUNG PATIENT AFFECTED BY FAMILIAL EXUDATIVE VITREORETINOPATHY. ⁶¹	Bochicchio S...Staurenghi G	28850050	2020
21	Comparison Between Silicone Oil and Gas in Tamponading Giant Retinal Breaks. ⁶¹	Moharram HM...Abdelkader MF	32021077	2020
22	Clinical characteristics and visual outcomes of work-related open globe injuries in Japanese patients. ⁶¹	Morikawa S...Japan-Clinical Research of Study (J-CREST) group	31988287	2020
23	The spectrum of genetic mutations in patients with asymptomatic mild familial exudative vitreoretinopathy. ⁶¹	Chen C...Ding X	31987760	2020
24	Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature. ⁶¹	Staropoli PC...Berrocal AM	31978232	2020
25	A mouse model for Kinesin Family Member 11 (Kif11)-associated familial exudative vitreoretinopathy. ⁶¹	Wang Y...Nathans J	31993640	2020
26	Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy. ⁶¹	Zhang L...Yang Z	31273345	2020
27	Melatonin attenuates epidermal growth factor-induced cathepsin S expression in ARPE-19 cells: Implications for proliferative vitreoretinopathy. ⁶¹	Yang SF...Hsieh YH	31605630	2020
28	Comparative Biochemical Outcomes, Effectiveness and Tolerance of Densiron 68 and Oxane HD for the Management of Complicated Retinal Detachment ⁶¹	Keilani C...Ayello-Scheer S	31893589	2019
29	Role of internal limiting membrane peeling in the prevention of epiretinal membrane formation following vitrectomy for retinal detachment: a randomised trial. ⁶¹	Kumar V...Kumar A	31843791	2019
30	Retinal re-detachments after removal of silicone oil: Frequency and timings in a retrospective clinical study. ⁶¹	Adhi MI...Siyal N	31853111	2019
31	REPAIR OF COMBINED TRACTION-RHEGMATOGENOUS RETINAL DETACHMENT AFTER CRYOABLATION OF A RETINAL CAPILLARY HEMANGIOBLASTOMA. ⁶¹	DeSouza PJ...Greven CM	31842046	2019
32	ANALYSIS OF TIME TO FAILURE AFTER RETINAL DETACHMENT SURGERY. ⁶¹	Heath Jeffery RC...Essex RW	31851051	2019
33	Factors of Retinal Re-detachment and Visual Outcome after Intraocular Silicone Oil Removal in Silicone Oil-filled Eyes. ⁶¹	Hu SQ...Zhu LP	31744338	2019
34	A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family. ⁶¹	Bao Y...Zhang G	31821093	2019
35	Pars plana vitrectomy combined with scleral buckle versus pars plana vitrectomy for giant retinal tear. ⁶¹	Gutierrez M...Graue F	31840810	2019
36	The Interplay Between E-Cadherin, Connexin 43, and Zona Occludens 1 in Retinal Pigment Epithelial Cells. ⁶¹	Bao H...Wang F	31826237	2019
37	Frizzled 4 regulates ventral blood vessel remodeling in the zebrafish retina. ⁶¹	Caceres L...Berman JN	31566834	2019
38	Blockade of MDM2 with inactive Cas9 prevents epithelial to mesenchymal transition in retinal pigment epithelial cells. ⁶¹	Liu B...Lei H	31439892	2019
39	Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape. ⁶¹	Milhem RM...Ali BR	31892318	2019
40	Retinal Vascular Abnormalities in Phakomatosis Pigmentovascularis. ⁶¹	Thanos A...Trese MT	31420298	2019
41	CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials. ⁶¹	Wert KJ...Mahajan VB	31403230	2019
42	Exogenous endophthalmitis caused by Enterococcus casseliflavus: A case report. ⁶¹	Bao QD...Tian X	31799321	2019
43	PPV, Retinectomy, and Silicone Oil Without Scleral Buckle for Recurrent RRD From Proliferative Vitreoretinopathy. ⁶¹	Deaner JD...Regillo CD	31755979	2019
44	Comparative study of penetrating keratoplasty and vitreoretinal surgery with Eckardt temporary keratoprosthesis in ocular trauma versus non-trauma patients. ⁶¹	Bove Alvarez M...Garcia-Arumi J	31363832	2019
45	INTRAOPERATIVE OCULAR MANOMETRY IN SILICONE OIL-FILLED EYES WITH A BOSTON TYPE 1 KERATOPROSTHESIS. ⁶¹	Toygar O...Riemann CD	30015766	2019
46	Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy. ⁶¹	Park H...Adams RH	31748531	2019
47	Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families. ⁶¹	Xu H...Zhang L	31765079	2019
48	Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. ⁶¹	Hull S...Michaelides M	31077665	2019
49	Role of blue fundus autofluorescence imaging in differentiating Coats disease from familial exudative vitreoretinopathy. ⁶¹	Saurabh K...Chowdhury M	31729069	2019
50	Histopathological Changes and Clinical Outcomes following Intervention for Sub-Internal Limiting Membrane Haemorrhage. ⁶¹	Hussain RN...Wong D	31743895	2019

Sources

Genes for Vitreoretinopathy

Genes related to Vitreoretinopathy (2 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TSPAN12	Tetraspanin 12	Protein Coding	427.41	Pathogenic ⁶ GeneCards inferred via : Disorders Publications Variants (show sections)
2	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	414.86	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)
3	LRP5	LDL Receptor Related Protein 5	Protein Coding	47.06	GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
4	NDP	Norrin Cystine Knot Growth Factor NDP	Protein Coding	46.25	GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
5	FZD4	Frizzled Class Receptor 4	Protein Coding	38.02	GeneCards inferred via : Disorders Publications Gene name Variants (show sections)
6	ZNF408	Zinc Finger Protein 408	Protein Coding	35.29	GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
7	CAPN5	Calpain 5	Protein Coding	34.32	GeneCards inferred via : Disorders Publications Gene name Variants (show sections)
8	VCAN	Versican	Protein Coding	28.09	GeneCards inferred via : Disorders Publications Variants (show sections)
9	CTNNB1	Catenin Beta 1	Protein Coding	25.13	GeneCards inferred via : Disorders Publications Variants (show sections)
10	EVR3	Exudative Vitreoretinopathy 3	Genetic Locus	15.72	GeneCards inferred via : Publications Gene name (show sections)
11	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	14.48	GeneCards inferred via : Publications Variants (show sections)
12	RCBTB1	RCC1 And BTB Domain Containing Protein 1	Protein Coding	14.17	GeneCards inferred via : Publications Variants (show sections)
13	PRSS23	Serine Protease 23	Protein Coding	8.83	GeneCards inferred via : Variants (show sections)
14	VCAN-AS1	VCAN Antisense RNA 1	RNA Gene	8.69	GeneCards inferred via : Variants (show sections)
15	NDP-AS1	NDP Antisense RNA 1	RNA Gene	7.53	GeneCards inferred via : Variants (show sections)
16	IL6	Interleukin 6	Protein Coding	7.23	GeneCards inferred via : Publications (show sections)
17	CDH23	Cadherin Related 23	Protein Coding	6.9	GeneCards inferred via : Variants (show sections)

Sources

Variations for Vitreoretinopathy

ClinVar genetic disease variations for Vitreoretinopathy:

⁶ (show top 50) (show all 160) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TSPAN12	NM_012338.4(TSPAN12):c.100del (p.Trp34fs)	deletion	Pathogenic	523501	rs1554403767	7:120480130-120480130	7:120840076-120840076
2	ABCA4	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	SNV	Pathogenic/Likely pathogenic	99428	rs61750641	1:94471055-94471055	1:94005499-94005499
3	LRRC32	NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter)	SNV	Likely pathogenic	545640	rs369867819	11:76371007-76371007	11:76659963-76659963
4	LRP5	NM_002335.4(LRP5):c.2090A>G (p.Lys697Arg)	SNV	Likely pathogenic	560373	rs1565083843	11:68174280-68174280	11:68406812-68406812
5	VCAN	NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)	SNV	Conflicting interpretations of pathogenicity	198801	rs160278	5:82835724-82835724	5:83539905-83539905
6	VCAN	NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)	SNV	Conflicting interpretations of pathogenicity	198796	rs146630369	5:82835589-82835589	5:83539770-83539770
7	VCAN	NM_004385.5(VCAN):c.5859G>T (p.Thr1953=)	SNV	Conflicting interpretations of pathogenicity	167825	rs80028865	5:82834681-82834681	5:83538862-83538862
8	ABCA4	NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	SNV	Conflicting interpretations of pathogenicity	7892	rs28938473	1:94473287-94473287	1:94007731-94007731
9	VCAN	NM_004385.5(VCAN):c.3103T>G (p.Phe1035Val)	SNV	Uncertain significance	354413	rs886060821	5:82817228-82817228	5:83521409-83521409
10	VCAN	NM_004385.5(VCAN):c.5427C>T (p.His1809=)	SNV	Uncertain significance	354426	rs779803420	5:82834249-82834249	5:83538430-83538430
11	VCAN	NM_004385.5(VCAN):c.6201A>G (p.Glu2067=)	SNV	Uncertain significance	354434	rs780184359	5:82835023-82835023	5:83539204-83539204
12	VCAN	NM_004385.5(VCAN):c.7895C>T (p.Thr2632Ile)	SNV	Uncertain significance	354450	rs767660495	5:82836717-82836717	5:83540898-83540898
13	VCAN	NM_004385.5(VCAN):c.8063C>T (p.Pro2688Leu)	SNV	Uncertain significance	354453	rs755806449	5:82836885-82836885	5:83541066-83541066
14	VCAN	NM_004385.5(VCAN):c.8454G>A (p.Ala2818=)	SNV	Uncertain significance	354459	rs773474075	5:82837276-82837276	5:83541457-83541457
15	VCAN	NM_004385.5(VCAN):c.883_885del	deletion	Uncertain significance	354481	rs886060832	5:82877136-82877138	5:83581317-83581319
16	VCAN	NM_004385.5(VCAN):c.898_905delinsG	indel	Uncertain significance	354482	rs886060833	5:82877151-82877158	5:83581332-83581339
17	VCAN	NM_001164097.1(VCAN):c.-334C>T	SNV	Uncertain significance	354382	rs886060812	5:82767515-82767515	5:83471696-83471696
18	VCAN	NM_004385.5(VCAN):c.-89T>C	SNV	Uncertain significance	354386	rs886060815	5:82767760-82767760	5:83471941-83471941
19	VCAN	NM_004385.5(VCAN):c.297G>C (p.Gly99=)	SNV	Uncertain significance	354389	rs886060817	5:82786143-82786143	5:83490324-83490324
20	VCAN	NM_004385.5(VCAN):c.3204C>T (p.Gly1068=)	SNV	Uncertain significance	354416	rs142805131	5:82817329-82817329	5:83521510-83521510
21	VCAN	NM_004385.5(VCAN):c.3264A>G (p.Pro1088=)	SNV	Uncertain significance	354417	rs767745674	5:82817389-82817389	5:83521570-83521570
22	VCAN	NM_004385.5(VCAN):c.5836C>T (p.His1946Tyr)	SNV	Uncertain significance	354431	rs886060825	5:82834658-82834658	5:83538839-83538839
23	VCAN	NM_004385.5(VCAN):c.*2C>T	SNV	Uncertain significance	354468	rs370984795	5:82876255-82876255	5:83580436-83580436
24	VCAN	NM_004385.5(VCAN):c.*446T>C	SNV	Uncertain significance	354474	rs886060829	5:82876699-82876699	5:83580880-83580880
25	VCAN	NM_004385.5(VCAN):c.881_883del	deletion	Uncertain significance	354480	rs886060831	5:82877134-82877136	5:83581315-83581317
26	VCAN	NM_004385.5(VCAN):c.*905A>G	SNV	Uncertain significance	354484	rs796702160	5:82877158-82877158	5:83581339-83581339
27	VCAN	NM_004385.5(VCAN):c.*909del	deletion	Uncertain significance	354485	rs886060835	5:82877162-82877162	5:83581343-83581343
28	VCAN	NM_004385.5(VCAN):c.*1408G>A	SNV	Uncertain significance	354491	rs886060837	5:82877661-82877661	5:83581842-83581842
29	VCAN	NM_004385.5(VCAN):c.6169A>C (p.Arg2057=)	SNV	Uncertain significance	354433	rs886060826	5:82834991-82834991	5:83539172-83539172
30	VCAN	NM_004385.5(VCAN):c.9481C>G (p.Leu3161Val)	SNV	Uncertain significance	354466	rs765359111	5:82843891-82843891	5:83548072-83548072
31	VCAN	NM_004385.5(VCAN):c.-135G>A	SNV	Uncertain significance	354384	rs886060814	5:82767714-82767714	5:83471895-83471895
32	VCAN	NM_004385.5(VCAN):c.-75A>G	SNV	Uncertain significance	354387	rs886060816	5:82767774-82767774	5:83471955-83471955
33	VCAN	NM_004385.5(VCAN):c.930G>A (p.Val310=)	SNV	Uncertain significance	354394	rs886060818	5:82808103-82808103	5:83512284-83512284
34	VCAN	NM_004385.5(VCAN):c.2937C>T (p.Pro979=)	SNV	Uncertain significance	354409	rs886060819	5:82817062-82817062	5:83521243-83521243
35	VCAN	NM_004385.5(VCAN):c.3067A>G (p.Thr1023Ala)	SNV	Uncertain significance	354411	rs886060820	5:82817192-82817192	5:83521373-83521373
36	VCAN	NM_004385.5(VCAN):c.3956A>G (p.His1319Arg)	SNV	Uncertain significance	354420	rs886060822	5:82818081-82818081	5:83522262-83522262
37	VCAN	NM_004385.5(VCAN):c.4236T>C (p.Asn1412=)	SNV	Uncertain significance	354421	rs752922531	5:82833058-82833058	5:83537239-83537239
38	VCAN	NM_004385.5(VCAN):c.4248C>T (p.Leu1416=)	SNV	Uncertain significance	354422	rs758617685	5:82833070-82833070	5:83537251-83537251
39	VCAN	NM_004385.5(VCAN):c.5482C>T (p.Pro1828Ser)	SNV	Uncertain significance	354427	rs886060823	5:82834304-82834304	5:83538485-83538485
40	VCAN	NM_004385.5(VCAN):c.5801T>G (p.Phe1934Cys)	SNV	Uncertain significance	354430	rs886060824	5:82834623-82834623	5:83538804-83538804
41	VCAN	NM_004385.5(VCAN):c.7035G>A (p.Thr2345=)	SNV	Uncertain significance	354438	rs200757689	5:82835857-82835857	5:83540038-83540038
42	VCAN	NM_004385.5(VCAN):c.8058A>C (p.Leu2686Phe)	SNV	Uncertain significance	354452	rs780717994	5:82836880-82836880	5:83541061-83541061
43	VCAN	NM_004385.5(VCAN):c.8064C>T (p.Pro2688=)	SNV	Uncertain significance	354454	rs886060827	5:82836886-82836886	5:83541067-83541067
44	VCAN	NM_004385.5(VCAN):c.905_912del	deletion	Uncertain significance	354483	rs886060834	5:82877155-82877162	5:83581336-83581343
45	VCAN	NM_004385.5(VCAN):c.*1031T>C	SNV	Uncertain significance	354488	rs548595991	5:82877284-82877284	5:83581465-83581465
46	VCAN	NM_004385.5(VCAN):c.*1091C>T	SNV	Uncertain significance	354489	rs886060836	5:82877344-82877344	5:83581525-83581525
47	VCAN	NM_004385.5(VCAN):c.-259C>T	SNV	Uncertain significance	354383	rs886060813	5:82767590-82767590	5:83471771-83471771
48	VCAN	NM_004385.5(VCAN):c.109T>G (p.Ser37Ala)	SNV	Uncertain significance	354388	rs142740596	5:82785955-82785955	5:83490136-83490136
49	CDH23	NM_022124.6(CDH23):c.3331G>T (p.Val1111Phe)	SNV	Uncertain significance	636161		10:73472532-73472532	10:71712775-71712775
50	CDH23	NM_022124.6(CDH23):c.7241A>T (p.Asp2414Val)	SNV	Uncertain significance	636215		10:73559265-73559265	10:71799508-71799508

Sources

Expression for Vitreoretinopathy

Search GEO for disease gene expression data for Vitreoretinopathy.

Sources

Pathways for Vitreoretinopathy

Pathways related to Vitreoretinopathy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.23	VCAN LRP5 IL6 FZD4 CTNNB1 COL2A1
2	Transcription Androgen Receptor nuclear signaling ²² Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²²	11.74	IL6 FZD4 CTNNB1
3	WNT Signaling ⁶³	11.65	LRP5 FZD4 CTNNB1 CDH23
4	Reelin Pathway (Cajal-Retzius cells) ⁶³	11.61	LRP5 FZD4 CTNNB1
5	G12-G13 in Cellular Signaling ⁶³	11.59	FZD4 CTNNB1 CDH23
6	Spinal Cord Injury ¹	11.51	VCAN IL6 COL2A1
7	Colorectal Cancer Metastasis ⁶³	11.14	LRP5 IL6 FZD4 CTNNB1
8	Wnt signaling network ¹	10.9	LRP5 FZD4
9	Wnt/beta-catenin Signaling Pathway in Leukemia ¹	10.75	LRP5 CTNNB1

Sources

GO Terms for Vitreoretinopathy

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

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

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

(show all 16)

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

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

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

Sources

Sources for Vitreoretinopathy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia