MCID: VTR007
MIFTS: 45

Vitreoretinopathy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Vitreoretinopathy

MalaCards integrated aliases for Vitreoretinopathy:

Name: Vitreoretinopathy 58 29 6 39

Classifications:

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


External Ids:

Orphanet 58 ORPHA98668

Summaries for Vitreoretinopathy

MalaCards based summary : Vitreoretinopathy is related to wagner vitreoretinopathy and exudative vitreoretinopathy 4. An important gene associated with Vitreoretinopathy is TSPAN12 (Tetraspanin 12), and among its related pathways/superpathways are Reelin Pathway (Cajal-Retzius cells) and Spinal Cord Injury. The drugs Isotretinoin and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are pigmentation and vision/eye

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 185)
# Related Disease Score Top Affiliating Genes
1 wagner vitreoretinopathy 32.7 VCAN-AS1 VCAN
2 exudative vitreoretinopathy 4 32.5 TSPAN12 NDP LRP5 FZD4
3 exudative vitreoretinopathy 2, x-linked 32.4 NDP-AS1 NDP LRP5 FZD4
4 exudative vitreoretinopathy 3 32.1 TSPAN12 NDP LRP5 FZD4 EVR3
5 wagner syndrome 32.0 VCAN-AS1 VCAN COL2A1
6 vcan-related vitreoretinopathy 32.0 VCAN-AS1 VCAN
7 exudative vitreoretinopathy 1 31.5 ZNF408 TSPAN12 PRSS23 NDP LRP5 IL6
8 persistent hyperplastic primary vitreous, autosomal recessive 30.4 TSPAN12 NDP-AS1 NDP
9 retinal vascular disease 30.4 ZNF408 TSPAN12 NDP LRP5 IL6 FZD4
10 vitreoretinal degeneration 30.2 VCAN-AS1 VCAN COL2A1
11 vitreous syneresis 30.1 VCAN COL2A1
12 retinal detachment 30.0 ZNF408 TSPAN12 NDP-AS1 NDP LRP5 IL6
13 exudative vitreoretinopathy 30.0 ZNF408 TSPAN12 RCBTB1 PRSS23 NDP-AS1 NDP
14 osteoporosis-pseudoglioma syndrome 30.0 NDP LRP5 FZD4 CTNNB1
15 leukocoria 29.9 ZNF408 TSPAN12 NDP LRP5 FZD4
16 pathologic nystagmus 29.7 NDP-AS1 NDP ABCA4
17 persistent hyperplastic primary vitreous 29.7 ZNF408 TSPAN12 NDP-AS1 NDP LRP5 FZD4
18 stickler syndrome 29.5 VCAN-AS1 VCAN COL2A1
19 chorioretinitis 29.5 IL6 ABCA4
20 norrie disease 29.3 ZNF408 TSPAN12 PRSS23 NDP-AS1 NDP LRP5
21 coats disease 29.3 ZNF408 TSPAN12 RCBTB1 PRSS23 NDP-AS1 NDP
22 congenital toxoplasmosis 29.1 COL2A1 ABCA4
23 osteoporosis 29.1 NDP LRP5 IL6 FZD4 CTNNB1 COL2A1
24 cleft palate, isolated 28.8 LRRC32 CTNNB1 COL2A1 ABCA4
25 retinitis pigmentosa 27.8 ZNF408 RCBTB1 KIF11 IL6 CTNNB1 COL2A1
26 vitreoretinopathy, neovascular inflammatory 11.8
27 exudative vitreoretinopathy 5 11.6
28 exudative vitreoretinopathy 6 11.5
29 exudative vitreoretinopathy 7 11.5
30 vitreoretinopathy with phalangeal epiphyseal dysplasia 11.2
31 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.9
32 syndromic vitreoretinopathy 10.9
33 isolated vitreoretinopathy 10.9
34 microvascular complications of diabetes 5 10.6
35 microvascular complications of diabetes 1 10.5
36 microvascular complications of diabetes 2 10.5
37 macular holes 10.5
38 uveitis 10.4
39 yemenite deaf-blind hypopigmentation syndrome 10.4
40 macular retinal edema 10.4
41 retinal disease 10.4
42 myopia 10.4
43 eye disease 10.3
44 cataract 10.3
45 microcephaly 10.3
46 preretinal fibrosis 10.3
47 vitreous detachment 10.3
48 retinal degeneration 10.2
49 keratopathy 10.2
50 blind hypotensive eye 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 pigmentation MP:0001186 9.35 ABCA4 CTNNB1 FZD4 LRP5 NDP
2 vision/eye MP:0005391 9.23 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 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isotretinoin Approved Phase 4 4759-48-2 5538 5282379
2
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
3
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
4 Immunosuppressive Agents Phase 4
5 Immunologic Factors Phase 4
6 Hormones Phase 4
7 Hormone Antagonists Phase 4
8 glucocorticoids Phase 4
9 Triamcinolone diacetate Phase 4
10 Triamcinolone hexacetonide Phase 4
11 triamcinolone acetonide Phase 4
12 Anti-Inflammatory Agents Phase 4
13 Anesthetics Phase 4
14 Anesthetics, Local Phase 4
15
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
16
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
17
Colchicine Approved Phase 3 64-86-8 6167 2833
18
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
19
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
20
Fluorouracil Approved Phase 3 51-21-8 3385
21
Dalteparin Approved Phase 3 9005-49-6
22
Heparin Approved, Investigational Phase 3 9005-49-6 772 9812414
23
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
24
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
25 Tubulin Modulators Phase 3
26 Antiemetics Phase 3
27 Gastrointestinal Agents Phase 3
28 Antimitotic Agents Phase 3
29 Antineoplastic Agents, Hormonal Phase 3
30 Folic Acid Antagonists Phase 2, Phase 3
31 Antirheumatic Agents Phase 2, Phase 3
32 Vitamin B9 Phase 2, Phase 3
33 Folate Phase 2, Phase 3
34 Vitamin B Complex Phase 2, Phase 3
35 Dermatologic Agents Phase 2, Phase 3
36 Antimetabolites Phase 3
37 Fibrinolytic Agents Phase 3
38 Anticoagulants Phase 3
39 Heparin, Low-Molecular-Weight Phase 3
40 calcium heparin Phase 3
41 Pharmaceutical Solutions Phase 3
42
Bevacizumab Approved, Investigational Phase 2 216974-75-3
43 Antineoplastic Agents, Immunological Phase 2
44 Angiogenesis Inhibitors Phase 2
45
Dipivefrin Approved 52365-63-6 3105
46
Epinephrine Approved, Vet_approved Early Phase 1 51-43-4 5816
47
Racepinephrine Approved Early Phase 1 329-65-7 838
48 Calamus
49 Epinephryl borate Early Phase 1
50 Adrenocorticotropic Hormone Early Phase 1

Interventional clinical trials:

(show all 25)
# 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 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
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 Efficacy of Oral Colchicine in Prevention of Proliferative Vitreoretinopathy in Rhegmatogenous Retinal Detachment Unknown status NCT00370201 Phase 3 colchicine
6 Triamcinolone Acetonide in Silicone-Filled Eyes as Adjunctive Treatment for Proliferative Vitreoretinopathy Completed NCT00373282 Phase 3 Triamcinolone acetonide
7 The Silicone Study Completed NCT00000140 Phase 3 Perfluoropropane;Sulfur Hexafluoride;Silicone Oil
8 Repeated Intra-silicone Oil Injection of Methotrexate for Management of Proliferative Vitreoretinopathy Grade C; A Multi-center Study Recruiting NCT04482543 Phase 2, Phase 3 Methotrexate
9 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%)
10 Prophylactic Intravitreal 5-Fluorouracil and Heparin to Prevent PVR in High-risk Patients With Retinal Detachment. Active, not recruiting NCT02834559 Phase 3 5-fluorouracil and low molecular weight heparin;Placebo
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 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
15 Evaluation Use Optical Coherence Tomography - Rescan During Dissection of Macular Membranes : Pre and Post Operative Aspects Unknown status NCT02748421
16 Outcomes of Extensive Brilliant Blue G-Assisted Internal Limiting Membrane Peeling in Retinal Detachment With Proliferative Vitreoretinopathy Using 3D Visualization System Completed NCT04490876
17 Perfluorocarbone Liquids for Tamponading Lower Retinal Breaks to Achieve Retinal Reattachment in Eyes of Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT04168255
18 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
19 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
20 A Prospective Pilot Study Evaluating the Effect of Intravitreal Injection of Bevacizumab on Recurrent Retinal Detachment Due to Proliferative Vitreoretinopathy Completed NCT01860586 Bevacizumab
21 Familial Exudative Vitreoretinopathy Clinical and Molecular Studies Completed NCT00106756
22 Outcomes of Vitrectomy in Pediatric Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT03208205
23 Adrenocorticotropic Hormone for Intraocular Inflammation in Post-operative Proliferative Vitreoretinopathy Patients Recruiting NCT03727776 Early Phase 1 Adrenocorticotropic Hormone
24 Early Prevention Strategies of Severe Proliferative Vitreoretinopathy Base on Precision Diagnosis of Single Cell Sequencing Not yet recruiting NCT04520789
25 Molecular Taxonomy of Surgically-harvested Ocular Tissues Defined by Single-cell Transcriptomics Not yet recruiting NCT04682054

Search NIH Clinical Center for Vitreoretinopathy

Genetic Tests for Vitreoretinopathy

Genetic tests related to Vitreoretinopathy:

# Genetic test Affiliating Genes
1 Vitreoretinopathy 29

Anatomical Context for Vitreoretinopathy

MalaCards organs/tissues related to Vitreoretinopathy:

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

Publications for Vitreoretinopathy

Articles related to Vitreoretinopathy:

(show top 50) (show all 3246)
# Title Authors PMID Year
1
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 6
30718709 2019
2
Infectious necrotizing scleritis and proliferative vitreoretinopathy after scleral buckling in a patient with atopic dermatitis. 61
33748537 2021
3
Connective tissue growth factor promotes retinal pigment epithelium mesenchymal transition via the PI3K/AKT signaling pathway. 61
33760200 2021
4
PHACOVITRECTOMY FOR PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT REPAIR: A Retrospective Review. 61
32796447 2021
5
A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female. 61
33243052 2021
6
Delayed presentation and increased prevalence of proliferative vitreoretinopathy for primary rhegmatogenous retinal detachments presenting during the COVID-19 pandemic lockdown. 61
32601502 2021
7
Effect of intravitreal conbercept injection on VEGF-A and -B levels in the aqueous and vitreous humor of patients with proliferative diabetic retinopathy. 61
33732305 2021
8
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. 61
33527719 2021
9
Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR). 61
33302760 2021
10
Characterization of mitochondrial calpain-5. 61
33607190 2021
11
Localized versus 360° intraoperative laser retinopexy in cases of rhegmatogenous retinal detachment with mild-to-moderate grade proliferative vitreoretinopathy. 61
32398848 2021
12
Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two case reports. 61
33655927 2021
13
Effects of the secretome of human Wharton's jelly mesenchymal stem cells on the proliferation and apoptosis gene expression of the retinal pigmented epithelium. 61
33662356 2021
14
Surgical management and outcomes of pediatric open globe injuries requiring vitrectomy. 61
33706579 2021
15
Analysis of Predisposing Clinical Features for Worsening Traction After Treatment of Familial Exudative Vitreoretinopathy in Children. 61
32707203 2021
16
Safety assessment of polymeric micelles as an ophthalmic drug delivery system for intravitreal administration of dasatinib. 61
33484922 2021
17
Eupatilin attenuates TGF-β2-induced proliferation and epithelial-mesenchymal transition of retinal pigment epithelial cells. 61
33719768 2021
18
Long noncoding RNA ERLR mediates epithelial-mesenchymal transition of retinal pigment epithelial cells and promotes experimental proliferative vitreoretinopathy. 61
33664479 2021
19
METTL3 attenuates proliferative vitreoretinopathy and epithelial-mesenchymal transition of retinal pigment epithelial cells via wnt/β-catenin pathway. 61
33759344 2021
20
Controlled release of triamcinolone from an episcleral micro film delivery system for open-globe eye injuries and proliferative vitreoretinopathy. 61
33771623 2021
21
Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling. 61
33497368 2021
22
Outcomes of Pars Plana Vitrectomy Alone versus Combined Scleral Buckling plus Pars Plana Vitrectomy for Primary Retinal Detachment. 61
32980532 2021
23
Outcome of pediatric retinal detachment using high-density silicone oil. 61
33165653 2021
24
Time to Unplanned Return to the Operating Room and Associated Risk Factors in Patients with Surgical Retinal Detachment Repair. 61
33626361 2021
25
Visual outcomes after surgery for primary rhegmatogenous retinal detachment in era of microincision vitrectomy: Japan-Retinal Detachment Registry Report IV. 61
32245850 2021
26
Heads-up 3D viewing system in rhegmatogenous retinal detachment with proliferative vitreoretinopathy - A prospective randomized trial. 61
33463583 2021
27
Multimodal Imaging of a Severe Case of Neonatal Acute Retinal Necrosis and Lens Vacuoles Associated with Herpes Simplex Virus Infection. 61
33539717 2021
28
Molecular Targets for Proliferative Vitreoretinopathy. 61
33616467 2021
29
Temporary Keratoprosthesis with Penetrating Keratoplasty in Conjunction with Pars Plana Vitrectomy for Repair of Retinal Detachments in Patients with Anterior and Posterior Segment Pathology. 61
33555819 2021
30
A comparison of using digitally assisted vitreoretinal surgery during repair of rhegmatogenous retinal detachments to the conventional analog microscope: A prospective interventional study. 61
33554299 2021
31
"Iris shelf" technique for management of posterior segment intraocular foreign bodies. 61
33625112 2021
32
Phenotype and Outcomes of Phakic Versus Pseudophakic Primary Rhegmatogenous Retinal Detachments: Cataract or Cataract Surgery Related? 61
32987002 2021
33
Effect of aflibercept on proliferative vitreoretinopathy: Proteomic analysis in an experimental animal model. 61
33417914 2021
34
Results of different strategies to manage complicated retinal re-detachment. 61
32926193 2021
35
Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder. 61
33619830 2021
36
Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy. 61
33588793 2021
37
Contemporary Management of Complex and Non-Complex Rhegmatogenous Retinal Detachment Due to Giant Retinal Tears. 61
33727784 2021
38
[Retinal Detachment Part 2 - Treatment Strategies]. 61
33207381 2021
39
Macular edema after rhegmatogenous retinal detachment repair: risk factors, OCT analysis, and treatment responses. 61
33494835 2021
40
Reply to: Comment on: Localized versus 360° intraoperative laser retinopexy in cases of rhegmatogenous retinal detachment with mild-to-moderate grade proliferative vitreoretinopathy. 61
33414530 2021
41
Molecular pathogenesis of rhegmatogenous retinal detachment. 61
33441730 2021
42
Macular Edema after Successful Pars Plana Vitrectomy for Rhegmatogenous Retinal Detachment: Factors Affecting Edema Development and Considerations for Treatment. 61
31577459 2021
43
Predictive factors for long-term postoperative visual outcome in patients with macula-off rhegmatogenous retinal detachment treated with vitrectomy. 61
33465770 2021
44
Drain fluid cryo-explant technique for treatment of superior bullous rhegmatogenous retinal detachment in young adults. 61
33786414 2021
45
[Proliferative vitreoretinopathy (PVR) minimal: same, same but different. Characteristics and surgical treatment of PVR-associated macular pucker]. 61
33336260 2021
46
[Proliferative vitreoretinopathy (PVR) surgery: Scar Wars : Five steps to successful treatment of PVR detachment]. 61
33346893 2021
47
Micro-incision vitrectomy surgery for primary rhegmatogenous retinal detachments with posterior vitreous detachments in elderly patients: Preoperative characteristics and surgical outcomes. 61
33406140 2021
48
Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes. 61
32507488 2021
49
COMMUNITY-ASSOCIATED METHICILLIN-RESISTANT STAPHYLOCOCCUS AUREUS SUBRETINAL ABSCESS IN A NONBACTEREMIC PATIENT TREATED WITH INTERNAL DRAINAGE AND RETINECTOMY. 61
29746442 2021
50
Progress of Nanotechnology in Diabetic Retinopathy Treatment. 61
33658779 2021

Variations for Vitreoretinopathy

ClinVar genetic disease variations for Vitreoretinopathy:

6 (show top 50) (show all 235)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSPAN12 NM_012338.4(TSPAN12):c.100del (p.Trp34fs) Deletion Pathogenic 523501 rs1554403767 GRCh37: 7:120480130-120480130
GRCh38: 7:120840076-120840076
2 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) SNV Pathogenic 99428 rs61750641 GRCh37: 1:94471055-94471055
GRCh38: 1:94005499-94005499
3 ABCA4 NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) SNV Pathogenic 7892 rs28938473 GRCh37: 1:94473287-94473287
GRCh38: 1:94007731-94007731
4 LRP5 NM_002335.4(LRP5):c.2090A>G (p.Lys697Arg) SNV Likely pathogenic 560373 rs1565083843 GRCh37: 11:68174280-68174280
GRCh38: 11:68406812-68406812
5 LRRC32 NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter) SNV Likely pathogenic 545640 rs369867819 GRCh37: 11:76371007-76371007
GRCh38: 11:76659963-76659963
6 VCAN NM_004385.5(VCAN):c.297G>C (p.Gly99=) SNV Uncertain significance 354389 rs886060817 GRCh37: 5:82786143-82786143
GRCh38: 5:83490324-83490324
7 CDH23 , C10orf105 NM_022124.6(CDH23):c.3331G>T (p.Val1111Phe) SNV Uncertain significance 636161 rs397517321 GRCh37: 10:73472532-73472532
GRCh38: 10:71712775-71712775
8 CDH23 NM_022124.6(CDH23):c.7241A>T (p.Asp2414Val) SNV Uncertain significance 636215 rs1589428738 GRCh37: 10:73559265-73559265
GRCh38: 10:71799508-71799508
9 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
10 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
11 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
12 VCAN NM_004385.5(VCAN):c.*881_*883del Deletion Uncertain significance 354480 rs886060831 GRCh37: 5:82877134-82877136
GRCh38: 5:83581315-83581317
13 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
14 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
15 VCAN NM_004385.5(VCAN):c.930G>A (p.Val310=) SNV Uncertain significance 354394 rs886060818 GRCh37: 5:82808103-82808103
GRCh38: 5:83512284-83512284
16 VCAN NM_004385.5(VCAN):c.3067A>G (p.Thr1023Ala) SNV Uncertain significance 354411 rs886060820 GRCh37: 5:82817192-82817192
GRCh38: 5:83521373-83521373
17 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
18 VCAN NM_004385.5(VCAN):c.3264A>G (p.Pro1088=) SNV Uncertain significance 354417 rs767745674 GRCh37: 5:82817389-82817389
GRCh38: 5:83521570-83521570
19 VCAN NM_004385.5(VCAN):c.*1091C>T SNV Uncertain significance 354489 rs886060836 GRCh37: 5:82877344-82877344
GRCh38: 5:83581525-83581525
20 VCAN NM_001164097.1(VCAN):c.-334C>T SNV Uncertain significance 354382 rs886060812 GRCh37: 5:82767515-82767515
GRCh38: 5:83471696-83471696
21 VCAN NM_004385.5(VCAN):c.*2C>T SNV Uncertain significance 354468 rs370984795 GRCh37: 5:82876255-82876255
GRCh38: 5:83580436-83580436
22 VCAN NM_004385.5(VCAN):c.*883_*885del Deletion Uncertain significance 354481 rs886060832 GRCh37: 5:82877136-82877138
GRCh38: 5:83581317-83581319
23 VCAN NM_004385.5(VCAN):c.-259C>T SNV Uncertain significance 354383 rs886060813 GRCh37: 5:82767590-82767590
GRCh38: 5:83471771-83471771
24 VCAN NM_004385.5(VCAN):c.*446T>C SNV Uncertain significance 354474 rs886060829 GRCh37: 5:82876699-82876699
GRCh38: 5:83580880-83580880
25 VCAN NM_004385.5(VCAN):c.*898_*905delinsG Indel Uncertain significance 354482 rs886060833 GRCh37: 5:82877151-82877158
GRCh38: 5:83581332-83581339
26 VCAN NM_004385.5(VCAN):c.3103T>G (p.Phe1035Val) SNV Uncertain significance 354413 rs886060821 GRCh37: 5:82817228-82817228
GRCh38: 5:83521409-83521409
27 VCAN-AS1 , VCAN NM_004385.5(VCAN):c.5801T>G (p.Phe1934Cys) SNV Uncertain significance 354430 rs886060824 GRCh37: 5:82834623-82834623
GRCh38: 5:83538804-83538804
28 VCAN NM_004385.5(VCAN):c.3956A>G (p.His1319Arg) SNV Uncertain significance 354420 rs886060822 GRCh37: 5:82818081-82818081
GRCh38: 5:83522262-83522262
29 VCAN NM_004385.5(VCAN):c.-75A>G SNV Uncertain significance 354387 rs886060816 GRCh37: 5:82767774-82767774
GRCh38: 5:83471955-83471955
30 VCAN NM_004385.5(VCAN):c.*1671C>T SNV Uncertain significance 354499 rs776524825 GRCh37: 5:82877924-82877924
GRCh38: 5:83582105-83582105
31 VCAN NM_004385.5(VCAN):c.-89T>C SNV Uncertain significance 354386 rs886060815 GRCh37: 5:82767760-82767760
GRCh38: 5:83471941-83471941
32 VCAN NM_004385.5(VCAN):c.*813_*816dup Duplication Uncertain significance 354477 rs140261411 GRCh37: 5:82877065-82877066
GRCh38: 5:83581246-83581247
33 VCAN NM_004385.5(VCAN):c.*160A>G SNV Uncertain significance 354471 rs886060828 GRCh37: 5:82876413-82876413
GRCh38: 5:83580594-83580594
34 VCAN-AS1 , VCAN NM_004385.5(VCAN):c.4236T>C (p.Asn1412=) SNV Uncertain significance 354421 rs752922531 GRCh37: 5:82833058-82833058
GRCh38: 5:83537239-83537239
35 VCAN NM_004385.5(VCAN):c.*1408G>A SNV Uncertain significance 354491 rs886060837 GRCh37: 5:82877661-82877661
GRCh38: 5:83581842-83581842
36 VCAN NM_004385.5(VCAN):c.*909del Deletion Uncertain significance 354485 rs886060835 GRCh37: 5:82877162-82877162
GRCh38: 5:83581343-83581343
37 VCAN NM_004385.5(VCAN):c.2937C>T (p.Pro979=) SNV Uncertain significance 354409 rs886060819 GRCh37: 5:82817062-82817062
GRCh38: 5:83521243-83521243
38 VCAN NM_004385.5(VCAN):c.*905A>G SNV Uncertain significance 354484 rs796702160 GRCh37: 5:82877158-82877158
GRCh38: 5:83581339-83581339
39 VCAN NM_004385.5(VCAN):c.*905_*912del Deletion Uncertain significance 354483 rs886060834 GRCh37: 5:82877155-82877162
GRCh38: 5:83581336-83581343
40 VCAN-AS1 , VCAN NM_004385.5(VCAN):c.6169A>C (p.Arg2057=) SNV Uncertain significance 354433 rs886060826 GRCh37: 5:82834991-82834991
GRCh38: 5:83539172-83539172
41 VCAN NM_004385.5(VCAN):c.-135G>A SNV Uncertain significance 354384 rs886060814 GRCh37: 5:82767714-82767714
GRCh38: 5:83471895-83471895
42 VCAN NM_004385.5(VCAN):c.*707G>A SNV Uncertain significance 354475 rs545081931 GRCh37: 5:82876960-82876960
GRCh38: 5:83581141-83581141
43 VCAN-AS1 , VCAN NM_004385.5(VCAN):c.8272G>T (p.Gly2758Cys) SNV Uncertain significance 354456 rs577603057 GRCh37: 5:82837094-82837094
GRCh38: 5:83541275-83541275
44 VCAN-AS1 , VCAN NM_004385.5(VCAN):c.4292G>A (p.Arg1431His) SNV Uncertain significance 906329 GRCh37: 5:82833114-82833114
GRCh38: 5:83537295-83537295
45 VCAN-AS1 , VCAN NM_004385.5(VCAN):c.7434T>G (p.Thr2478=) SNV Uncertain significance 907515 GRCh37: 5:82836256-82836256
GRCh38: 5:83540437-83540437
46 VCAN-AS1 , VCAN NM_004385.5(VCAN):c.8052C>T (p.Asp2684=) SNV Uncertain significance 907575 GRCh37: 5:82836874-82836874
GRCh38: 5:83541055-83541055
47 VCAN-AS1 , VCAN NM_004385.5(VCAN):c.9403C>A (p.Pro3135Thr) SNV Uncertain significance 907719 GRCh37: 5:82843813-82843813
GRCh38: 5:83547994-83547994
48 VCAN NM_004385.5(VCAN):c.*625G>A SNV Uncertain significance 907764 GRCh37: 5:82876878-82876878
GRCh38: 5:83581059-83581059
49 VCAN-AS1 , VCAN NM_004385.5(VCAN):c.9266-14C>T SNV Uncertain significance 905111 GRCh37: 5:82841342-82841342
GRCh38: 5:83545523-83545523
50 VCAN NM_004385.5(VCAN):c.*93G>A SNV Uncertain significance 906774 GRCh37: 5:82876346-82876346
GRCh38: 5:83580527-83580527

Expression for Vitreoretinopathy

Search GEO for disease gene expression data for Vitreoretinopathy.

Pathways for Vitreoretinopathy

Pathways related to Vitreoretinopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.5 LRP5 FZD4 CTNNB1
2 11.41 VCAN IL6 COL2A1
3 11.14 LRP5 IL6 FZD4 CTNNB1
4 11.11 VCAN IL6 COL2A1
5 10.64 LRP5 CTNNB1

GO Terms for Vitreoretinopathy

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.46 VCAN PRSS23 IL6 COL2A1
2 extracellular matrix GO:0031012 9.26 VCAN NDP LRRC32 COL2A1
3 Wnt signalosome GO:1990909 8.62 LRP5 CTNNB1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.88 NDP LRP5 IL6 FZD4 CTNNB1
2 skeletal system development GO:0001501 9.7 VCAN CTNNB1 COL2A1
3 Wnt signaling pathway GO:0016055 9.65 TSPAN12 NDP LRP5 FZD4 CTNNB1
4 positive regulation of osteoblast differentiation GO:0045669 9.61 LRP5 IL6 CTNNB1
5 canonical Wnt signaling pathway GO:0060070 9.58 LRP5 FZD4 CTNNB1
6 limb morphogenesis GO:0035108 9.54 LRP5 COL2A1
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.51 LRP5 CTNNB1
8 regulation of angiogenesis GO:0045765 9.5 TSPAN12 IL6 CTNNB1
9 tissue homeostasis GO:0001894 9.49 CTNNB1 COL2A1
10 gastrulation with mouth forming second GO:0001702 9.46 LRP5 CTNNB1
11 retinal blood vessel morphogenesis GO:0061304 9.37 LRP5 FZD4
12 positive regulation of DNA-binding transcription factor activity GO:0051091 9.35 NDP LRP5 IL6 FZD4 CTNNB1
13 retina vasculature morphogenesis in camera-type eye GO:0061299 9.33 NDP LRP5 FZD4
14 extracellular matrix-cell signaling GO:0035426 8.8 NDP LRP5 FZD4

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

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

Sources for Vitreoretinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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