EVR1
MCID: EXD008
MIFTS: 71

Exudative Vitreoretinopathy 1 (EVR1)

Categories: Blood diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Exudative Vitreoretinopathy 1

MalaCards integrated aliases for Exudative Vitreoretinopathy 1:

Name: Exudative Vitreoretinopathy 1 57 12 29 6 15 70
Retinopathy of Prematurity 57 12 20 58 29 6 44 15 39 17 70 32
Retrolental Fibroplasia 12 73 20 58
Evr1 57 12 72
Criswick-Schepens Syndrome 57 72
Rop 20 58
Exudative Vitreoretinopathy, Familial, Autosomal Dominant 57
Familial Exudative Vitreoretinopathy, Autosomal Dominant 29
Autosomal Dominant Familial Exudative Vitreoretinopathy 72
Vitreoretinopathy, Exudative, Type 1 39
Vitreoretinopathy, Exudative 1 72
Fevr, Autosomal Dominant 57
Premature Retinopathy 12
Fevr 72

Characteristics:

Orphanet epidemiological data:

58
retinopathy of prematurity
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
onset in infancy or early childhood
slowly progressive disorder
some patients may be asymptomatic
absence of premature birth, low birthweight, and exposure to oxygen
genetic heterogeneity, see evr2 , evr3 , and evr4


HPO:

31
exudative vitreoretinopathy 1:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset slow progression


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111412 DOID:13025
OMIM® 57 133780
OMIM Phenotypic Series 57 PS133780
ICD9CM 34 362.21
MeSH 44 D012178
NCIt 50 C34982
SNOMED-CT 67 155110004
ICD10 32 H35.1
MESH via Orphanet 45 D012178
ICD10 via Orphanet 33 H35.1
UMLS via Orphanet 71 C0035344
Orphanet 58 ORPHA90050
UMLS 70 C0035344 C1851402

Summaries for Exudative Vitreoretinopathy 1

OMIM® : 57 Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). In 31 Chinese pedigrees clinically diagnosed with FEVR, Rao et al. (2017) analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene (148760) was identified in a patient who also exhibited microcephaly (MCLMR; 152950). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered. (133780) (Updated 20-May-2021)

MalaCards based summary : Exudative Vitreoretinopathy 1, also known as retinopathy of prematurity, is related to exudative vitreoretinopathy and exudative vitreoretinopathy 3, and has symptoms including hyperoxia An important gene associated with Exudative Vitreoretinopathy 1 is FZD4 (Frizzled Class Receptor 4), and among its related pathways/superpathways are Signaling by GPCR and Pathways of neurodegeneration - multiple diseases. The drugs Ranibizumab and Phenylephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are premature birth and small for gestational age

UniProtKB/Swiss-Prot : 72 Vitreoretinopathy, exudative 1: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.

Wikipedia : 73 Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a... more...

Related Diseases for Exudative Vitreoretinopathy 1

Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 1 Exudative Vitreoretinopathy 4
Exudative Vitreoretinopathy 3 Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 6 Exudative Vitreoretinopathy 7

Diseases related to Exudative Vitreoretinopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 298)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 32.2 ZNF408 WNT7B WNT7A WNT3A WNT16 WNT11
2 exudative vitreoretinopathy 3 32.1 TSPAN12 NDP LRP5 FZD4
3 exudative vitreoretinopathy 2, x-linked 32.0 NDP LRP5 FZD4
4 exudative vitreoretinopathy 4 32.0 WNT16 TSPAN12 NDP MYOC LRP5 FZD4
5 macular degeneration, age-related, 1 31.0 VLDLR VEGFC VEGFA MYOC CD55
6 coats disease 30.9 ZNF408 VEGFA TSPAN12 PRSS23 NDP LRP5
7 persistent hyperplastic primary vitreous 30.9 ZNF408 WNT7B VEGFA TSPAN12 NDP LRP5
8 retinal detachment 30.9 ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
9 vitreoretinopathy 30.8 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
10 leukocoria 30.8 ZNF408 TSPAN12 NDP LRP5 FZD4
11 microphthalmia 30.6 WNT7B WNT3A NDP LRP5 CTNNB1
12 kuhnt-junius degeneration 30.6 VLDLR VEGFC VEGFA
13 persistent hyperplastic primary vitreous, autosomal recessive 30.5 TSPAN12 NDP
14 retinal vascular disease 30.4 ZNF408 VEGFA TSPAN12 OCLN NDP LRP5
15 fundus dystrophy 30.4 ZNF408 VEGFA TSPAN12 PRSS23 MYOC LRP5
16 keratitis, hereditary 30.4 VEGFC VEGFA MYOC
17 osteoporosis 30.3 WNT3A WNT16 VEGFA NDP LRP5 FZD4
18 norrie disease 30.2 ZNF408 WNT7B WNT7A WNT3A WNT16 WNT11
19 yemenite deaf-blind hypopigmentation syndrome 11.2
20 microcephaly and chorioretinopathy, autosomal recessive, 1 11.1
21 aqueous misdirection 11.1
22 myopia 11.0
23 refractive error 11.0
24 strabismus 11.0
25 mechanical strabismus 11.0
26 exudative vitreoretinopathy 5 10.9
27 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.9
28 bronchopulmonary dysplasia 10.9
29 enterocolitis 10.8
30 patent ductus arteriosus 1 10.8
31 perinatal necrotizing enterocolitis 10.8
32 astigmatism 10.8
33 cataract 10.7
34 suppression amblyopia 10.7
35 amblyopia 10.7
36 microvascular complications of diabetes 5 10.7
37 anisometropia 10.7
38 vascular disease 10.6
39 pre-eclampsia 10.6
40 retinal disease 10.6
41 intraocular pressure quantitative trait locus 10.6
42 cerebral palsy 10.6
43 pathologic nystagmus 10.6
44 endophthalmitis 10.6
45 hyperglycemia 10.5
46 eye disease 10.5
47 lung disease 10.5
48 insulin-like growth factor i 10.5
49 eclampsia 10.5
50 farsightedness 10.5

Graphical network of the top 20 diseases related to Exudative Vitreoretinopathy 1:



Diseases related to Exudative Vitreoretinopathy 1

Symptoms & Phenotypes for Exudative Vitreoretinopathy 1

Human phenotypes related to Exudative Vitreoretinopathy 1:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
2 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001518
3 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
4 vitreous hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0007902
5 retinal arteriolar tortuosity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001136
6 abnormal macular morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001103
7 tractional retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0007917
8 abnormal retinal vascular morphology 58 Very frequent (99-80%)
9 retinal detachment 31 HP:0000541
10 recurrent fractures 31 HP:0002757
11 reduced visual acuity 31 HP:0007663
12 retinal exudate 31 HP:0001147
13 subcapsular cataract 31 HP:0000523
14 exudative vitreoretinopathy 31 HP:0030490
15 retinal neovascularization 31 HP:0030666
16 peripheral retinal avascularization 31 HP:0007685
17 posterior vitreous detachment 31 HP:0001489
18 falciform retinal fold 31 HP:0001493

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
blindness
vitreous hemorrhage
retinal neovascularization
peripheral retinal avascularization
decreased visual acuity
more
Skeletal:
low bone density
increased fracture rate

Clinical features from OMIM®:

133780 (Updated 20-May-2021)

UMLS symptoms related to Exudative Vitreoretinopathy 1:


hyperoxia

GenomeRNAi Phenotypes related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.5 VLDLR
2 Decreased viability GR00249-S 9.5 NDP NRP2 VEGFA VEGFC WNT16 WNT7B
3 Decreased viability GR00381-A-1 9.5 MYOC
4 Decreased viability GR00386-A-1 9.5 NDP OCLN WNT7B
5 Decreased viability GR00402-S-2 9.5 NDP TSPAN12 VLDLR WNT7B

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 CTNNB1 DLL4 FZD4 LRP5 NDP NRP2
2 behavior/neurological MP:0005386 10.27 CD55 CTNNB1 FZD4 LRP5 NDP NRP2
3 mortality/aging MP:0010768 10.22 CD55 CTNNB1 DLL4 FZD4 LRP5 NRP2
4 embryo MP:0005380 10.11 CTNNB1 DLL4 FZD4 LRP5 NRP2 VEGFA
5 nervous system MP:0003631 10.06 CTNNB1 FZD4 LRP5 NDP NRP2 OCLN
6 muscle MP:0005369 9.97 CD55 CTNNB1 DLL4 FZD4 NRP2 OCLN
7 hearing/vestibular/ear MP:0005377 9.91 CTNNB1 FZD4 NDP TSPAN12 WNT3A WNT7A
8 no phenotypic analysis MP:0003012 9.86 CTNNB1 FZD4 MYOC NDP NRP2 VEGFA
9 reproductive system MP:0005389 9.65 CTNNB1 FZD4 NDP NRP2 OCLN VEGFA
10 pigmentation MP:0001186 9.55 CTNNB1 FZD4 LRP5 NDP VLDLR
11 vision/eye MP:0005391 9.4 CTNNB1 DLL4 FZD4 LRP5 MYOC NDP

Drugs & Therapeutics for Exudative Vitreoretinopathy 1

Drugs for Exudative Vitreoretinopathy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 142)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2
Phenylephrine Approved Phase 4 59-42-7 6041
3
Ephedrine Approved Phase 4 299-42-3 9294
4
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
5
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
6
Pseudoephedrine Approved Phase 4 90-82-4 7028
7
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
8
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
9
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Zinc Approved, Investigational Phase 4 7440-66-6 32051
12
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
13
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
14
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
15 Mitogens Phase 4
16 Angiogenesis Inhibitors Phase 4
17 Endothelial Growth Factors Phase 4
18 Retinol palmitate Phase 4
19 retinol Phase 4
20 Respiratory System Agents Phase 4
21 Adrenergic alpha-Agonists Phase 4
22 Cardiotonic Agents Phase 4
23 Adrenergic Agonists Phase 4
24 Nasal Decongestants Phase 4
25 Cholinergic Agents Phase 4
26 Cholinergic Antagonists Phase 4
27 Vasoconstrictor Agents Phase 4
28 Protective Agents Phase 4
29 Muscarinic Antagonists Phase 4
30 Sympathomimetics Phase 4
31 Antineoplastic Agents, Immunological Phase 4
32 Antioxidants Phase 4
33 Anesthetics, General Phase 4
34 Anesthetics, Inhalation Phase 4
35 Hypnotics and Sedatives Phase 4
36 Neuromuscular Blocking Agents Phase 4
37 Anesthetics, Intravenous Phase 4
38 Excitatory Amino Acid Antagonists Phase 4
39 Anesthetics, Dissociative Phase 4
40 Platelet Aggregation Inhibitors Phase 4
41 Dermatologic Agents Phase 4
42 Antirheumatic Agents Phase 4
43 Analgesics Phase 4
44 Anti-Inflammatory Agents, Non-Steroidal Phase 4
45 Anti-Inflammatory Agents Phase 4
46 Cyclooxygenase Inhibitors Phase 4
47 Analgesics, Non-Narcotic Phase 4
48 Ketorolac Tromethamine Phase 4
49
Isoproterenol Approved, Investigational Phase 2, Phase 3 7683-59-2 3779
50
Atropine Approved, Vet_approved Phase 2, Phase 3 5908-99-6, 51-55-8 174174

Interventional clinical trials:

(show top 50) (show all 117)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Mydriatic Microdrops Compared With Standard Drops for Retinopathy of Prematurity (ROP) Screening: a Pilot Randomized Clinical Trial Completed NCT04623684 Phase 4 Microdrop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 6-7 μL)];Standard drop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 28-34 μL)]
2 Sucrose and Non Nutritive Suck as Analgesia for Babies Undergoing Retinopathy of Prematurity Screening; a Randomised Placebo Controlled Trial Completed NCT00921544 Phase 4
3 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage IV and V Completed NCT00563121 Phase 4
4 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage V. Completed NCT00500396 Phase 4
5 Does Additional Vitamin A Supplementation Improve Retinal Function and Conjunctival Health in Very Low Birthweight Infants? Completed NCT00417404 Phase 4 Aquasol A;aquasol A
6 DECREASING THE NEED FOR MECHANICAL VENTILATION AFTER RETINOPATHY OF PREMATURITY SURGERY: Sedation vs General Anesthesia Completed NCT01955135 Phase 4 Ketamine;Sevoflurane;propofol
7 Comparison of the Vascular Endothelial Growth Factor Serum Concentrations After Intravitreal Use of Bevacizumab or Ranibizumab as a Treatment for Type 1 Retinopathy of Prematurity Completed NCT03148132 Phase 4 Bevacizumab Injection;Ranibizumab Ophthalmic
8 Oral Zinc Supplementation Improving Growth and Reducing Morbidity on Very Low Birth Weight Infant Not yet recruiting NCT04050488 Phase 4 Zinc Sulfate;Placebos
9 Topical Application of ACULAR a Randomized, Vehicle Controlled Clinical Trial: Efficiency in Inhibiting Proliferative Retinopathy of Prematurity Terminated NCT00634972 Phase 4 ACULAR;REFRESH TEARS;placebo
10 Effect of Cysteine Supplementation on Glutathione Production in Critically Ill Neonates Unknown status NCT00254176 Phase 2, Phase 3
11 The Early Treatment for Retinopathy of Prematurity Study (ETROP) Unknown status NCT00027222 Phase 2, Phase 3
12 Antiangiogenic Therapy With Bevacizumab in Retinopathy of Prematurity. Structural Outcome Unknown status NCT00346814 Phase 2, Phase 3 intravitreal injection
13 RAINBOW Study: a Randomized, Controlled Study Evaluating the Efficacy and Safety of RAnibizumab Compared With Laser Therapy for the Treatment of INfants BOrn Prematurely With Retinopathy of Prematurity Completed NCT02375971 Phase 3 Ranibizumab
14 A Randomized Controlled Trial of Two Hemoglobin Thresholds for Transfusion in Newborns <1000g Birth Weight Completed NCT00182390 Phase 3
15 A Randomised Intervention Single Center Study to Determine the Role of Fatty Acids in Serum in Preventing Retinopathy of Prematurity Completed NCT02760472 Phase 3 SMOFlipid;Clinoleic
16 Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity Completed NCT01203436 Phase 2, Phase 3
17 A Randomized Controlled Trial on the Effectiveness of Inhaled Nitrous Oxide for Pain Relief During ROP Screening Exam in the Pre-term Infant Completed NCT00623220 Phase 3
18 Safety and Efficacy of Treatment With Propranolol in Newborns With Retinopathy of Prematurity: a Pilot Study Completed NCT01079715 Phase 2, Phase 3 Propranolol
19 Open-label, Randomized, Two-Arm, Controlled Study to Assess the Efficacy, Safety, and Tolerability of Intravitreal (IVT) Aflibercept Compared to Laser Photocoagulation in Patients With Retinopathy of Prematurity (ROP) Completed NCT04004208 Phase 3 Eylea (Aflibercept, BAY86-5321)
20 The Effects of Light Reduction on Retinopathy of Prematurity (Light-ROP) Completed NCT00000156 Phase 3
21 Surfactant Positive Airway Pressure and Pulse Oximetry Trial (SUPPORT) in Extremely Low Birth Weight Infants Completed NCT00233324 Phase 3 Surfactant;Supplemental oxygen with target saturation of 85 to 89%;Supplemental oxygen with target saturation of 91 to 95%
22 Fasudil Eye Drop in Retinopathy Of Prematurity, Retinal Vascularization Induction and Disease Progression Inhibition, a Randomized Clinical Trial Recruiting NCT04191954 Phase 2, Phase 3 Fasudil eye drops (concentration 0.5 percent);receive artificial tears drop
23 Randomized, Controlled, Multi-Center Study to Assess the Efficacy, Safety, and Tolerability of Intravitreal Aflibercept Compared to Laser Photocoagulation in Patients With Retinopathy of Prematurity Recruiting NCT04101721 Phase 3 aflibercept
24 An Extension Study to Evaluate the Long-term Outcomes of Subjects Who Received Treatment for Retinopathy of Prematurity in Study 20090 Recruiting NCT04015180 Phase 3 Eylea (Aflibercept, BAY86-5321)
25 RAINBOW Extension Study: an Extension Study to Evaluate the Long Term Efficacy and Safety of RAnibizumab Compared With Laser Therapy for the Treatment of INfants BOrn Prematurely With Retinopathy of Prematurity Active, not recruiting NCT02640664 Phase 3 Ranibizumab;Ranibizumab
26 A Randomized Trial of Low-Dose Bevacizumab Versus Laser for Type 1 Retinopathy of Prematurity Not yet recruiting NCT04634604 Phase 3 Bevacizumab
27 INS-3: A Phase 3, Randomized, Double-Masked, Placebo-Controlled Study of the Efficacy and Safety of Myo-Inositol 5% Injection to Increase Survival Without Severe Retinopathy of Prematurity (Reduce-ROP) in Extremely Premature Infants Terminated NCT01954082 Phase 3 myo-Inositol 5% Injection;Placebo
28 Intravitreal Bevacizumab (AvastinTM) Injections Versus Conventional Laser Surgery for Vision-threatening Retinopathy of Prematurity: a Prospective, Randomized, Non-blinded, Controlled, Multi-center, Clinical Trial Unknown status NCT00622726 Phase 2 Bevacizumab
29 Early Treatment With Recombinant Erythropoietin for Neuroprotection in Very Preterm Infants: Comparison of High and Low Dose Unknown status NCT00910234 Phase 1, Phase 2 recombinant human erythropoietin (rhEpo);recombinant human erythropoietin (rhEpo);Normal saline
30 Safety and Efficacy of Propranolol Treatment in Newborns With Retinopathy of Prematurity:a Prospective Cohort Study Unknown status NCT03038295 Phase 2 Propranolol;placebo
31 Determination of the rhIGF-1/rhIGFBP-3 Dose, Administered as a Continuous Infusion, Required to Establish and Maintain Longitudinal Serum IGF-1 Levels Within Physiological Levels in Premature Infants, to Prevent Retinopathy of Prematurity A Phase 2, Randomized Controlled, Assessor-blind, Dose Confirming, Pharmacokinetic, Safety and Efficacy, Multicenter Study Completed NCT01096784 Phase 2 rhIGF-I/rhIGFBP-3
32 Oral Propranolol Versus Placebo for Early Stages of Retinopathy of Prematurity (ROP): A Pilot, Randomized and Prospective Study. Completed NCT01238471 Phase 1, Phase 2 propranolol;sucrose 5%
33 Omega-3 LCPUFA Supplementation in Very Low Birth Weight Infants for The Prevention Retinopathy of Prematurity: Proposal for a Prospective Randomized Controlled Masked Clinical Trial With Lipidomic and Transcriptomic Analyses Completed NCT02486042 Phase 2 Omegaven;Standard Nutrition
34 Safety and Efficacy of Propranolol 0.2% Eye Drops in Treating Newborn With Retinopathy of Premature: A Pilot Study (DROP-ROP-0.2%) Completed NCT02504944 Phase 2 Propranolol 0.2% eye drops
35 Phase II Randomized, Double-Masked, Placebo-Controlled, Safety, Pharmacokinetic, and Dose-Ranging Study of Multiple Doses of Inositol in Premature Infants Completed NCT01030575 Phase 2 Inositol lower volume;Inositol mid-level volume;Inositol high volume;Placebo low volume
36 Synergistic Pharmacologic Intervention for Prevention of ROP (SPIPROP STUDY) Completed NCT02344225 Phase 2 Caffeine citrate;Ibuprofen;Ketorolac
37 Safety and Efficacy of Propranolol Eye Drops in Newborns With Retinopathy of Premature (DROP-PROP) Completed NCT02014454 Phase 2 Propranolol eye drops
38 Single-Dose Intravenous Inositol Pharmacokinetics in Preterm Infants Completed NCT00349726 Phase 2 Inositol lower volume;Inositol higher volume;Placebo lower volume;Placebo higher volume
39 Multicenter Randomized Double Masked Parallel Design Exploratory Study to Assess Safety and Efficacy of Two Different Doses of Intravitreal Anti-VEGF Treatment With Ranibizumab (0.12 mg vs. 0.20 mg) in Infants With Retinopathy of Prematurity (ROP) Completed NCT02134457 Phase 2
40 PhaseI/II Investigator-Initiated Trial to Investigate Safety and Efficacy of Ripasudil in Patients With Retinopathy of Prematurity Recruiting NCT04621136 Phase 1, Phase 2 Ripasudil ophthalmic solution 0.4%
41 A Phase 2b, Multicenter, Randomized, Open-label, Controlled, 3-Arm Study to Evaluate the Clinical Efficacy and Safety of SHP607 in Preventing Chronic Lung Disease Through 12 Months Corrected Age Compared to Standard Neonatal Care in Extremely Premature Infants Recruiting NCT03253263 Phase 2 SHP607
42 Bevacizumab Treatment For Posterior Zone I Retinopathy of Prematurity Not yet recruiting NCT04634578 Phase 2 Bevacizumab
43 Pan-VEGF Blockade for the Treatment of Retinopathy of Prematurity (BLOCK-ROP) Withdrawn NCT01232777 Phase 2 Bevacizumab
44 Oral Propranolol for Prevention of Threshold Retinopathy of Prematurity Withdrawn NCT03083431 Phase 2 Propranolol;Placebo
45 Safety and Effectiveness Phase 1 Study of Autologous Umbilical Cord Blood Transfusion for the Prevention and Treatment of Prematurity Complications In Preterm Neonates Unknown status NCT02050971 Phase 1
46 Topical Betaxolol for the Prevention of Retinopathy of Prematurity Completed NCT01660620 Phase 1 Betaxolol;topical betaxolol
47 Phase 1 Trial of Bevacizumab Treatment for Severe Retinopathy of Prematurity Active, not recruiting NCT02390531 Phase 1 Bevacizumab
48 Phase 1 Trial of Pan-VEGF Blockade for the Treatment of Retinopathy of Prematurity Terminated NCT00702819 Phase 1 Bevacizumab
49 Urine VEGF Levels in Very Low Birth Weight (VLBW) Infants Unknown status NCT00799721
50 Study of no Inferiority Between Two Doses (0.500mg and 0.625mg) of Bevacizumab Intravitreal in the Treatment of Retinopathy of Prematurity Type 1 Unknown status NCT02090322

Search NIH Clinical Center for Exudative Vitreoretinopathy 1

Cochrane evidence based reviews: retinopathy of prematurity

Genetic Tests for Exudative Vitreoretinopathy 1

Genetic tests related to Exudative Vitreoretinopathy 1:

# Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 1 29 FZD4 LRP5
2 Familial Exudative Vitreoretinopathy, Autosomal Dominant 29
3 Retinopathy of Prematurity 29

Anatomical Context for Exudative Vitreoretinopathy 1

MalaCards organs/tissues related to Exudative Vitreoretinopathy 1:

40
Eye, Retina, Endothelial, Lung, Brain, Bone, Skin

Publications for Exudative Vitreoretinopathy 1

Articles related to Exudative Vitreoretinopathy 1:

(show top 50) (show all 6751)
# Title Authors PMID Year
1
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 61 6 57
15733276 2005
2
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease. 6 57
21097938 2011
3
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 57 6
15981244 2005
4
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 57 6
15488808 2004
5
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 57 6
14507768 2003
6
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 6 57
12172548 2002
7
The rod photoreceptors in retinopathy of prematurity: an electroretinographic study. 57 61
11296015 2001
8
Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. 57
28494495 2017
9
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. 57
25124931 2014
10
Clinical presentation of familial exudative vitreoretinopathy. 57
21868098 2011
11
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 57
20159112 2010
12
Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. 57
8020986 1994
13
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. 57
1415220 1992
14
The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. 57
1598965 1992
15
Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. 57
1985487 1991
16
Retinal vascular pattern in familial exudative vitreoretinopathy. 57
6084219 1984
17
Criswick-Schepens syndrome (familial exudative vitreoretinopathy). Study of a Colombian kindred. 57
6487118 1984
18
Autosomal dominant exudative vitreoretinopathy. 57
6626002 1983
19
Falciform retinal fold as sign of familial exudative vitreoretinopathy. 57
6855020 1983
20
Retinal involvement in familial exudative vitreoretinopathy. 57
7133626 1982
21
Pathologic findings in familial exudative vitreoretinopathy. 57
7305712 1981
22
Congenital retinal fold as a sign of dominant exudative vitreoretinopathy. 57
6911005 1981
23
Autosomal dominant exudative vitreoretinopathy. 57
7362811 1980
24
Familial exudative vitreoretinopathy. 57
6906151 1980
25
Familial exudative vitreoretinopathy. 57
434067 1979
26
Flourescein angiography in mild stages of dominant exudative vitreoretinopathy. 57
548734 1979
27
Dominantly inherited peripheral retinal neovascularization. 57
687201 1978
28
Fluorescein angiographic findings in familial exudative vitreoretinopathy. 57
947162 1976
29
Familial exudative vitreoretinopathy. An expanded view. 57
5571414 1971
30
Familial exudative vitreoretinopathy. 57
5394449 1969
31
CONGENITAL RETINAL FOLD. 57
18169329 1935
32
Effects of long non-coding RNA myocardial infarction-associated transcript on retinal neovascularization in a newborn mouse model of oxygen-induced retinopathy. 61
33510096 2021
33
Morbidity and cost burden of prenatal myelomeningocele repair. 61
31345076 2021
34
G-protein-coupled estrogen receptor protects retinal ganglion cells via inhibiting endoplasmic reticulum stress under hyperoxia. 61
33151568 2021
35
Risk factors in early life for developmental coordination disorder: a scoping review. 61
33345317 2021
36
Reference values for N-terminal Pro-brain natriuretic peptide in premature infants during their first weeks of life. 61
33141298 2021
37
Imaging the pediatric retina: An overview. 61
33727440 2021
38
Automated control of fraction of inspired oxygen: is it time for widespread adoption? 61
33394746 2021
39
Acute and chronic effects of intravitreal bevacizumab on lung biomarkers of angiogenesis in the rat exposed to neonatal intermittent hypoxia. 61
33377400 2021
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WHAT IS THE INCIDENCE OF RETINOPATHY OF PREMATURITY (ROP) IN 'BIG' BABIES?: RESULTS OF A RETROSPECTIVE MULTICENTER STUDY. 61
32657188 2021
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Effect of breast milk and sucrose on pain and perfusion index during examination for retinopathy of prematurity. 61
31203685 2021
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OUTCOMES OF NONCONFLUENT DIODE LASER PANRETINAL PHOTOCOAGULATION FOR AGGRESSIVE POSTERIOR RETINOPATHY OF PREMATURITY AFTER INTRAVITREAL BEVACIZUMAB. 61
32796444 2021
43
Impact of Higher Oxygen Saturation Levels on Postnatal Weight Gain to Predict Retinopathy of Prematurity. 61
33797784 2021
44
Retinal structural changes in preterm children without retinopathy of prematurity. 61
33146830 2021
45
PREOPERATIVE ANATOMICAL FEATURES ASSOCIATED WITH IMPROVED SURGICAL OUTCOMES FOR STAGE 5 RETINOPATHY OF PREMATURITY. 61
32932381 2021
46
Analysis of Brain Injury Biomarker Neurofilament Light and Neurodevelopmental Outcomes and Retinopathy of Prematurity Among Preterm Infants. 61
33797551 2021
47
Preterm Infant Stress During Handheld Optical Coherence Tomography vs Binocular Indirect Ophthalmoscopy Examination for Retinopathy of Prematurity. 61
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48
GLYCEMIC VARIABILITY IS ASSOCIATED WITH TREATMENT REQUIRING RETINOPATHY OF PREMATURITY: A Case-Control Study. 61
32804832 2021
49
Aggressive posterior retinopathy of prematurity: a review on current understanding. 61
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50
Myopia in school-aged children with preterm birth: the roles of time spent outdoors and serum vitamin D. 61
32561534 2021

Variations for Exudative Vitreoretinopathy 1

ClinVar genetic disease variations for Exudative Vitreoretinopathy 1:

6 (show top 50) (show all 144)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FZD4 , PRSS23 NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del) Deletion Pathogenic 5484 rs80358301 GRCh37: 11:86662314-86662319
GRCh38: 11:86951272-86951277
2 FZD4 , PRSS23 NM_012193.4(FZD4):c.1499_1500CT[1] (p.Leu501fs) Microsatellite Pathogenic 5485 rs80358303 GRCh37: 11:86662296-86662297
GRCh38: 11:86951254-86951255
3 FZD4 , PRSS23 NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln) SNV Pathogenic 5486 rs80358294 GRCh37: 11:86662548-86662548
GRCh38: 11:86951506-86951506
4 FZD4 , PRSS23 NM_012193.4(FZD4):c.1024A>G (p.Met342Val) SNV Pathogenic 5487 rs80358293 GRCh37: 11:86662774-86662774
GRCh38: 11:86951732-86951732
5 FZD4 , PRSS23 NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys) SNV Pathogenic 5488 rs80358292 GRCh37: 11:86662793-86662793
GRCh38: 11:86951751-86951751
6 FZD4 , PRSS23 NM_012193.4(FZD4):c.766A>G (p.Ile256Val) SNV Pathogenic 5489 rs104894223 GRCh37: 11:86663032-86663032
GRCh38: 11:86951990-86951990
7 CTNNB1 NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) Insertion Pathogenic 225170 rs1057519379 GRCh37: 3:41275268-41275269
GRCh38: 3:41233777-41233778
8 CTNNB1 NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys) SNV Pathogenic 225171 rs748653573 GRCh37: 3:41279558-41279558
GRCh38: 3:41238067-41238067
9 CTNNB1 NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter) Duplication Pathogenic 225172 rs1057519380 GRCh37: 3:41280628-41280629
GRCh38: 3:41239137-41239138
10 overlap with 15 genes Deletion Pathogenic 560087 GRCh37: 11:83315294-86755595
GRCh38:
11 FZD4 , PRSS23 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic 224624 rs80358284 GRCh37: 11:86663485-86663485
GRCh38: 11:86952443-86952443
12 LRP5 NM_002335.4(LRP5):c.1412+1G>A SNV Pathogenic 929300 GRCh37: 11:68154181-68154181
GRCh38: 11:68386713-68386713
13 FZD4 , PRSS23 NM_012193.4(FZD4):c.766A>G (p.Ile256Val) SNV Pathogenic 5489 rs104894223 GRCh37: 11:86663032-86663032
GRCh38: 11:86951990-86951990
14 LRP5 NM_002335.4(LRP5):c.2585A>T (p.Asp862Val) SNV Likely pathogenic 929301 GRCh37: 11:68181238-68181238
GRCh38: 11:68413770-68413770
15 FZD4 , PRSS23 NM_012193.4(FZD4):c.964A>T (p.Ile322Phe) SNV Likely pathogenic 929302 GRCh37: 11:86662834-86662834
GRCh38: 11:86951792-86951792
16 FZD4 , PRSS23 NM_012193.4(FZD4):c.615del (p.Tyr206fs) Deletion Likely pathogenic 929303 GRCh37: 11:86663183-86663183
GRCh38: 11:86952141-86952141
17 FZD4 , PRSS23 NM_012193.4(FZD4):c.461A>G (p.His154Arg) SNV Uncertain significance 801000 rs1334686841 GRCh37: 11:86663337-86663337
GRCh38: 11:86952295-86952295
18 FZD4 NM_012193.4(FZD4):c.18A>C (p.Ala6=) SNV Uncertain significance 882394 GRCh37: 11:86666110-86666110
GRCh38: 11:86955068-86955068
19 FZD4 NM_012193.4(FZD4):c.-250G>A SNV Uncertain significance 882395 GRCh37: 11:86666377-86666377
GRCh38: 11:86955335-86955335
20 FZD4 , PRSS23 NM_012193.4(FZD4):c.*4386T>G SNV Uncertain significance 883121 GRCh37: 11:86657798-86657798
GRCh38: 11:86946756-86946756
21 FZD4 , PRSS23 NM_012193.4(FZD4):c.1468A>T (p.Thr490Ser) SNV Uncertain significance 988079 GRCh37: 11:86662330-86662330
GRCh38: 11:86951288-86951288
22 FZD4 , PRSS23 NM_012193.4(FZD4):c.*4756G>C SNV Uncertain significance 881943 GRCh37: 11:86657428-86657428
GRCh38: 11:86946386-86946386
23 FZD4 , PRSS23 NM_012193.4(FZD4):c.*3433T>G SNV Uncertain significance 882026 GRCh37: 11:86658751-86658751
GRCh38: 11:86947709-86947709
24 FZD4 , PRSS23 NM_012193.4(FZD4):c.*3052C>T SNV Uncertain significance 882027 GRCh37: 11:86659132-86659132
GRCh38: 11:86948090-86948090
25 FZD4 , PRSS23 NM_012193.4(FZD4):c.*1459A>G SNV Uncertain significance 882094 GRCh37: 11:86660725-86660725
GRCh38: 11:86949683-86949683
26 FZD4 , PRSS23 NM_012193.4(FZD4):c.*1397A>G SNV Uncertain significance 882095 GRCh37: 11:86660787-86660787
GRCh38: 11:86949745-86949745
27 FZD4 , PRSS23 NM_012193.4(FZD4):c.*1252C>T SNV Uncertain significance 882096 GRCh37: 11:86660932-86660932
GRCh38: 11:86949890-86949890
28 FZD4 , PRSS23 NM_012193.4(FZD4):c.*3197C>G SNV Uncertain significance 306362 rs752566671 GRCh37: 11:86658987-86658987
GRCh38: 11:86947945-86947945
29 FZD4 NM_012193.4(FZD4):c.84G>C (p.Leu28=) SNV Uncertain significance 882148 GRCh37: 11:86666044-86666044
GRCh38: 11:86955002-86955002
30 FZD4 , PRSS23 NM_012193.4(FZD4):c.*798G>C SNV Uncertain significance 883237 GRCh37: 11:86661386-86661386
GRCh38: 11:86950344-86950344
31 FZD4 , PRSS23 NM_012193.4(FZD4):c.*701C>A SNV Uncertain significance 883238 GRCh37: 11:86661483-86661483
GRCh38: 11:86950441-86950441
32 FZD4 , PRSS23 NM_012193.4(FZD4):c.*3974C>T SNV Uncertain significance 883898 GRCh37: 11:86658210-86658210
GRCh38: 11:86947168-86947168
33 FZD4 , PRSS23 NM_012193.4(FZD4):c.*3953G>C SNV Uncertain significance 883899 GRCh37: 11:86658231-86658231
GRCh38: 11:86947189-86947189
34 FZD4 , PRSS23 NM_012193.4(FZD4):c.*2182G>A SNV Uncertain significance 883974 GRCh37: 11:86660002-86660002
GRCh38: 11:86948960-86948960
35 FZD4 , PRSS23 NM_012193.4(FZD4):c.*2091A>G SNV Uncertain significance 883975 GRCh37: 11:86660093-86660093
GRCh38: 11:86949051-86949051
36 FZD4 , PRSS23 NM_012193.4(FZD4):c.*522C>G SNV Uncertain significance 884040 GRCh37: 11:86661662-86661662
GRCh38: 11:86950620-86950620
37 FZD4 , PRSS23 NM_012193.4(FZD4):c.*461G>A SNV Uncertain significance 884041 GRCh37: 11:86661723-86661723
GRCh38: 11:86950681-86950681
38 FZD4 , PRSS23 NM_012193.4(FZD4):c.*312C>T SNV Uncertain significance 884042 GRCh37: 11:86661872-86661872
GRCh38: 11:86950830-86950830
39 FZD4 , PRSS23 NM_012193.4(FZD4):c.*173T>G SNV Uncertain significance 884043 GRCh37: 11:86662011-86662011
GRCh38: 11:86950969-86950969
40 FZD4 , PRSS23 NM_012193.4(FZD4):c.718A>G (p.Thr240Ala) SNV Uncertain significance 930469 GRCh37: 11:86663080-86663080
GRCh38: 11:86952038-86952038
41 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) SNV Uncertain significance 520692 rs201320326 GRCh37: 11:68153967-68153967
GRCh38: 11:68386499-68386499
42 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain significance 183255 rs61889560 GRCh37: 11:68191036-68191036
GRCh38: 11:68423568-68423568
43 FZD4 , PRSS23 NM_012193.4(FZD4):c.*5256G>A SNV Uncertain significance 880530 GRCh37: 11:86656928-86656928
GRCh38: 11:86945886-86945886
44 FZD4 , PRSS23 NM_012193.4(FZD4):c.*5168C>G SNV Uncertain significance 880531 GRCh37: 11:86657016-86657016
GRCh38: 11:86945974-86945974
45 FZD4 , PRSS23 NM_012193.4(FZD4):c.*3686C>G SNV Uncertain significance 880610 GRCh37: 11:86658498-86658498
GRCh38: 11:86947456-86947456
46 FZD4 , PRSS23 NM_012193.4(FZD4):c.*3618G>A SNV Uncertain significance 880612 GRCh37: 11:86658566-86658566
GRCh38: 11:86947524-86947524
47 FZD4 , PRSS23 NM_012193.4(FZD4):c.*2087C>T SNV Uncertain significance 880687 GRCh37: 11:86660097-86660097
GRCh38: 11:86949055-86949055
48 FZD4 , PRSS23 NM_012193.4(FZD4):c.*2051G>A SNV Uncertain significance 880688 GRCh37: 11:86660133-86660133
GRCh38: 11:86949091-86949091
49 FZD4 , PRSS23 NM_012193.4(FZD4):c.*1050T>G SNV Uncertain significance 306387 rs538226404 GRCh37: 11:86661134-86661134
GRCh38: 11:86950092-86950092
50 FZD4 , PRSS23 NM_012193.4(FZD4):c.*2818G>A SNV Uncertain significance 306367 rs886048726 GRCh37: 11:86659366-86659366
GRCh38: 11:86948324-86948324

UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 1:

72 (show all 23)
# Symbol AA change Variation ID SNP ID
1 FZD4 p.Met105Val VAR_038947 rs80358284
2 FZD4 p.Met157Val VAR_038948 rs80358286
3 FZD4 p.Gly36Asp VAR_063921 rs80358281
4 FZD4 p.Glu40Gln VAR_063922 rs139401671
5 FZD4 p.His69Tyr VAR_063923 rs80358282
6 FZD4 p.Met105Thr VAR_063924 rs80358285
7 FZD4 p.Ile114Thr VAR_063925
8 FZD4 p.Cys181Arg VAR_063927 rs80358287
9 FZD4 p.Cys204Arg VAR_063929 rs80358288
10 FZD4 p.Cys204Tyr VAR_063930 rs106479406
11 FZD4 p.Met223Lys VAR_063931
12 FZD4 p.Ile256Val VAR_063932 rs104894223
13 FZD4 p.Trp335Cys VAR_063933 rs80358292
14 FZD4 p.Met342Val VAR_063934 rs80358293
15 FZD4 p.Arg417Gln VAR_063936 rs80358294
16 FZD4 p.Thr445Pro VAR_063937 rs80358297
17 FZD4 p.Gly488Asp VAR_063938 rs80358298
18 FZD4 p.Ser497Phe VAR_063939 rs80358300
19 FZD4 p.Gly525Arg VAR_063940
20 LRP5 p.Arg348Trp VAR_063948 rs132006503
21 LRP5 p.Asp381Asn VAR_076548 rs133227486
22 LRP5 p.Arg624Trp VAR_076549 rs989864153
23 LRP5 p.Tyr1517Cys VAR_076550 rs201030241

Expression for Exudative Vitreoretinopathy 1

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 1.

Pathways for Exudative Vitreoretinopathy 1

Pathways related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.15 WNT7B WNT7A WNT3A WNT16 WNT11 VEGFC
2
Show member pathways
13.43 WNT7B WNT7A WNT3A WNT16 WNT11 LRP5
3
Show member pathways
13.32 WNT7B WNT7A WNT3A WNT16 WNT11 VEGFC
4
Show member pathways
13.04 WNT7B WNT7A WNT3A WNT16 WNT11 VEGFC
5
Show member pathways
12.95 WNT7B WNT7A WNT3A WNT16 WNT11 LRP5
6
Show member pathways
12.91 WNT7B WNT7A WNT3A WNT16 WNT11 FZD4
7
Show member pathways
12.81 WNT7B WNT7A WNT3A WNT16 WNT11 LRP5
8
Show member pathways
12.72 WNT7B WNT7A WNT3A WNT16 WNT11 VEGFA
9
Show member pathways
12.58 WNT7B WNT7A WNT3A WNT16 WNT11 LRP5
10
Show member pathways
12.55 WNT7B WNT7A WNT3A WNT16 WNT11 FZD4
11
Show member pathways
12.48 WNT7B WNT7A WNT3A WNT16 WNT11 FZD4
12
Show member pathways
12.46 WNT3A LRP5 FZD4 CTNNB1
13 12.43 WNT7B WNT7A WNT3A WNT16 WNT11 LRP5
14 12.42 WNT7B WNT7A WNT3A WNT16 WNT11 VEGFC
15
Show member pathways
12.37 WNT7B WNT7A WNT3A WNT16 WNT11 FZD4
16 12.24 WNT7B WNT7A WNT3A WNT16 WNT11 VEGFA
17 12.21 WNT3A LRP5 DLL4 CTNNB1
18 12.2 WNT7B WNT7A WNT3A WNT16 WNT11 FZD4
19 12.14 WNT7B WNT7A WNT3A FZD4 CTNNB1
20
Show member pathways
12.11 WNT7B WNT7A WNT3A WNT16 WNT11 LRP5
21 12.1 WNT7B WNT7A WNT3A WNT16 WNT11 FZD4
22 12.06 WNT7B WNT7A WNT3A WNT16 WNT11 CTNNB1
23 11.98 WNT7B WNT7A WNT3A WNT16 WNT11 LRP5
24 11.93 VLDLR LRP5 FZD4 CTNNB1
25
Show member pathways
11.88 VEGFC VEGFA NRP2 CTNNB1
26 11.85 WNT3A DLL4 CTNNB1
27 11.78 VEGFC NRP2 DLL4
28 11.74 WNT16 WNT11 FZD4 CTNNB1
29
Show member pathways
11.59 WNT7B WNT7A WNT3A WNT16 WNT11 CTNNB1
30 11.49 WNT7B WNT3A VEGFA
31 11.49 WNT7B WNT7A WNT3A WNT16 WNT11 VEGFA
32 11.47 VEGFC VEGFA CTNNB1
33 11.32 WNT7B WNT7A WNT3A LRP5 FZD4
34
Show member pathways
11.29 WNT3A LRP5 FZD4
35 10.93 VEGFA DLL4
36
Show member pathways
10.87 VEGFC VEGFA
37 10.61 VEGFC VEGFA

GO Terms for Exudative Vitreoretinopathy 1

Cellular components related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.76 WNT7B WNT7A WNT3A PRSS23
2 cell surface GO:0009986 9.73 WNT7A WNT3A VEGFA NDP FZD4 CD55
3 extracellular region GO:0005576 9.73 WNT7B WNT7A WNT3A WNT16 WNT11 VEGFC
4 extracellular matrix GO:0031012 9.71 WNT7A WNT11 VEGFA NDP
5 Golgi lumen GO:0005796 9.61 WNT7B WNT7A WNT3A
6 endocytic vesicle membrane GO:0030666 9.5 WNT7B WNT7A WNT3A
7 Wnt signalosome GO:1990909 9.37 LRP5 CTNNB1
8 extracellular space GO:0005615 9.36 WNT7B WNT7A WNT3A WNT16 WNT11 VLDLR
9 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.16 WNT3A LRP5

Biological processes related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.21 WNT11 VEGFC VEGFA NRP2 DLL4 CTNNB1
2 positive regulation of cell proliferation GO:0008284 10.11 WNT7A WNT3A VEGFC VEGFA LRP5 CTNNB1
3 positive regulation of transcription, DNA-templated GO:0045893 10.11 WNT7A WNT3A WNT11 NDP LRP5 FZD4
4 nervous system development GO:0007399 10.09 VLDLR VEGFA NRP2 NDP DLL4 CTNNB1
5 negative regulation of gene expression GO:0010629 10.03 VEGFA OCLN DLL4 CTNNB1
6 positive regulation of cell migration GO:0030335 10.01 WNT11 VEGFC VEGFA MYOC
7 multicellular organism development GO:0007275 10 WNT7B WNT7A WNT3A WNT16 WNT11 VEGFC
8 in utero embryonic development GO:0001701 9.99 WNT7B WNT3A VEGFA CTNNB1
9 angiogenesis GO:0001525 9.97 WNT7A VEGFC VEGFA TSPAN12 NRP2 DLL4
10 positive regulation of gene expression GO:0010628 9.97 WNT7A WNT3A WNT16 WNT11 VEGFA OCLN
11 osteoblast differentiation GO:0001649 9.9 WNT3A WNT11 MYOC
12 lung development GO:0030324 9.9 WNT7B VEGFA CTNNB1
13 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.9 WNT16 VEGFA MYOC
14 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.89 WNT7A WNT11 FZD4
15 cellular response to leukemia inhibitory factor GO:1990830 9.89 VEGFC NRP2 FZD4
16 positive regulation of JNK cascade GO:0046330 9.89 WNT7B WNT7A WNT16
17 positive regulation of endothelial cell proliferation GO:0001938 9.88 VEGFC VEGFA NRP2
18 positive regulation of DNA-binding transcription factor activity GO:0051091 9.88 WNT3A NDP LRP5 FZD4 CTNNB1
19 positive regulation of osteoblast differentiation GO:0045669 9.87 WNT7B LRP5 CTNNB1
20 positive regulation of endothelial cell migration GO:0010595 9.86 WNT7A VEGFA NRP2
21 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.86 VEGFC VEGFA NRP2
22 vasculogenesis GO:0001570 9.85 VEGFA FZD4 CTNNB1
23 positive regulation of protein kinase activity GO:0045860 9.85 WNT3A VLDLR VEGFC
24 synapse organization GO:0050808 9.84 WNT7B WNT7A CTNNB1
25 cellular response to retinoic acid GO:0071300 9.83 WNT7B WNT3A WNT11 FZD4
26 embryonic digit morphogenesis GO:0042733 9.82 WNT7A LRP5 CTNNB1
27 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.81 WNT11 FZD4 CTNNB1
28 branching involved in blood vessel morphogenesis GO:0001569 9.79 VEGFA DLL4 CTNNB1
29 negative regulation of neurogenesis GO:0050768 9.77 WNT7A WNT3A CTNNB1
30 non-canonical Wnt signaling pathway GO:0035567 9.76 WNT7A WNT11 FZD4
31 positive regulation of neuroblast proliferation GO:0002052 9.75 VEGFC VEGFA CTNNB1
32 bone remodeling GO:0046849 9.73 WNT16 LRP5
33 gastrulation with mouth forming second GO:0001702 9.73 LRP5 CTNNB1
34 induction of positive chemotaxis GO:0050930 9.73 VEGFC VEGFA
35 positive regulation of neural precursor cell proliferation GO:2000179 9.73 WNT3A DLL4 CTNNB1
36 presynapse assembly GO:0099054 9.72 WNT7A WNT3A
37 morphogenesis of embryonic epithelium GO:0016331 9.72 VEGFC CTNNB1
38 positive regulation of mesenchymal cell proliferation GO:0002053 9.72 VEGFA LRP5 CTNNB1
39 cell fate commitment GO:0045165 9.72 WNT7B WNT7A WNT3A WNT16 WNT11
40 cell proliferation in forebrain GO:0021846 9.71 WNT7A WNT3A
41 positive regulation of protein kinase C signaling GO:0090037 9.71 WNT11 VEGFA
42 vascular endothelial growth factor signaling pathway GO:0038084 9.71 VEGFC VEGFA NRP2
43 lens fiber cell development GO:0070307 9.7 WNT7B WNT7A
44 sympathetic ganglion development GO:0061549 9.7 NRP2 CTNNB1
45 somatic stem cell division GO:0048103 9.7 WNT7A WNT3A
46 neuron differentiation GO:0030182 9.7 WNT7B WNT7A WNT3A WNT16 WNT11 FZD4
47 secondary palate development GO:0062009 9.69 WNT7A WNT3A WNT11
48 positive regulation of skeletal muscle tissue development GO:0048643 9.68 WNT3A CTNNB1
49 positive regulation of core promoter binding GO:1904798 9.67 WNT3A CTNNB1
50 synaptic vesicle recycling GO:0036465 9.67 WNT7A WNT3A

Molecular functions related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.38 ZNF408 WNT7B WNT7A WNT3A WNT11 VLDLR
2 signaling receptor binding GO:0005102 9.77 WNT7B WNT7A WNT3A WNT16 WNT11
3 cytokine activity GO:0005125 9.5 WNT7B WNT7A WNT3A WNT16 WNT11 VEGFA
4 receptor ligand activity GO:0048018 9.46 WNT7B WNT7A WNT3A VEGFA
5 Wnt-activated receptor activity GO:0042813 9.43 TSPAN12 LRP5 FZD4
6 vascular endothelial growth factor receptor binding GO:0005172 9.32 VEGFC VEGFA
7 frizzled binding GO:0005109 9.17 WNT7B WNT7A WNT3A WNT16 WNT11 NDP

Sources for Exudative Vitreoretinopathy 1

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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