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 56 12 29 6 15 71
Retinopathy of Prematurity 56 12 52 58 29 6 43 15 39 17 71 32
Retrolental Fibroplasia 12 74 52 58
Evr1 56 12 73
Familial Exudative Vitreoretinopathy, Autosomal Dominant 24 29
Criswick-Schepens Syndrome 56 73
Rop 52 58
Exudative Vitreoretinopathy, Familial, Autosomal Dominant 56
Autosomal Dominant Familial Exudative Vitreoretinopathy 73
Vitreoretinopathy, Exudative, Type 1 39
Vitreoretinopathy, Exudative 1 73
Fevr, Autosomal Dominant 56
Premature Retinopathy 12
Adfevr 24
Fevr 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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


GeneReviews:

24
Penetrance When using fluorescein angiography to determine clinical status, penetrance is reported to be 100% because all affected individuals have a sector of avascular peripheral retina [ober et al 1980]....

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111412 DOID:13025
OMIM 56 133780
OMIM Phenotypic Series 56 PS133780
ICD9CM 34 362.21
MeSH 43 D012178
NCIt 49 C34982
SNOMED-CT 67 415297005
ICD10 32 H35.1
MESH via Orphanet 44 D012178
ICD10 via Orphanet 33 H35.1
UMLS via Orphanet 72 C0035344
Orphanet 58 ORPHA90050
UMLS 71 C0035344 C1851402

Summaries for Exudative Vitreoretinopathy 1

OMIM : 56 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)

MalaCards based summary : Exudative Vitreoretinopathy 1, also known as retinopathy of prematurity, is related to exudative vitreoretinopathy 3 and exudative vitreoretinopathy 4, 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 Nanog in Mammalian ESC Pluripotency and Parkinson disease. The drugs Ranibizumab and Ketamine have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotypes are premature birth and small for gestational age

UniProtKB/Swiss-Prot : 73 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 : 74 Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a... more...

GeneReviews: NBK1147

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 292)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 3 33.2 TSPAN12 NDP FZD4
2 exudative vitreoretinopathy 4 33.0 WNT16 TSPAN12 NDP MYOC LRP5 FZD4
3 exudative vitreoretinopathy 32.7 ZNF408 WNT7B WNT7A WNT16 VEGFA TSPAN12
4 exudative vitreoretinopathy 2, x-linked 32.7 NDP LRP5 FZD4 FZD1
5 coats disease 31.5 ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
6 persistent hyperplastic primary vitreous 31.5 ZNF408 WNT7B TSPAN12 NDP LRP5 FZD4
7 retinal detachment 31.4 ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
8 vitreoretinopathy 31.4 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
9 retinal vascular disease 30.9 ZNF408 VEGFA TSPAN12 OCLN NDP LRP5
10 macular degeneration, age-related, 1 30.9 VLDLR VEGFC VEGFA MYOC CD55
11 norrie disease 30.7 ZNF408 WNT7B WNT7A WNT16 TSPAN12 NDP
12 osteoporosis 30.7 WNT16 VEGFA NDP LRP5 FZD4 CTNNB1
13 kuhnt-junius degeneration 30.5 VLDLR VEGFC VEGFA
14 leukocoria 30.5 ZNF408 TSPAN12 NDP LRP5 FZD4
15 fundus dystrophy 30.3 ZNF408 VEGFA TSPAN12 MYOC LRP5 FZD4
16 exudative vitreoretinopathy 5 11.5
17 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2
18 mental retardation with language impairment and with or without autistic features 11.2
19 microcephaly and chorioretinopathy, autosomal recessive, 1 11.1
20 aqueous misdirection 11.1
21 yemenite deaf-blind hypopigmentation syndrome 11.1
22 joint laxity, short stature, and myopia 10.9
23 myopia 10.9
24 refractive error 10.8
25 strabismus 10.8
26 mechanical strabismus 10.8
27 bronchopulmonary dysplasia 10.7
28 enterocolitis 10.6
29 patent ductus arteriosus 1 10.6
30 perinatal necrotizing enterocolitis 10.6
31 astigmatism 10.6
32 cataract 10.6
33 vitreous disease 10.6 VEGFA NDP FZD4
34 peripheral retinal degeneration 10.6 ZNF408 TSPAN12 MYOC
35 suppression amblyopia 10.6
36 amblyopia 10.6
37 retinal telangiectasia 10.5 ZNF408 VEGFA TSPAN12 NDP FZD4
38 microvascular complications of diabetes 5 10.5
39 van buchem disease 10.5 WNT16 LRP5 CTNNB1
40 anisometropia 10.5
41 anoxia 10.5
42 lymphangioma 10.5 VEGFC VEGFA CTNNB1
43 gorham's disease 10.5 VEGFC VEGFA
44 osteoporosis-pseudoglioma syndrome 10.5 WNT16 VLDLR NDP LRP5 FZD4 CTNNB1
45 breast carcinoma in situ 10.5 VEGFC VEGFA CTNNB1
46 pre-eclampsia 10.5
47 vascular disease 10.5
48 incontinentia pigmenti 10.5
49 neovascular glaucoma 10.5
50 lymphangiosarcoma 10.5 VEGFC VEGFA

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 abnormality of the retinal vasculature 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 posterior vitreous detachment 31 HP:0001489
17 falciform retinal fold 31 HP:0001493
18 peripheral retinal avascularization 31 HP:0007685

Symptoms via clinical synopsis from OMIM:

56
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

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 9.47 VLDLR
2 Decreased viability GR00249-S 9.47 NDP VEGFA VEGFC WNT16 WNT7B
3 Decreased viability GR00381-A-1 9.47 MYOC
4 Decreased viability GR00386-A-1 9.47 NDP OCLN WNT7B
5 Decreased viability GR00402-S-2 9.47 NDP TSPAN12 VLDLR WNT7B

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 CTNNB1 DLL4 FZD1 FZD4 LRP5 NDP
2 behavior/neurological MP:0005386 10.24 ATP7B CD55 CTNNB1 FZD1 FZD4 LRP5
3 homeostasis/metabolism MP:0005376 10.18 ATP7B CD55 CTNNB1 DLL4 FZD1 FZD4
4 embryo MP:0005380 10.11 CTNNB1 DLL4 FZD1 FZD4 LRP5 TCEA1
5 endocrine/exocrine gland MP:0005379 10.09 ATP7B CTNNB1 DLL4 FZD1 FZD4 LRP5
6 nervous system MP:0003631 10.06 ATP7B CTNNB1 FZD1 FZD4 LRP5 NDP
7 hearing/vestibular/ear MP:0005377 9.88 CTNNB1 FZD1 FZD4 NDP TSPAN12 WNT7A
8 normal MP:0002873 9.86 CTNNB1 DLL4 FZD1 FZD4 LRP5 MYOC
9 pigmentation MP:0001186 9.7 ATP7B CTNNB1 FZD1 FZD4 LRP5 NDP
10 skeleton MP:0005390 9.61 CTNNB1 FZD1 LRP5 NDP OCLN VEGFA
11 vision/eye MP:0005391 9.36 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 188)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
5
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
6
Zinc Approved, Investigational Phase 4 7440-66-6 32051
7
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
8
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
9
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
10
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
11 Trace Elements Phase 4
12 Vitamins Phase 4
13 Micronutrients Phase 4
14 Mitogens Phase 4
15 Endothelial Growth Factors Phase 4
16 Excitatory Amino Acid Antagonists Phase 4
17 Hypnotics and Sedatives Phase 4
18 Platelet Aggregation Inhibitors Phase 4
19 Anesthetics, General Phase 4
20 Anesthetics, Intravenous Phase 4
21 Neuromuscular Blocking Agents Phase 4
22 Anesthetics, Inhalation Phase 4
23 Anesthetics, Dissociative Phase 4
24 Antioxidants Phase 4
25 Protective Agents Phase 4
26 Retinol palmitate Phase 4
27 retinol Phase 4
28 Lactoferrin Phase 4
29 Anti-Bacterial Agents Phase 4
30 Antibiotics, Antitubercular Phase 4
31 Dermatologic Agents Phase 4
32 Gentamicins Phase 4
33 Hormones Phase 4
34 Anti-Inflammatory Agents Phase 4
35 Respiratory System Agents Phase 4
36 Hormone Antagonists Phase 4
37 glucocorticoids Phase 4
38 Anti-Asthmatic Agents Phase 4
39
Terlipressin Approved, Investigational Phase 2, Phase 3 14636-12-5 72081
40
Ipratropium Approved, Experimental Phase 2, Phase 3 60205-81-4, 22254-24-6 43232 657309
41
Glucagon Approved Phase 2, Phase 3 16941-32-5
42
Atropine Approved, Vet_approved Phase 2, Phase 3 51-55-8, 5908-99-6 174174
43
Isoproterenol Approved, Investigational Phase 2, Phase 3 7683-59-2 3779
44
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
45
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
46
Progesterone Approved, Vet_approved Phase 2, Phase 3 57-83-0 5994
47
Phenylephrine Approved Phase 3 59-42-7 6041
48
Oxymetazoline Approved, Investigational Phase 3 1491-59-4 4636
49
Tropicamide Approved, Investigational Phase 3 1508-75-4 5593
50
Pseudoephedrine Approved Phase 3 90-82-4 7028

Interventional clinical trials:

(show top 50) (show all 207)
# Name Status NCT ID Phase Drugs
1 Topical Application of ACULAR a Randomized, Vehicle Controlled Clinical Trial: Efficiency in Inhibiting Proliferative Retinopathy of Prematurity Unknown status NCT00634972 Phase 4 ACULAR;REFRESH TEARS;placebo
2 Early Bubble CPAP (EBCPAP) in Very Low Birth Weight Infants (VLBWI) Unknown status NCT00368680 Phase 4
3 The Effect of Withholding Feeds During Red Blood Cell Transfusion on Development of TRAGI in Very Low Birth Weight Infants Unknown status NCT02132819 Phase 4
4 THE EFFECT OF SUSTAINED LUNG INFLATION MANEUVER APPLIED THROUGH NASAL PRONG ON EARLY AND LATE RESPIRATORY MORBIDITIES IN PRETERM INFANTS Unknown status NCT02887924 Phase 4
5 Sucrose and Non Nutritive Suck as Analgesia for Babies Undergoing Retinopathy of Prematurity Screening; a Randomised Placebo Controlled Trial Completed NCT00921544 Phase 4
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 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage V. Completed NCT00500396 Phase 4
9 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
10 Comparison of Conventional Instillation and Lower Conjunctival Fornix Packing in Mydriasis for Premature Infants Completed NCT00877175 Phase 4 1% tropicamide and 2.5% phenylephrine
11 Systematic Randomized , Single Blinded, Placebo-Controlled Trial of Early Versus Late Lactoferrin in Prevention of Neonatal Sepsis Completed NCT02959229 Phase 4 Lactoferrin;Placebo (for Lactoferrin)
12 Does Additional Vitamin A Supplementation Improve Retinal Function and Conjunctival Health in Very Low Birthweight Infants? Completed NCT00417404 Phase 4 Aquasol A;aquasol A
13 Synchronized Intermittent Mandatory Ventilation (SIMV) Versus Nasal Intermittent Positive Pressure Ventilation (NIPPV) In Preterm Infants With Respiratory Distress Completed NCT00486850 Phase 4
14 Multicentre Randomised Controlled Trial of Minimally-invasive Surfactant Therapy in Preterm Infants 25-28 Weeks Gestation on Continuous Positive Airways Pressure Active, not recruiting NCT02140580 Phase 4
15 Oral Zinc Supplementation Improving Growth and Reducing Morbidity on Very Low Birth Weight Infant Not yet recruiting NCT04050488 Phase 4 Zinc Sulfate;Placebos
16 NICU Antibiotics and Outcomes Trial Not yet recruiting NCT03997266 Phase 4 Ampicillin;Gentamycin;Normal saline
17 Impact of Early Postnatal Sodium Supplementation on Weight Gain in Very Low Birth Weight Infants Terminated NCT01795638 Phase 4 Sodium chloride;Placebo
18 Randomized Trial on Efficacy and Safety of the Antenatal Rescue Course of Glucocorticoids in Threatened Premature Birth (ACG Trial) Terminated NCT00295464 Phase 4 Betamethasone sodium phos (drug)
19 Antiangiogenic Therapy With Bevacizumab in Retinopathy of Prematurity. Structural Outcome Unknown status NCT00346814 Phase 2, Phase 3 intravitreal injection
20 The Early Treatment for Retinopathy of Prematurity Study (ETROP) Unknown status NCT00027222 Phase 2, Phase 3
21 Nasal Intermittent Mandatory Ventilation Versus Continuous Positive Airway Pressure After Extubation of Very Low Birth Weight Infants of the NEOCOSUR Network. Unknown status NCT01778829 Phase 3
22 Evaluating the Efficacy and Safety of an Innovative and Affordable Goat Lung Surfactant for the Treatment of Respiratory Distress Syndrome in Preterm Neonates: a Multi-site Randomized Clinical Trial Unknown status NCT02774044 Phase 2, Phase 3 Cadisurf;Survanta
23 Effect of Cysteine Supplementation on Glutathione Production in Critically Ill Neonates Unknown status NCT00254176 Phase 2, Phase 3
24 Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity Completed NCT01203436 Phase 2, Phase 3
25 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
26 A Randomized Controlled Trial of Two Hemoglobin Thresholds for Transfusion in Newborns <1000g Birth Weight Completed NCT00182390 Phase 3
27 Safety and Efficacy of Treatment With Propranolol in Newborns With Retinopathy of Prematurity: a Pilot Study Completed NCT01079715 Phase 2, Phase 3 Propranolol
28 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
29 The Effects of Light Reduction on Retinopathy of Prematurity (Light-ROP) Completed NCT00000156 Phase 3
30 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
31 Pentoxifylline Therapy of Late-onset Sepsis in Preterm Infants: A Randomized Controlled Trial. Completed NCT02163174 Phase 3 Pentoxifylline (PTX);Placebo
32 High Versus Low Dose of Caffeine for Apnea of Prematurity: A Double Blind Randomized Control Trial Completed NCT02103777 Phase 3 Caffeine citrate
33 L-Thyroxine Supplementation for Preterm Newborns Less Than 32 Weeks of Gestation With Transient Hypothyroxinemia of Prematurity: a Prospective Randomized Double-blind Trial Completed NCT01306227 Phase 3 L-Thyroxine;water
34 Inhaled NO in Prevention of Chronic Lung Disease Completed NCT00000548 Phase 3
35 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
36 Comparison of Intravenous Ibuprofen vs. Continuous Indomethacin in the Treatment of Patent Ductus Arteriosus Completed NCT00485160 Phase 3 Continuous indomethacin;ibuprofen
37 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%
38 High-dose Ibuprofen for Patent Ductus Arteriosus in Extremely Preterm Infants: a Randomized Controlled Study Completed NCT01243996 Phase 2, Phase 3 Ibuprofen
39 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
40 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)
41 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
42 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) Recruiting NCT04004208 Phase 3 Eylea (Aflibercept, BAY86-5321)
43 A Double Blinded Randomized Controlled Trial of Early Use of Oral Progesterone in All Women for Prevention of Preterm Delivery in Singleton Pregnancy (SINPRO Study) Recruiting NCT03428685 Phase 2, Phase 3 Dydrogesterone Oral Tablet;Placebo Oral Tablet
44 Nordic Study on Human Milk Fortification in Extremely Preterm Infants: a Randomized Controlled Trial Recruiting NCT03797157 Phase 2, Phase 3
45 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
46 Effect of Autologous Cord Blood Mononuclear Cells for Prevention of Bronchopulmonary Dysplasia in Extremely Preterm Neonates: a Placebo-controlled Randomized Multicenter Trial Not yet recruiting NCT04440670 Phase 3
47 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
48 Efficacy and Tolerance of Ophthalmic Insert Mydriasert® Versus Reference Treatment (Phenylephrine and Tropicamide Eyedrops) in Premature Newborns, Neonates and Infants Justifying a Mydriasis for a Bilateral Diagnosis Fundus Terminated NCT00642135 Phase 3 Mydriasert®;phenylephrine and tropicamide eyedrops
49 Safety and Efficacy of Propranolol Treatment in Newborns With Retinopathy of Prematurity:a Prospective Cohort Study Unknown status NCT03038295 Phase 2 Propranolol;placebo
50 TIME TO RE-EVALUATE THE KINDER GENTLER APPROACH TO PATENT DUCTUS ARTERIOSUS (PDA) IN THE PRETERM NEONATE Unknown status NCT02819414 Phase 2 Paracetamol drops

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, Endothelial, Retina, Lung, Brain, Breast, Testes

Publications for Exudative Vitreoretinopathy 1

Articles related to Exudative Vitreoretinopathy 1:

(show top 50) (show all 6374)
# Title Authors PMID Year
1
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 24 56 6 61
15733276 2005
2
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 24 6 56
15981244 2005
3
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 56 24 6
14507768 2003
4
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 24 56 6
12172548 2002
5
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 56 6
15488808 2004
6
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease. 24 56
21097938 2011
7
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 56 24
20159112 2010
8
Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. 56 24
1985487 1991
9
Retinal vascular pattern in familial exudative vitreoretinopathy. 24 56
6084219 1984
10
Autosomal dominant exudative vitreoretinopathy. 56 24
7362811 1980
11
The rod photoreceptors in retinopathy of prematurity: an electroretinographic study. 56 61
11296015 2001
12
Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. 56
28494495 2017
13
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. 56
25124931 2014
14
Clinical presentation of familial exudative vitreoretinopathy. 56
21868098 2011
15
The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease. 61 24
20688566 2010
16
Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene. 24 61
20008721 2009
17
Familial Exudative Vitreoretinopathy, Autosomal Dominant 6
20301326 2005
18
A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. 61 24
11179025 2001
19
Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. 56
8020986 1994
20
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. 56
1415220 1992
21
The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. 56
1598965 1992
22
Criswick-Schepens syndrome (familial exudative vitreoretinopathy). Study of a Colombian kindred. 56
6487118 1984
23
Autosomal dominant exudative vitreoretinopathy. 56
6626002 1983
24
Falciform retinal fold as sign of familial exudative vitreoretinopathy. 56
6855020 1983
25
Retinal involvement in familial exudative vitreoretinopathy. 56
7133626 1982
26
Pathologic findings in familial exudative vitreoretinopathy. 56
7305712 1981
27
Congenital retinal fold as a sign of dominant exudative vitreoretinopathy. 56
6911005 1981
28
Familial exudative vitreoretinopathy. 56
6906151 1980
29
Familial exudative vitreoretinopathy. 56
434067 1979
30
Flourescein angiography in mild stages of dominant exudative vitreoretinopathy. 56
548734 1979
31
Dominantly inherited peripheral retinal neovascularization. 56
687201 1978
32
Fluorescein angiographic findings in familial exudative vitreoretinopathy. 56
947162 1976
33
Familial exudative vitreoretinopathy. An expanded view. 56
5571414 1971
34
Familial exudative vitreoretinopathy. 56
5394449 1969
35
CONGENITAL RETINAL FOLD. 56
18169329 1935
36
Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. 24
21334594 2011
37
Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy. 24
20938005 2010
38
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. 24
20340138 2010
39
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. 24
20159111 2010
40
TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling. 24
19837033 2009
41
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 24
19324841 2009
42
Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5. 24
16929062 2006
43
Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 24
17093393 2006
44
Comment on 'cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy'. 24
16319824 2006
45
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. 24
16252235 2005
46
Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. 24
15346351 2004
47
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. 24
15223780 2004
48
Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). 24
15370539 2004
49
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. 24
15024691 2004
50
LDL receptor-related proteins 5 and 6 in Wnt/beta-catenin signaling: arrows point the way. 24
15084453 2004

Variations for Exudative Vitreoretinopathy 1

ClinVar genetic disease variations for Exudative Vitreoretinopathy 1:

6 (show top 50) (show all 136) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 15 genes: DLG2 , FZD4 deletion Pathogenic 560087 11:83315294-86755595
2 FZD4 NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del)deletion Pathogenic 5484 rs80358301 11:86662314-86662319 11:86951272-86951277
3 FZD4 NM_012193.4(FZD4):c.1499_1500CT[1] (p.Leu501fs)short repeat Pathogenic 5485 rs80358303 11:86662296-86662297 11:86951254-86951255
4 FZD4 NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln)SNV Pathogenic 5486 rs80358294 11:86662548-86662548 11:86951506-86951506
5 FZD4 NM_012193.4(FZD4):c.1024A>G (p.Met342Val)SNV Pathogenic 5487 rs80358293 11:86662774-86662774 11:86951732-86951732
6 FZD4 NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys)SNV Pathogenic 5488 rs80358292 11:86662793-86662793 11:86951751-86951751
7 FZD4 NM_012193.4(FZD4):c.766A>G (p.Ile256Val)SNV Pathogenic 5489 rs104894223 11:86663032-86663032 11:86951990-86951990
8 FZD4 NM_012193.4(FZD4):c.313A>G (p.Met105Val)SNV Pathogenic 224624 rs80358284 11:86663485-86663485 11:86952443-86952443
9 CTNNB1 NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs)insertion Pathogenic 225170 rs1057519379 3:41275268-41275269 3:41233777-41233778
10 CTNNB1 NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys)SNV Pathogenic 225171 rs748653573 3:41279558-41279558 3:41238067-41238067
11 CTNNB1 NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter)duplication Pathogenic 225172 rs1057519380 3:41280628-41280629 3:41239137-41239138
12 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)SNV Conflicting interpretations of pathogenicity 183255 rs61889560 11:68191036-68191036 11:68423568-68423568
13 FZD4 NM_012193.4(FZD4):c.205C>T (p.His69Tyr)SNV Conflicting interpretations of pathogenicity 143141 rs80358282 11:86665923-86665923 11:86954881-86954881
14 FZD4 NM_012193.4(FZD4):c.1009C>A (p.His337Asn)SNV Conflicting interpretations of pathogenicity 497650 rs146895719 11:86662789-86662789 11:86951747-86951747
15 FZD4 NM_012193.4(FZD4):c.76C>A (p.Gln26Lys)SNV Conflicting interpretations of pathogenicity 836786 11:86666052-86666052 11:86955010-86955010
16 FZD4 NM_012193.4(FZD4):c.*4756G>CSNV Uncertain significance 881943 11:86657428-86657428 11:86946386-86946386
17 FZD4 NM_012193.4(FZD4):c.*5256G>ASNV Uncertain significance 880530 11:86656928-86656928 11:86945886-86945886
18 FZD4 NM_012193.4(FZD4):c.*5168C>GSNV Uncertain significance 880531 11:86657016-86657016 11:86945974-86945974
19 FZD4 NM_012193.4(FZD4):c.*4386T>GSNV Uncertain significance 883121 11:86657798-86657798 11:86946756-86946756
20 FZD4 NM_012193.4(FZD4):c.*3974C>TSNV Uncertain significance 883898 11:86658210-86658210 11:86947168-86947168
21 FZD4 NM_012193.4(FZD4):c.*3953G>CSNV Uncertain significance 883899 11:86658231-86658231 11:86947189-86947189
22 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val)SNV Uncertain significance 520692 rs201320326 11:68153967-68153967 11:68386499-68386499
23 FZD4 NM_012193.4(FZD4):c.461A>G (p.His154Arg)SNV Uncertain significance 801000 11:86663337-86663337 11:86952295-86952295
24 FZD4 NM_012193.4(FZD4):c.*3618G>ASNV Uncertain significance 880612 11:86658566-86658566 11:86947524-86947524
25 FZD4 NM_012193.4(FZD4):c.*3433T>GSNV Uncertain significance 882026 11:86658751-86658751 11:86947709-86947709
26 FZD4 NM_012193.4(FZD4):c.*3052C>TSNV Uncertain significance 882027 11:86659132-86659132 11:86948090-86948090
27 ZNF408 NM_024741.3(ZNF408):c.2145G>T (p.Glu715Asp)SNV Uncertain significance 183060 rs796065317 11:46727395-46727395 11:46705845-46705845
28 ZNF408 NM_024741.3(ZNF408):c.1850C>A (p.Thr617Asn)SNV Uncertain significance 183059 rs547169524 11:46727100-46727100 11:46705550-46705550
29 ZNF408 NM_024741.2(ZNF408):c.-214_-210delGAATCdeletion Uncertain significance 183054 rs796065313 11:46722382-46722386 11:46700832-46700836
30 ZNF408 NM_024741.2(ZNF408):c.-111C>ASNV Uncertain significance 183055 rs796065314 11:46722487-46722487 11:46700937-46700937
31 ZNF408 NM_024741.3(ZNF408):c.130C>T (p.Pro44Ser)SNV Uncertain significance 183056 rs796065315 11:46723026-46723026 11:46701476-46701476
32 ZNF408 NM_024741.3(ZNF408):c.402A>G (p.Gln134=)SNV Uncertain significance 183057 rs561320549 11:46724543-46724543 11:46702993-46702993
33 ZNF408 NM_024741.3(ZNF408):c.694A>G (p.Met232Val)SNV Uncertain significance 183058 rs796065316 11:46725944-46725944 11:46704394-46704394
34 FZD4 NM_012193.4(FZD4):c.*2182G>ASNV Uncertain significance 883974 11:86660002-86660002 11:86948960-86948960
35 FZD4 NM_012193.4(FZD4):c.*2091A>GSNV Uncertain significance 883975 11:86660093-86660093 11:86949051-86949051
36 FZD4 NM_012193.4(FZD4):c.*2087C>TSNV Uncertain significance 880687 11:86660097-86660097 11:86949055-86949055
37 FZD4 NM_012193.4(FZD4):c.*2051G>ASNV Uncertain significance 880688 11:86660133-86660133 11:86949091-86949091
38 FZD4 NM_012193.4(FZD4):c.*1459A>GSNV Uncertain significance 882094 11:86660725-86660725 11:86949683-86949683
39 FZD4 NM_012193.4(FZD4):c.*1397A>GSNV Uncertain significance 882095 11:86660787-86660787 11:86949745-86949745
40 FZD4 NM_012193.4(FZD4):c.*1252C>TSNV Uncertain significance 882096 11:86660932-86660932 11:86949890-86949890
41 FZD4 NM_012193.4(FZD4):c.*798G>CSNV Uncertain significance 883237 11:86661386-86661386 11:86950344-86950344
42 FZD4 NM_012193.4(FZD4):c.*701C>ASNV Uncertain significance 883238 11:86661483-86661483 11:86950441-86950441
43 FZD4 NM_012193.4(FZD4):c.*522C>GSNV Uncertain significance 884040 11:86661662-86661662 11:86950620-86950620
44 FZD4 NM_012193.4(FZD4):c.*461G>ASNV Uncertain significance 884041 11:86661723-86661723 11:86950681-86950681
45 FZD4 NM_012193.4(FZD4):c.*312C>TSNV Uncertain significance 884042 11:86661872-86661872 11:86950830-86950830
46 FZD4 NM_012193.4(FZD4):c.*173T>GSNV Uncertain significance 884043 11:86662011-86662011 11:86950969-86950969
47 FZD4 NM_012193.4(FZD4):c.*2619T>CSNV Uncertain significance 306372 rs886048727 11:86659565-86659565 11:86948523-86948523
48 FZD4 NM_012193.4(FZD4):c.*3792A>TSNV Uncertain significance 306355 rs886048722 11:86658392-86658392 11:86947350-86947350
49 FZD4 NM_012193.4(FZD4):c.*3746C>TSNV Uncertain significance 306357 rs886048723 11:86658438-86658438 11:86947396-86947396
50 FZD4 NM_012193.4(FZD4):c.*3042A>GSNV Uncertain significance 306364 rs886048725 11:86659142-86659142 11:86948100-86948100

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

73 (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 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 WNT7B WNT7A WNT16 VEGFC VEGFA FZD4
2
Show member pathways
13.13 WNT7B WNT7A WNT16 LRP5 FZD4 FZD1
3
Show member pathways
12.98 WNT7B WNT7A WNT16 VEGFC VEGFA CTNNB1
4
Show member pathways
12.97 WNT7B WNT7A WNT16 VEGFC VEGFA FZD4
5
Show member pathways
12.9 WNT7B WNT7A WNT16 LRP5 FZD4 FZD1
6
Show member pathways
12.87 WNT7B WNT7A WNT16 FZD4 FZD1 CTNNB1
7
Show member pathways
12.75 WNT7B WNT7A WNT16 LRP5 FZD4 FZD1
8
Show member pathways
12.52 WNT7B WNT7A WNT16 LRP5 FZD4 FZD1
9
Show member pathways
12.48 WNT7B WNT7A WNT16 FZD4 FZD1 CTNNB1
10
Show member pathways
12.45 LRP5 FZD4 FZD1 CTNNB1
11 12.44 WNT7B WNT7A WNT16 LRP5 FZD4 FZD1
12
Show member pathways
12.42 WNT7B WNT7A WNT16 FZD4 FZD1 CD55
13
Show member pathways
12.41 WNT7B WNT7A WNT16 LRP5 FZD4 FZD1
14 12.38 WNT7B WNT7A WNT16 VEGFC VEGFA LRP5
15
Show member pathways
12.32 WNT7B WNT7A WNT16 FZD4 FZD1 CTNNB1
16 12.22 WNT7B WNT7A WNT16 VEGFA FZD4 FZD1
17 12.18 WNT7B WNT7A WNT16 FZD4 FZD1 CTNNB1
18 12.13 WNT7B WNT7A FZD4 FZD1 CTNNB1
19 12.09 WNT7B WNT7A WNT16 FZD4 FZD1 CTNNB1
20
Show member pathways
12.05 WNT7B WNT7A WNT16 LRP5 FZD4 FZD1
21 11.99 VLDLR LRP5 FZD4 FZD1 CTNNB1
22 11.97 WNT7B WNT7A WNT16 CTNNB1
23 11.87 FZD4 FZD1 CTNNB1
24
Show member pathways
11.78 VEGFC VEGFA CTNNB1
25 11.75 WNT7B WNT7A WNT16 FZD4 FZD1 CTNNB1
26 11.74 WNT16 FZD4 FZD1 CTNNB1
27
Show member pathways
11.54 WNT7B WNT7A WNT16 FZD1 CTNNB1
28 11.47 VEGFC VEGFA CTNNB1
29 11.44 WNT7B WNT7A WNT16 VEGFA LRP5 FZD4
30 11 WNT7B WNT7A LRP5 FZD4 FZD1
31 10.92 FZD1 CTNNB1
32 10.91 VEGFA DLL4
33
Show member pathways
10.85 VEGFC VEGFA
34 10.59 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 extracellular region GO:0005576 9.91 WNT7B WNT7A WNT16 VEGFC VEGFA PRSS23
2 cell surface GO:0009986 9.63 WNT7A VEGFA NDP FZD4 FZD1 CD55
3 extracellular space GO:0005615 9.61 WNT7B WNT7A WNT16 VLDLR VEGFC VEGFA
4 Wnt signalosome GO:1990909 8.8 LRP5 FZD1 CTNNB1

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.09 WNT7B WNT7A WNT16 VEGFC VEGFA LRP5
2 positive regulation of transcription, DNA-templated GO:0045893 10.08 WNT7A NDP LRP5 FZD4 FZD1 CTNNB1
3 positive regulation of cell proliferation GO:0008284 10.06 WNT7A VEGFC VEGFA LRP5 CTNNB1
4 nervous system development GO:0007399 10.06 VLDLR VEGFA NDP DLL4 CTNNB1
5 positive regulation of gene expression GO:0010628 10.02 WNT7A WNT16 VEGFA OCLN DLL4 CTNNB1
6 negative regulation of gene expression GO:0010629 9.99 VEGFA OCLN DLL4 CTNNB1
7 angiogenesis GO:0001525 9.93 WNT7A VEGFC VEGFA TSPAN12 DLL4
8 lung development GO:0030324 9.85 WNT7B VEGFA CTNNB1
9 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.83 WNT7A FZD4 FZD1
10 positive regulation of JNK cascade GO:0046330 9.83 WNT7B WNT7A WNT16
11 cell fate commitment GO:0045165 9.82 WNT7B WNT7A WNT16
12 vasculogenesis GO:0001570 9.81 VEGFA FZD4 CTNNB1
13 positive regulation of osteoblast differentiation GO:0045669 9.81 WNT7B LRP5 CTNNB1
14 synapse organization GO:0050808 9.8 WNT7B WNT7A CTNNB1
15 positive regulation of DNA-binding transcription factor activity GO:0051091 9.8 NDP LRP5 FZD4 FZD1 CTNNB1
16 embryonic digit morphogenesis GO:0042733 9.79 WNT7A LRP5 CTNNB1
17 branching involved in blood vessel morphogenesis GO:0001569 9.73 VEGFA DLL4 CTNNB1
18 bone remodeling GO:0046849 9.69 WNT16 LRP5
19 negative regulation of oxidative stress-induced neuron death GO:1903204 9.68 FZD1 CTNNB1
20 vascular endothelial growth factor signaling pathway GO:0038084 9.68 VEGFC VEGFA
21 presynapse assembly GO:0099054 9.67 WNT7A FZD1
22 induction of positive chemotaxis GO:0050930 9.67 VEGFC VEGFA
23 non-canonical Wnt signaling pathway GO:0035567 9.67 WNT7A FZD4 FZD1
24 morphogenesis of embryonic epithelium GO:0016331 9.66 VEGFC CTNNB1
25 lens fiber cell development GO:0070307 9.65 WNT7B WNT7A
26 positive regulation of mesenchymal cell proliferation GO:0002053 9.65 VEGFA LRP5 CTNNB1
27 embryonic axis specification GO:0000578 9.63 WNT7A CTNNB1
28 positive regulation of neuroblast proliferation GO:0002052 9.63 VEGFC VEGFA CTNNB1
29 neuron differentiation GO:0030182 9.63 WNT7B WNT7A WNT16 FZD4 FZD1 CTNNB1
30 retinal blood vessel morphogenesis GO:0061304 9.61 LRP5 FZD4
31 positive regulation of mast cell chemotaxis GO:0060754 9.61 VEGFC VEGFA
32 regulation of vascular endothelial growth factor receptor signaling pathway GO:0030947 9.59 VEGFC FZD4
33 metanephros morphogenesis GO:0003338 9.58 WNT7B CTNNB1
34 oviduct development GO:0060066 9.58 WNT7A CTNNB1
35 astrocyte-dopaminergic neuron signaling GO:0036520 9.57 FZD1 CTNNB1
36 retina vasculature morphogenesis in camera-type eye GO:0061299 9.54 NDP LRP5 FZD4
37 renal outer medulla development GO:0072054 9.52 WNT7B CTNNB1
38 renal inner medulla development GO:0072053 9.51 WNT7B CTNNB1
39 extracellular matrix-cell signaling GO:0035426 9.5 NDP LRP5 FZD4
40 canonical Wnt signaling pathway GO:0060070 9.5 WNT7B WNT7A WNT16 LRP5 FZD4 FZD1
41 central nervous system vasculogenesis GO:0022009 9.43 WNT7B WNT7A CTNNB1
42 Wnt signaling pathway GO:0016055 9.28 WNT7B WNT7A WNT16 TSPAN12 NDP LRP5

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 10.36 ZNF408 WNT7B WNT7A VLDLR VEGFC VEGFA
2 cytokine activity GO:0005125 9.55 WNT7B WNT7A WNT16 VEGFA NDP
3 receptor ligand activity GO:0048018 9.5 WNT7B WNT7A VEGFA
4 Wnt-protein binding GO:0017147 9.43 LRP5 FZD4 FZD1
5 vascular endothelial growth factor receptor binding GO:0005172 9.37 VEGFC VEGFA
6 Wnt-activated receptor activity GO:0042813 9.26 TSPAN12 LRP5 FZD4 FZD1
7 frizzled binding GO:0005109 9.1 WNT7B WNT7A WNT16 NDP MYOC FZD1

Sources for Exudative Vitreoretinopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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