EVR1
MCID: EXD008
MIFTS: 70

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 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 34 362.20 362.21
MeSH 43 D012178
NCIt 49 C34982
SNOMED-CT 67 74277007
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 and patent ductus arteriosus 1, 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 ERK Signaling and Nanog in Mammalian ESC Pluripotency. The drugs Ranibizumab and Sevoflurane 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 344)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 33.1 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
2 patent ductus arteriosus 1 31.8 CPVL AVPR2 ATP7B
3 persistent hyperplastic primary vitreous 31.7 TSPAN12 NDP LRP5 FZD4
4 neovascular glaucoma 31.7 VEGFA PGF KDR FLT1
5 pre-eclampsia 31.5 VEGFA PGF KDR IGF1 FLT1
6 coats disease 31.5 ZNF408 VEGFA TSPAN12 NDP LRP5 KDR
7 eclampsia 31.5 VEGFA PGF FLT1
8 endophthalmitis 31.5 VEGFA PGF FLT1 CRYAA
9 microvascular complications of diabetes 5 31.5 VEGFA TEK PGF KDR IGF1 FLT1
10 vitreoretinopathy 31.4 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
11 retinal detachment 31.4 ZNF408 VEGFA TSPAN12 NDP LRP5 IGF1
12 macular retinal edema 31.3 VEGFA PGF KDR FLT1
13 eye disease 31.2 VEGFA PGF NDP KDR IGF1 FLT1
14 hemangioma 31.1 VEGFA TEK KDR FLT1
15 norrie disease 31.1 ZNF408 TSPAN12 NDP LRP5 FZD4 CTNNB1
16 hydrocephalus 31.1 VEGFA IGF1 EPO AVPR2
17 ischemia 31.1 VEGFA TEK KDR EPO
18 macular degeneration, age-related, 1 30.9 VEGFA TEK PGF KDR IGF1 FLT1
19 placenta disease 30.9 VEGFA PGF FLT1
20 osteoporosis 30.9 VEGFA NDP LRP5 IGF1 FZD4 CTNNB1
21 microvascular complications of diabetes 1 30.8 VEGFA IGF1 FLT1
22 keratitis, hereditary 30.6 VEGFA FLT1 CRYAA
23 leukocoria 30.6 ZNF408 TSPAN12 NDP LRP5 FZD4 CRYAA
24 retinal vascular disease 30.6 ZNF408 VEGFA TSPAN12 TEK PGF NDP
25 kuhnt-junius degeneration 30.5 VEGFA TEK PGF KDR FLT1
26 hypertension, essential 30.2 VEGFA TEK PGF LRP5 KDR IGF1
27 exudative vitreoretinopathy 3 11.6
28 exudative vitreoretinopathy 4 11.5
29 exudative vitreoretinopathy 5 11.5
30 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2
31 exudative vitreoretinopathy 2, x-linked 11.2
32 mental retardation with language impairment and with or without autistic features 11.2
33 microcephaly and chorioretinopathy, autosomal recessive, 1 11.1
34 yemenite deaf-blind hypopigmentation syndrome 11.1
35 myopia 10.9
36 refractive error 10.8
37 strabismus 10.8
38 mechanical strabismus 10.8
39 bronchopulmonary dysplasia 10.7
40 septate uterus 10.7 KDR FLT1
41 osteoporosis-pseudoglioma syndrome 10.7 NDP LRP5 FZD4 CTNNB1
42 angiokeratoma of mibelli 10.7 KDR FLT1
43 primary cutaneous b-cell lymphoma 10.7 VEGFA KDR FLT1
44 vitreous disease 10.7 VEGFA NDP CRYAA
45 hypertensive encephalopathy 10.7 VEGFA PGF EPO
46 cancer-associated retinopathy 10.7 VEGFA PGF FLT1
47 retinal telangiectasia 10.7 VEGFA TSPAN12 NDP FZD4
48 retinal perforation 10.7 VEGFA PGF CRYAA
49 uterine benign neoplasm 10.7 VEGFA IGF1 CTNNB1
50 reproductive organ benign neoplasm 10.7 VEGFA IGF1 CTNNB1

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 abnormal macular morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001103
5 retinal arteriolar tortuosity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001136
6 vitreous hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0007902
7 tractional retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0007917
8 reduced visual acuity 31 HP:0007663
9 abnormality of the retinal vasculature 58 Very frequent (99-80%)
10 retinal detachment 31 HP:0000541
11 recurrent fractures 31 HP:0002757
12 exudative vitreoretinopathy 31 HP:0030490
13 subcapsular cataract 31 HP:0000523
14 retinal exudate 31 HP:0001147
15 posterior vitreous detachment 31 HP:0001489
16 falciform retinal fold 31 HP:0001493
17 peripheral retinal avascularization 31 HP:0007685
18 retinal neovascularization 31 HP:0030666

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
blindness
vitreous hemorrhage
peripheral retinal avascularization
retinal neovascularization
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 shRNA abundance <= 50% GR00343-S 9.36 ATP7B AVPR2 CD38 CPVL IGF1 INPP5J

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 10.27 CTNNB1 EPO FLT1 FZD4 IGF1 KDR
2 homeostasis/metabolism MP:0005376 10.25 ATP7B AVPR2 CD38 CPVL CTNNB1 EPO
3 cellular MP:0005384 10.22 ATP7B CD38 CTNNB1 EPO FLT1 FZD4
4 hematopoietic system MP:0005397 10.21 ATP7B AVPR2 CD38 CTNNB1 EPO FLT1
5 embryo MP:0005380 10.11 CTNNB1 EPO FLT1 FZD4 KDR LRP5
6 immune system MP:0005387 10.11 ATP7B CD38 CPVL CTNNB1 EPO FLT1
7 integument MP:0010771 10.06 ATP7B AVPR2 CPVL CTNNB1 EPO FZD4
8 muscle MP:0005369 9.91 ATP7B CTNNB1 EPO FLT1 FZD4 IGF1
9 normal MP:0002873 9.85 CTNNB1 EPO FLT1 FZD4 IGF1 INPP5J
10 pigmentation MP:0001186 9.35 ATP7B CTNNB1 FZD4 LRP5 NDP
11 vision/eye MP:0005391 9.32 CTNNB1 FLT1 FZD4 KDR LRP5 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 200)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
3
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
6
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
7
Zinc Approved, Investigational Phase 4 7440-66-6 32051
8
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
9
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
10
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
11 Vitamins Phase 4
12 Mitogens Phase 4
13 Endothelial Growth Factors Phase 4
14 Platelet Aggregation Inhibitors Phase 4
15 Excitatory Amino Acid Antagonists Phase 4
16 Anesthetics, General Phase 4
17 Excitatory Amino Acids Phase 4
18 Anesthetics, Inhalation Phase 4
19 Hypnotics and Sedatives Phase 4
20 Anesthetics, Intravenous Phase 4
21 Neuromuscular Blocking Agents Phase 4
22 Anesthetics, Dissociative Phase 4
23 Protective Agents Phase 4
24 Antioxidants Phase 4
25 Retinol palmitate Phase 4
26 retinol Phase 4
27 Lactoferrin Phase 4
28 Trace Elements Phase 4
29 Micronutrients Phase 4
30 Nutrients Phase 4
31 Antibiotics, Antitubercular Phase 4
32 Gentamicins Phase 4
33 Antitubercular Agents Phase 4
34 Anti-Bacterial Agents Phase 4
35 Astringents Phase 4
36 Dermatologic Agents Phase 4
37 Hormones Phase 4
38 Betamethasone Valerate Phase 4 2152-44-5
39 Betamethasone-17,21-dipropionate Phase 4
40 Betamethasone benzoate Phase 4
41 Betamethasone sodium phosphate Phase 4
42 Anti-Inflammatory Agents Phase 4
43 Respiratory System Agents Phase 4
44 Anti-Asthmatic Agents Phase 4
45 Hormone Antagonists Phase 4
46 glucocorticoids Phase 4
47
Ipratropium Approved, Experimental Phase 2, Phase 3 60205-81-4, 22254-24-6 43232 657309
48
Atropine Approved, Vet_approved Phase 2, Phase 3 51-55-8, 5908-99-6 174174
49
Glucagon Approved Phase 2, Phase 3 16941-32-5
50
Terlipressin Approved, Investigational Phase 2, Phase 3 14636-12-5 72081

Interventional clinical trials:

(show top 50) (show all 196)
# 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 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 High Versus Low Dose of Caffeine for Apnea of Prematurity: A Double Blind Randomized Control Trial Completed NCT02103777 Phase 3 Caffeine citrate
32 Pentoxifylline Therapy of Late-onset Sepsis in Preterm Infants: A Randomized Controlled Trial. Completed NCT02163174 Phase 3 Pentoxifylline (PTX);Placebo
33 Comparison of Intravenous Ibuprofen vs. Continuous Indomethacin in the Treatment of Patent Ductus Arteriosus Completed NCT00485160 Phase 3 Continuous indomethacin;ibuprofen
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 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
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 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
41 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)
42 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
43 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
44 An Extension Study to Evaluate the Long-term Outcomes of Subjects Who Received Treatment for Retinopathy of Prematurity in Study 20090 Not yet recruiting NCT04015180 Phase 3 Eylea (Aflibercept, BAY86-5321)
45 Nordic Study on Human Milk Fortification in Extremely Preterm Infants: a Randomized Controlled Trial Not yet recruiting NCT03797157 Phase 2, Phase 3
46 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
47 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
48 Safety and Efficacy of Propranolol Treatment in Newborns With Retinopathy of Prematurity:a Prospective Cohort Study Unknown status NCT03038295 Phase 2 Propranolol;placebo
49 TIME TO RE-EVALUATE THE KINDER GENTLER APPROACH TO PATENT DUCTUS ARTERIOSUS (PDA) IN THE PRETERM NEONATE Unknown status NCT02819414 Phase 2 Paracetamol drops
50 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

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 LRP5
2 Retinopathy of Prematurity 29
3 Familial Exudative Vitreoretinopathy, Autosomal Dominant 29

Anatomical Context for Exudative Vitreoretinopathy 1

MalaCards organs/tissues related to Exudative Vitreoretinopathy 1:

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

Publications for Exudative Vitreoretinopathy 1

Articles related to Exudative Vitreoretinopathy 1:

(show top 50) (show all 6154)
# Title Authors PMID Year
1
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 24 61 6 56
15733276 2005
2
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 6 24 56
15981244 2005
3
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 24 56 6
14507768 2003
4
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 56 6 24
12172548 2002
5
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 6 56
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. 56 24
6084219 1984
10
Autosomal dominant exudative vitreoretinopathy. 24 56
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. 61 24
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
Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 24
17093393 2006
43
Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5. 24
16929062 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
LDL receptor-related proteins 5 and 6 in Wnt/beta-catenin signaling: arrows point the way. 24
15084453 2004
50
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. 24
15024691 2004

Variations for Exudative Vitreoretinopathy 1

ClinVar genetic disease variations for Exudative Vitreoretinopathy 1:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FZD4 NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del)deletion Pathogenic 5484 rs80358301 11:86662314-86662319 11:86951272-86951277
2 FZD4 NM_012193.4(FZD4):c.1499_1500CT[1] (p.Leu501fs)short repeat Pathogenic 5485 rs80358303 11:86662296-86662297 11:86951254-86951255
3 FZD4 NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln)SNV Pathogenic 5486 rs80358294 11:86662548-86662548 11:86951506-86951506
4 FZD4 NM_012193.4(FZD4):c.1024A>G (p.Met342Val)SNV Pathogenic 5487 rs80358293 11:86662774-86662774 11:86951732-86951732
5 FZD4 NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys)SNV Pathogenic 5488 rs80358292 11:86662793-86662793 11:86951751-86951751
6 FZD4 NM_012193.4(FZD4):c.766A>G (p.Ile256Val)SNV Pathogenic 5489 rs104894223 11:86663032-86663032 11:86951990-86951990
7 FZD4 NM_012193.4(FZD4):c.313A>G (p.Met105Val)SNV Pathogenic 224624 rs80358284 11:86663485-86663485 11:86952443-86952443
8 CTNNB1 NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs)insertion Pathogenic 225170 rs1057519379 3:41275268-41275269 3:41233777-41233778
9 CTNNB1 NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys)SNV Pathogenic 225171 rs748653573 3:41279558-41279558 3:41238067-41238067
10 CTNNB1 NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter)duplication Pathogenic 225172 rs1057519380 3:41280629-41280644 3:41239138-41239153
11 subset of 15 genes: DLG2 , FZD4 deletion Pathogenic 560087 11:83315294-86755595
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 ZNF408 NM_024741.3(ZNF408):c.402A>G (p.Gln134=)SNV Uncertain significance 183057 rs561320549 11:46724543-46724543 11:46702993-46702993
14 ZNF408 NM_024741.3(ZNF408):c.130C>T (p.Pro44Ser)SNV Uncertain significance 183056 rs796065315 11:46723026-46723026 11:46701476-46701476
15 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val)SNV Uncertain significance 520692 rs201320326 11:68153967-68153967 11:68386499-68386499
16 ZNF408 NM_024741.2(ZNF408):c.-214_-210delGAATCdeletion Uncertain significance 183054 rs796065313 11:46722384-46722388 11:46700834-46700838
17 ZNF408 NM_024741.3(ZNF408):c.694A>G (p.Met232Val)SNV Uncertain significance 183058 rs796065316 11:46725944-46725944 11:46704394-46704394
18 ZNF408 NM_024741.3(ZNF408):c.1850C>A (p.Thr617Asn)SNV Uncertain significance 183059 rs547169524 11:46727100-46727100 11:46705550-46705550
19 ZNF408 NM_024741.3(ZNF408):c.2145G>T (p.Glu715Asp)SNV Uncertain significance 183060 rs796065317 11:46727395-46727395 11:46705845-46705845
20 ZNF408 NM_024741.2(ZNF408):c.-111C>ASNV Uncertain significance 183055 rs796065314 11:46722487-46722487 11:46700937-46700937

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 VEGFA TEK PGF LRP5 KDR IGF1
2
Show member pathways
13.13 VEGFA TEK PGF KDR IGF1 FZD4
3
Show member pathways
12.78 VEGFA PGF KDR IGF1 FLT1 CTNNB1
4 12.7 VEGFA PGF LRP5 IGF1 FZD4 EPO
5 12.64 VEGFA TEK PGF KDR IGF1 FLT1
6
Show member pathways
12.59 VEGFA TEK PGF KDR IGF1 FLT1
7
Show member pathways
12.44 VEGFA TEK PGF KDR IGF1 FZD4
8
Show member pathways
12.39 LRP5 KDR IGF1 FZD4 FLT1
9
Show member pathways
12.28 TEK PGF KDR IGF1 FLT1 CTNNB1
10 12.16 VEGFA KDR IGF1 FZD4 CTNNB1
11 12.09 VEGFA LRP5 FZD4 CTNNB1
12 11.8 VEGFA TEK IGF1 FLT1 EPO
13 11.75 VEGFA TEK FLT1
14 11.72 TEK KDR FLT1
15
Show member pathways
11.62 VEGFA PGF KDR FLT1 CTNNB1
16 11.61 VEGFA KDR FLT1 CTNNB1
17 11.48 TEK LRP5 CTNNB1
18 11.42 VEGFA IGF1 EPO
19 11.36 VEGFA KDR FLT1
20 11.15 VEGFA KDR FLT1 EPO
21 10.91 TEK PGF KDR IGF1 FLT1
22 10.84 VEGFA TEK KDR FLT1
23
Show member pathways
10.13 VEGFA PGF KDR FLT1

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 integral component of plasma membrane GO:0005887 9.91 TSPAN12 TEK KDR FZD4 FLT1 AVPR2
2 extracellular region GO:0005576 9.91 VEGFA TEK PRSS23 PGF NDP KDR
3 receptor complex GO:0043235 9.46 TEK LRP5 KDR FLT1
4 Wnt signalosome GO:1990909 9.32 LRP5 CTNNB1
5 basolateral plasma membrane GO:0016323 9.26 TEK CTNNB1 CD38 ATP7B
6 cell surface GO:0009986 9.1 VEGFA TEK NDP FZD4 EPO CD38

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.05 NDP LRP5 IGF1 FZD4 EPO CTNNB1
2 negative regulation of gene expression GO:0010629 9.95 VEGFA KDR IGF1 CTNNB1
3 positive regulation of cell migration GO:0030335 9.94 VEGFA KDR IGF1 FLT1
4 Wnt signaling pathway GO:0016055 9.92 TSPAN12 NDP LRP5 FZD4 CTNNB1
5 positive regulation of protein phosphorylation GO:0001934 9.91 VEGFA TEK PGF KDR
6 positive regulation of MAPK cascade GO:0043410 9.86 KDR IGF1 FLT1 CTNNB1
7 negative regulation of apoptotic process GO:0043066 9.86 VEGFA TEK KDR IGF1 EPO CTNNB1
8 response to hypoxia GO:0001666 9.85 VEGFA TEK PGF EPO CD38
9 angiogenesis GO:0001525 9.85 VEGFA TSPAN12 TEK PGF KDR FLT1
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.81 VEGFA IGF1 EPO
11 canonical Wnt signaling pathway GO:0060070 9.8 LRP5 FZD4 CTNNB1
12 positive regulation of osteoblast differentiation GO:0045669 9.8 LRP5 IGF1 CTNNB1
13 positive regulation of endothelial cell proliferation GO:0001938 9.8 VEGFA TEK PGF KDR
14 positive regulation of angiogenesis GO:0045766 9.8 VEGFA TEK PGF KDR FLT1
15 positive regulation of endothelial cell migration GO:0010595 9.79 VEGFA TEK KDR
16 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.78 VEGFA PGF KDR FLT1
17 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.75 VEGFA KDR FLT1
18 vasculogenesis GO:0001570 9.73 VEGFA KDR FZD4 CTNNB1
19 positive regulation of focal adhesion assembly GO:0051894 9.72 VEGFA TEK KDR
20 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.72 TEK KDR IGF1 FLT1 EPO
21 positive regulation of mesenchymal cell proliferation GO:0002053 9.71 VEGFA LRP5 CTNNB1
22 induction of positive chemotaxis GO:0050930 9.65 VEGFA PGF
23 positive regulation of positive chemotaxis GO:0050927 9.64 VEGFA KDR
24 retinal blood vessel morphogenesis GO:0061304 9.61 LRP5 FZD4
25 retina vasculature morphogenesis in camera-type eye GO:0061299 9.6 NDP FZD4
26 positive regulation of mast cell chemotaxis GO:0060754 9.59 VEGFA PGF
27 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.58 VEGFA KDR
28 extracellular matrix-cell signaling GO:0035426 9.57 NDP FZD4
29 vascular endothelial growth factor signaling pathway GO:0038084 9.46 VEGFA PGF KDR FLT1
30 sprouting angiogenesis GO:0002040 9.35 VEGFA TEK PGF KDR FLT1
31 positive regulation of cell proliferation GO:0008284 9.32 VEGFA PGF LRP5 KDR IGF1 FLT1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 TEK KDR FLT1
2 vascular endothelial growth factor binding GO:0038085 9.37 KDR FLT1
3 vascular endothelial growth factor-activated receptor activity GO:0005021 9.32 KDR FLT1
4 vascular endothelial growth factor receptor binding GO:0005172 9.16 VEGFA PGF
5 growth factor binding GO:0019838 9.13 TEK KDR FLT1
6 Wnt-activated receptor activity GO:0042813 8.8 TSPAN12 LRP5 FZD4

Sources for Exudative Vitreoretinopathy 1

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