EVR1
MCID: EXD008
MIFTS: 69

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 29 6 72
Retinopathy of Prematurity 57 12 53 59 29 6 44 15 40 17 72 33
Retrolental Fibroplasia 12 75 53 59
Familial Exudative Vitreoretinopathy, Autosomal Dominant 24 29
Criswick-Schepens Syndrome 57 74
Evr1 57 74
Rop 53 59
Exudative Vitreoretinopathy, Familial, Autosomal Dominant 57
Autosomal Dominant Familial Exudative Vitreoretinopathy 74
Vitreoretinopathy, Exudative, Type 1 40
Vitreoretinopathy, Exudative 1 74
Fevr, Autosomal Dominant 57
Premature Retinopathy 12
Adfevr 24
Fevr 74

Characteristics:

Orphanet epidemiological data:

59
retinopathy of prematurity
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
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:

32
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: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:13025
ICD9CM 35 362.20 362.21
MeSH 44 D012178
NCIt 50 C34982
SNOMED-CT 68 74277007
MESH via Orphanet 45 D012178
ICD10 via Orphanet 34 H35.1
UMLS via Orphanet 73 C0035344
Orphanet 59 ORPHA90050
UMLS 72 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)

MalaCards based summary : Exudative Vitreoretinopathy 1, also known as retinopathy of prematurity, is related to exudative vitreoretinopathy and persistent hyperplastic primary vitreous, 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 Focal Adhesion and Ras signaling pathway. The drugs Ranibizumab and Propofol 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 : 74 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 : 75 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 293)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 32.1 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
2 persistent hyperplastic primary vitreous 31.5 TSPAN12 NDP FZD4
3 skin hemangioma 31.3 VEGFA KDR FLT1
4 microvascular complications of diabetes 5 31.3 VEGFA KDR IGF1 FLT1
5 hemangioma 30.9 VEGFA KDR FLT1
6 retinal detachment 30.9 VEGFA TSPAN12 NDP LRP5 FZD4 CTNNB1
7 norrie disease 30.9 TSPAN12 NDP LRP5 FZD4
8 coats disease 30.9 VEGFA TSPAN12 NDP LRP5 KDR FZD4
9 leukocoria 30.7 NDP LRP5 FZD4
10 microvascular complications of diabetes 1 30.5 VEGFA IGF1 FLT1
11 retinal vascular disease 29.9 ZNF408 VEGFA TSPAN12 NDP LRP5 KDR
12 exudative vitreoretinopathy 3 11.6
13 exudative vitreoretinopathy 4 11.5
14 exudative vitreoretinopathy 5 11.5
15 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2
16 exudative vitreoretinopathy 2, x-linked 11.2
17 mental retardation with language impairment and with or without autistic features 11.2
18 microcephaly and chorioretinopathy, autosomal recessive, 1 11.1
19 yemenite deaf-blind hypopigmentation syndrome 11.1
20 myopia 10.9
21 refractive error 10.8
22 strabismus 10.8
23 mechanical strabismus 10.8
24 bronchopulmonary dysplasia 10.7
25 enterocolitis 10.6
26 patent ductus arteriosus 1 10.6
27 perinatal necrotizing enterocolitis 10.6
28 astigmatism 10.6
29 cataract 10.6
30 suppression amblyopia 10.6
31 amblyopia 10.6
32 osteoporosis-pseudoglioma syndrome 10.5 NDP LRP5 FZD4 CTNNB1
33 angiokeratoma circumscriptum 10.5 VEGFA KDR FLT1
34 anoxia 10.5
35 anisometropia 10.5
36 epithelioid hemangioendothelioma 10.5 VEGFA KDR FLT1
37 male reproductive organ cancer 10.5 VEGFA IGF1 CTNNB1
38 capillary hemangioma 10.5 VEGFA KDR FLT1
39 incontinentia pigmenti 10.5
40 neovascular glaucoma 10.5
41 intraocular pressure quantitative trait locus 10.5
42 pre-eclampsia 10.5
43 vascular disease 10.5
44 helix syndrome 10.5
45 vascular cancer 10.5 VEGFA KDR FLT1
46 corneal neovascularization 10.4 VEGFA KDR FLT1
47 pneumonia 10.4
48 placental insufficiency 10.4 VEGFA KDR FLT1
49 retinal disease 10.4
50 reproductive system disease 10.4 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:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
2 small for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001518
3 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
4 retinal arteriolar tortuosity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001136
5 vitreous hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0007902
6 tractional retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0007917
7 abnormal macular morphology 32 occasional (7.5%) HP:0001103
8 reduced visual acuity 32 HP:0007663
9 abnormality of the macula 59 Occasional (29-5%)
10 abnormality of the retinal vasculature 59 Very frequent (99-80%)
11 retinal detachment 32 HP:0000541
12 recurrent fractures 32 HP:0002757
13 exudative vitreoretinopathy 32 HP:0030490
14 subcapsular cataract 32 HP:0000523
15 retinal exudate 32 HP:0001147
16 posterior vitreous detachment 32 HP:0001489
17 falciform retinal fold 32 HP:0001493
18 peripheral retinal avascularization 32 HP:0007685
19 retinal neovascularization 32 HP:0030666

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.3 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
2 cardiovascular system MP:0005385 10.28 CTNNB1 EPO FLT1 FZD4 IGF1 KDR
3 homeostasis/metabolism MP:0005376 10.23 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
4 hematopoietic system MP:0005397 10.22 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
5 embryo MP:0005380 10.16 ARHGAP1 CTNNB1 EPO FLT1 FZD4 KDR
6 endocrine/exocrine gland MP:0005379 10.15 ARHGAP1 ATP7B CD38 CTNNB1 FZD4 IGF1
7 immune system MP:0005387 10.13 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
8 integument MP:0010771 10.1 ARHGAP1 ATP7B CTNNB1 EPO FZD4 IGF1
9 mortality/aging MP:0010768 10.1 ARHGAP1 ATP7B CPVL CTNNB1 EPO FLT1
10 liver/biliary system MP:0005370 9.91 ARHGAP1 ATP7B CTNNB1 EPO KDR LRP5
11 muscle MP:0005369 9.91 ARHGAP1 ATP7B CTNNB1 EPO FLT1 FZD4
12 normal MP:0002873 9.81 CTNNB1 EPO FLT1 FZD4 IGF1 INPP5J
13 pigmentation MP:0001186 9.35 ATP7B CTNNB1 FZD4 LRP5 NDP
14 vision/eye MP:0005391 9.23 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 204)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
4
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
5
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
6
Zinc Approved, Investigational Phase 4 7440-66-6 32051
7
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
8
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
9
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
10 Vitamins Phase 4
11 Mitogens Phase 4
12 Endothelial Growth Factors Phase 4
13 Neuromuscular Blocking Agents Phase 4
14 Hypnotics and Sedatives Phase 4
15 Anesthetics, General Phase 4
16 Platelet Aggregation Inhibitors Phase 4
17 Excitatory Amino Acid Antagonists Phase 4
18 Anesthetics, Dissociative Phase 4
19 Anesthetics, Inhalation Phase 4
20 Excitatory Amino Acids Phase 4
21 Anesthetics, Intravenous Phase 4
22 retinol Phase 4
23 Retinol palmitate Phase 4
24 Lactoferrin Phase 4
25 Micronutrients Phase 4
26 Trace Elements Phase 4
27 Nutrients Phase 4
28 Dermatologic Agents Phase 4
29 Astringents Phase 4
30 Betamethasone Valerate Phase 4 2152-44-5
31 Betamethasone-17,21-dipropionate Phase 4
32 Betamethasone sodium phosphate Phase 4
33 Betamethasone benzoate Phase 4
34 Anti-Inflammatory Agents Phase 4
35 Respiratory System Agents Phase 4
36 Anti-Asthmatic Agents Phase 4
37 Hormones Phase 4
38 Hormone Antagonists Phase 4
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
40 glucocorticoids Phase 4
41
Glucagon Approved Phase 2, Phase 3 16941-32-5
42
Isoproterenol Approved, Investigational Phase 2, Phase 3 7683-59-2 3779
43
Atropine Approved, Vet_approved Phase 2, Phase 3 5908-99-6, 51-55-8 174174
44
Ipratropium Approved, Experimental Phase 2, Phase 3 60205-81-4, 22254-24-6 657309 43232
45
Terlipressin Approved, Investigational Phase 2, Phase 3 14636-12-5 72081
46
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
47
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
48
Progesterone Approved, Vet_approved Phase 2, Phase 3 57-83-0 5994
49
Ampicillin Approved, Vet_approved Phase 3 69-53-4 6249
50
Tropicamide Approved, Investigational Phase 3 1508-75-4 5593

Interventional clinical trials:

(show top 50) (show all 189)
# 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 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
3 Early Bubble CPAP (EBCPAP) in Very Low Birth Weight Infants (VLBWI) Unknown status NCT00368680 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 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)
11 Comparison of Conventional Instillation and Lower Conjunctival Fornix Packing in Mydriasis for Premature Infants Completed NCT00877175 Phase 4 1% tropicamide and 2.5% phenylephrine
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 Impact of Early Postnatal Sodium Supplementation on Weight Gain in Very Low Birth Weight Infants Terminated NCT01795638 Phase 4 Sodium chloride;Placebo
17 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)
18 Antiangiogenic Therapy With Bevacizumab in Retinopathy of Prematurity. Structural Outcome Unknown status NCT00346814 Phase 2, Phase 3 intravitreal injection
19 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
20 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
21 Effect of Cysteine Supplementation on Glutathione Production in Critically Ill Neonates Unknown status NCT00254176 Phase 2, Phase 3
22 Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity Completed NCT01203436 Phase 2, Phase 3
23 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
24 A Randomized Controlled Trial of Two Hemoglobin Thresholds for Transfusion in Newborns <1000g Birth Weight Completed NCT00182390 Phase 3
25 Safety and Efficacy of Treatment With Propranolol in Newborns With Retinopathy of Prematurity: a Pilot Study Completed NCT01079715 Phase 2, Phase 3 Propranolol
26 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
27 The Effects of Light Reduction on Retinopathy of Prematurity (Light-ROP) Completed NCT00000156 Phase 3
28 High Versus Low Dose of Caffeine for Apnea of Prematurity: A Double Blind Randomized Control Trial Completed NCT02103777 Phase 3 Caffeine citrate
29 Pentoxifylline Therapy of Late-onset Sepsis in Preterm Infants: A Randomized Controlled Trial. Completed NCT02163174 Phase 3 Pentoxifylline (PTX);Placebo
30 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
31 Comparison of Intravenous Ibuprofen vs. Continuous Indomethacin in the Treatment of Patent Ductus Arteriosus Completed NCT00485160 Phase 3 Continuous indomethacin;ibuprofen
32 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
33 Inhaled NO in Prevention of Chronic Lung Disease Completed NCT00000548 Phase 3
34 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
35 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%
36 High-dose Ibuprofen for Patent Ductus Arteriosus in Extremely Preterm Infants: a Randomized Controlled Study Completed NCT01243996 Phase 2, Phase 3 Ibuprofen
37 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
38 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
39 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)
40 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) Not yet recruiting NCT04004208 Phase 3 Eylea (Aflibercept, BAY86-5321)
41 Nordic Study on Human Milk Fortification in Extremely Preterm Infants: a Randomized Controlled Trial Not yet recruiting NCT03797157 Phase 2, Phase 3
42 NICU Antibiotics and Outcomes Trial Not yet recruiting NCT03997266 Phase 3 Ampicillin;Gentamycin;Normal saline
43 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
44 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
45 TIME TO RE-EVALUATE THE KINDER GENTLER APPROACH TO PATENT DUCTUS ARTERIOSUS (PDA) IN THE PRETERM NEONATE Unknown status NCT02819414 Phase 2 Paracetamol drops
46 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
47 Minimally Invasive Surfactant Therapy Followed by Early CPAP (MISTCPAP) in Very Preterm Infants With RDS Unknown status NCT01723683 Phase 2 Surfactant
48 Single-Dose Intravenous Inositol Pharmacokinetics in Preterm Infants Completed NCT00349726 Phase 2 Inositol lower volume;Inositol higher volume;Placebo lower volume;Placebo higher volume
49 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
50 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

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 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:

41
Eye, Endothelial, Retina, Lung, Breast, Brain, Bone

Publications for Exudative Vitreoretinopathy 1

Articles related to Exudative Vitreoretinopathy 1:

(show top 50) (show all 6026)
# Title Authors PMID Year
1
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 38 4 8 71
15733276 2005
2
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 4 8 71
15981244 2005
3
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 4 8 71
14507768 2003
4
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 4 8 71
12172548 2002
5
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 8 71
15488808 2004
6
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease. 4 8
21097938 2011
7
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 4 8
20159112 2010
8
Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. 4 8
1985487 1991
9
Retinal vascular pattern in familial exudative vitreoretinopathy. 4 8
6084219 1984
10
Autosomal dominant exudative vitreoretinopathy. 4 8
7362811 1980
11
The rod photoreceptors in retinopathy of prematurity: an electroretinographic study. 38 8
11296015 2001
12
Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. 8
28494495 2017
13
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. 8
25124931 2014
14
Clinical presentation of familial exudative vitreoretinopathy. 8
21868098 2011
15
The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease. 38 4
20688566 2010
16
Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene. 38 4
20008721 2009
17
Familial Exudative Vitreoretinopathy, Autosomal Dominant 71
20301326 2005
18
A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. 38 4
11179025 2001
19
Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. 8
8020986 1994
20
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. 8
1415220 1992
21
The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. 8
1598965 1992
22
Criswick-Schepens syndrome (familial exudative vitreoretinopathy). Study of a Colombian kindred. 8
6487118 1984
23
Autosomal dominant exudative vitreoretinopathy. 8
6626002 1983
24
Falciform retinal fold as sign of familial exudative vitreoretinopathy. 8
6855020 1983
25
Retinal involvement in familial exudative vitreoretinopathy. 8
7133626 1982
26
Pathologic findings in familial exudative vitreoretinopathy. 8
7305712 1981
27
Congenital retinal fold as a sign of dominant exudative vitreoretinopathy. 8
6911005 1981
28
Familial exudative vitreoretinopathy. 8
6906151 1980
29
Familial exudative vitreoretinopathy. 8
434067 1979
30
Flourescein angiography in mild stages of dominant exudative vitreoretinopathy. 8
548734 1979
31
Dominantly inherited peripheral retinal neovascularization. 8
687201 1978
32
Fluorescein angiographic findings in familial exudative vitreoretinopathy. 8
947162 1976
33
Familial exudative vitreoretinopathy. An expanded view. 8
5571414 1971
34
Familial exudative vitreoretinopathy. 8
5394449 1969
35
CONGENITAL RETINAL FOLD. 8
18169329 1935
36
Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. 4
21334594 2011
37
Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy. 4
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. 4
20340138 2010
39
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. 4
20159111 2010
40
TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling. 4
19837033 2009
41
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 4
19324841 2009
42
Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5. 4
16929062 2006
43
Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 4
17093393 2006
44
Comment on 'cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy'. 4
16319824 2006
45
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. 4
16252235 2005
46
Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. 4
15346351 2004
47
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. 4
15223780 2004
48
Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). 4
15370539 2004
49
LDL receptor-related proteins 5 and 6 in Wnt/beta-catenin signaling: arrows point the way. 4
15084453 2004
50
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. 4
15024691 2004

Variations for Exudative Vitreoretinopathy 1

ClinVar genetic disease variations for Exudative Vitreoretinopathy 1:

6 (show all 20)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 subset of 15 genes:DLG2 ; FZD4 deletion Pathogenic 11:83315294-86755595 :0-0
2 FZD4 NM_012193.4(FZD4): c.1499_1500CT[1] (p.Leu501fs) short repeat Pathogenic rs80358303 11:86662296-86662297 11:86951254-86951255
3 FZD4 NM_012193.4(FZD4): c.1479_1484del (p.Met493_Trp494del) deletion Pathogenic rs80358301 11:86662314-86662319 11:86951272-86951277
4 FZD4 NM_012193.4(FZD4): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs80358294 11:86662548-86662548 11:86951506-86951506
5 FZD4 NM_012193.4(FZD4): c.1024A> G (p.Met342Val) single nucleotide variant Pathogenic rs80358293 11:86662774-86662774 11:86951732-86951732
6 FZD4 NM_012193.4(FZD4): c.1005G> C (p.Trp335Cys) single nucleotide variant Pathogenic rs80358292 11:86662793-86662793 11:86951751-86951751
7 FZD4 NM_012193.4(FZD4): c.766A> G (p.Ile256Val) single nucleotide variant Pathogenic rs104894223 11:86663032-86663032 11:86951990-86951990
8 FZD4 NM_012193.4(FZD4): c.313A> G (p.Met105Val) single nucleotide variant Pathogenic rs80358284 11:86663485-86663485 11:86952443-86952443
9 CTNNB1 NM_001904.4(CTNNB1): c.1434_1435insC (p.Glu479fs) insertion Pathogenic rs1057519379 3:41275268-41275269 3:41233777-41233778
10 CTNNB1 NM_001904.4(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 3:41279558-41279558 3:41238067-41238067
11 CTNNB1 NM_001904.4(CTNNB1): c.2142_2157dup (p.His720Ter) duplication Pathogenic rs1057519380 3:41280629-41280644 3:41239138-41239153
12 LRP5 NM_002335.4(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61889560 11:68191036-68191036 11:68423568-68423568
13 LRP5 NM_002335.4(LRP5): c.1199C> T (p.Ala400Val) single nucleotide variant Uncertain significance rs201320326 11:68153967-68153967 11:68386499-68386499
14 ZNF408 NM_024741.3(ZNF408): c.402A> G (p.Gln134=) single nucleotide variant Uncertain significance rs561320549 11:46724543-46724543 11:46702993-46702993
15 ZNF408 NM_024741.3(ZNF408): c.130C> T (p.Pro44Ser) single nucleotide variant Uncertain significance rs796065315 11:46723026-46723026 11:46701476-46701476
16 ZNF408 NM_024741.3(ZNF408): c.1850C> A (p.Thr617Asn) single nucleotide variant Uncertain significance rs547169524 11:46727100-46727100 11:46705550-46705550
17 ZNF408 NM_024741.3(ZNF408): c.2145G> T (p.Glu715Asp) single nucleotide variant Uncertain significance rs796065317 11:46727395-46727395 11:46705845-46705845
18 ZNF408 NM_024741.2(ZNF408): c.-214_-210delGAATC deletion Uncertain significance rs796065313 11:46722384-46722388 11:46700834-46700838
19 ZNF408 NM_024741.2(ZNF408): c.-111C> A single nucleotide variant Uncertain significance rs796065314 11:46722487-46722487 11:46700937-46700937
20 ZNF408 NM_024741.3(ZNF408): c.694A> G (p.Met232Val) single nucleotide variant Uncertain significance rs796065316 11:46725944-46725944 11:46704394-46704394

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

74 (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
12.76 VEGFA KDR IGF1 FLT1 CTNNB1
2
Show member pathways
12.61 VEGFA KDR IGF1 FLT1 CTNNB1
3 12.6 VEGFA LRP5 IGF1 FZD4 EPO CTNNB1
4
Show member pathways
12.53 VEGFA KDR IGF1 FZD4 FLT1 EPO
5
Show member pathways
12.3 LRP5 KDR IGF1 FZD4 FLT1
6
Show member pathways
12.27 VEGFA KDR FLT1 ARHGAP1
7 12.05 VEGFA LRP5 FZD4 CTNNB1
8 11.93 VEGFA KDR FLT1 CTNNB1
9
Show member pathways
11.85 VEGFA KDR FLT1
10 11.83 IGF1 FZD4 CTNNB1
11 11.8 LRP5 FZD4 CTNNB1 ARHGAP1
12 11.71 VEGFA IGF1 FLT1 EPO
13 11.66 VEGFA KDR IGF1 FZD4 CTNNB1
14 11.63 LRP5 CTNNB1 CDKN1C
15 11.59 VEGFA KDR FLT1 CTNNB1
16 11.56 VEGFA IGF1 CDKN1C
17
Show member pathways
11.52 VEGFA KDR FLT1 CTNNB1
18 11.46 LRP5 FZD4 CTNNB1 ARHGAP1
19 11.38 VEGFA IGF1 EPO
20 11.27 VEGFA KDR FLT1
21 10.96 VEGFA KDR FLT1 ARHGAP1
22 10.88 VEGFA KDR FLT1
23 10.46 VEGFA KDR FLT1 EPO

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 cell surface GO:0009986 9.55 VEGFA NDP FZD4 EPO CD38
2 Wnt signalosome GO:1990909 8.96 LRP5 CTNNB1
3 sorting endosome GO:0097443 8.62 KDR ARHGAP1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.91 VEGFA KDR IGF1 CTNNB1
2 angiogenesis GO:0001525 9.89 VEGFA TSPAN12 KDR FLT1
3 positive regulation of cell migration GO:0030335 9.88 VEGFA KDR IGF1 FLT1
4 positive regulation of MAPK cascade GO:0043410 9.8 KDR IGF1 FLT1 CTNNB1
5 Wnt signaling pathway GO:0016055 9.8 TSPAN12 NDP LRP5 FZD4 CTNNB1
6 kidney development GO:0001822 9.79 VEGFA CTNNB1 CDKN1C
7 positive regulation of DNA-binding transcription factor activity GO:0051091 9.79 NDP FZD4 CTNNB1
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.75 KDR IGF1 FLT1
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.74 VEGFA IGF1 EPO
10 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.73 VEGFA KDR FLT1
11 negative regulation of apoptotic process GO:0043066 9.73 VEGFA KDR IGF1 EPO CTNNB1 CD38
12 positive regulation of osteoblast differentiation GO:0045669 9.72 LRP5 IGF1 CTNNB1
13 canonical Wnt signaling pathway GO:0060070 9.67 NDP LRP5 FZD4 CTNNB1
14 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.63 VEGFA FLT1
15 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.63 VEGFA KDR FLT1
16 gastrulation with mouth forming second GO:0001702 9.62 LRP5 CTNNB1
17 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 VEGFA LRP5 CTNNB1
18 positive regulation of positive chemotaxis GO:0050927 9.6 VEGFA KDR
19 positive regulation of transcription, DNA-templated GO:0045893 9.56 NDP LRP5 IGF1 FZD4 EPO CTNNB1
20 retinal blood vessel morphogenesis GO:0061304 9.54 LRP5 FZD4
21 retina vasculature morphogenesis in camera-type eye GO:0061299 9.52 NDP FZD4
22 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.51 VEGFA KDR
23 vascular endothelial growth factor signaling pathway GO:0038084 9.5 VEGFA KDR FLT1
24 extracellular matrix-cell signaling GO:0035426 9.48 NDP FZD4
25 vasculogenesis GO:0001570 9.46 VEGFA KDR FZD4 CTNNB1
26 positive regulation of cell proliferation GO:0008284 9.23 VEGFA LRP5 KDR IGF1 FLT1 EPO

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

# Name GO ID Score Top Affiliating Genes
1 vascular endothelial growth factor-activated receptor activity GO:0005021 8.96 KDR FLT1
2 Wnt-activated receptor activity GO:0042813 8.8 TSPAN12 LRP5 FZD4

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....