EVR1
MCID: EXD008
MIFTS: 72

Exudative Vitreoretinopathy 1 (EVR1)

Categories: Blood diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Exudative Vitreoretinopathy 1

MalaCards integrated aliases for Exudative Vitreoretinopathy 1:

Name: Exudative Vitreoretinopathy 1 57 11 28 5 43 14 71
Retinopathy of Prematurity 57 11 19 58 28 5 43 14 38 16 71 31 33
Retrolental Fibroplasia 11 19 58 75 33
Evr1 57 11 73
Criswick-Schepens Syndrome 57 73
Rop 19 58
Exudative Vitreoretinopathy, Familial, Autosomal Dominant 57
Autosomal Dominant Familial Exudative Vitreoretinopathy 73
Vitreoretinopathy, Exudative, Type 1 38
Rop - [retinopathy of Prematurity] 33
Vitreoretinopathy, Exudative 1 73
Retinopathy of Prematurity Nos 33
Rlf- [retrolental Fibroplasia] 33
Fevr, Autosomal Dominant 57
Premature Retinopathy 11
Terry Syndrome 33
Fevr 73

Characteristics:


Inheritance:

Autosomal dominant 57

Age Of Onset:

Retinopathy of Prematurity: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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:

30
exudative vitreoretinopathy 1:
Onset and clinical course slowly progressive


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0111412 DOID:13025
OMIM® 57 133780
OMIM Phenotypic Series 57 PS133780
ICD9CM 34 362.21
NCIt 49 C34982
SNOMED-CT 68 155110004
ICD10 31 H35.1
MESH via Orphanet 44 D012178
ICD10 via Orphanet 32 H35.1
UMLS via Orphanet 72 C0035344
Orphanet 58 ORPHA90050
ICD11 33 947283385
UMLS 71 C0035344 C1851402

Summaries for Exudative Vitreoretinopathy 1

OMIM®: 57 Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). In 31 Chinese pedigrees clinically diagnosed with FEVR, Rao et al. (2017) analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene (148760) was identified in a patient who also exhibited microcephaly (MCLMR; 152950). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered. (133780) (Updated 08-Dec-2022)

MalaCards based summary: Exudative Vitreoretinopathy 1, also known as retinopathy of prematurity, is related to exudative vitreoretinopathy and strabismus, 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 Signal Transduction. The drugs Zinc cation and Zinc sulfate have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are premature birth and small for gestational age

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.

Orphanet: 58 A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.

Disease Ontology: 11 An exudative vitreoretinopathy that has material basis in heterozygous mutation in FZD4 on chromosome 11q14.2.

Wikipedia: 75 Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a... more...

Related Diseases for Exudative Vitreoretinopathy 1

Diseases in the Exudative Vitreoretinopathy family:

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

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

(show top 50) (show all 491)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 32.5 ZNF408 VEGFA TSPAN12 PRSS23 NDP LRP5
2 strabismus 32.2 ZNF408 TSPAN12 IGF1 FZD4 CTNNB1 CRYAA
3 patent ductus arteriosus 1 31.8 VEGFA IGF1 EPO
4 pre-eclampsia 31.7 VEGFA PGF KDR IGF1 HIF1A FLT1
5 endophthalmitis 31.6 VEGFA PGF FLT1 CRYAA
6 retinal perforation 31.6 VEGFA PGF CRYAA
7 microvascular complications of diabetes 5 31.5 VEGFA TEK PGF MIR20A KDR IGF1
8 eclampsia 31.5 VEGFA PGF FLT1
9 macular retinal edema 31.4 VEGFA PGF MIR20A KDR FLT1 ANGPT2
10 vitreoretinopathy, neovascular inflammatory 31.3 VEGFA MIR20A CRYAA
11 macular holes 31.3 VEGFA CRYAA ANGPT2
12 cerebral palsy 31.3 IGF1 HIF1A EPO CTNNB1
13 retinal ischemia 31.3 VEGFA PGF KDR HIF1A EPO CRYAA
14 eye disease 31.2 VEGFA TSPAN12 TEK PGF NDP MIR20A
15 hemangioma 31.2 VEGFA TEK KDR HIF1A FLT1 CTNNB1
16 pulmonary hypertension 31.1 VEGFA TEK PGF MIR20A KDR HIF1A
17 macular degeneration, age-related, 1 31.1 VEGFA TEK PGF KDR IGF1 HIF1A
18 neovascular glaucoma 31.0 VEGFA PGF KDR FLT1 EPO CRYAA
19 persistent hyperplastic primary vitreous 31.0 ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
20 coats disease 31.0 ZNF408 VEGFA TSPAN12 PRSS23 NDP LRP5
21 retinal detachment 31.0 ZNF408 VEGFA TSPAN12 NDP LRP5 IGF1
22 vitreoretinopathy 30.9 ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
23 leukocoria 30.8 ZNF408 TSPAN12 NDP LRP5 FZD4 CRYAA
24 capillary hemangioma 30.8 VEGFA TEK KDR HIF1A FLT1
25 microvascular complications of diabetes 1 30.8 VEGFA IGF1 HIF1A FLT1 ANGPT2
26 ischemia 30.7 VEGFA TEK PGF KDR HIF1A FLT1
27 retinal vein occlusion 30.7 VEGFA KDR ANGPT2
28 anemia of prematurity 30.6 VEGFA EPO
29 rubeosis iridis 30.6 VEGFA PGF
30 osteoporosis 30.6 VEGFA NDP LRP5 IGF1 FZD4 EPO
31 hypertension, essential 30.6 VEGFA TEK PPIG PGF LRP5 KDR
32 pulmonary edema 30.6 TEK HIF1A EPO
33 kidney disease 30.6 VEGFA LRP5 IGF1 HIF1A EPO CTNNB1
34 lung cancer susceptibility 3 30.5 VEGFA KDR HIF1A DLX6-AS1 CTNNB1
35 kuhnt-junius degeneration 30.5 VEGFA TEK PGF KDR FLT1 CRYAA
36 fundus dystrophy 30.5 ZNF408 VEGFA TSPAN12 PRSS23 LRP5 IGF1
37 placental insufficiency 30.5 VEGFA TEK PGF KDR HIF1A FLT1
38 osteoporosis-pseudoglioma syndrome 30.5 NDP LRP5 FZD4 CTNNB1
39 norrie disease 30.5 ZNF408 VEGFA TSPAN12 PRSS23 NDP LRP5
40 heart disease 30.4 VEGFA PPIG PGF IGF1 HIF1A FLT1
41 retinitis pigmentosa 30.4 ZNF408 VEGFA TSPAN12 NDP KDR IGF1
42 connective tissue disease 30.3 VEGFA MIR20A KDR IGF1 HIF1A CTNNB1
43 diabetes mellitus 30.3 VEGFA TEK PGF MIR20A LRP5 KDR
44 retinal vascular disease 30.2 ZNF408 VEGFA TSPAN12 TEK PGF NDP
45 polycythemia 30.2 VEGFA HIF1A EPO
46 vasoproliferative tumor of the retina 11.2
47 microcephaly and chorioretinopathy, autosomal recessive, 1 11.2
48 aqueous misdirection 11.2
49 myopia 11.1
50 refractive error 11.0

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 30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature birth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001622
2 small for gestational age 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001518
3 blindness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000618
4 vitreous hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007902
5 retinal arteriolar tortuosity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001136
6 abnormal macular morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001103
7 tractional retinal detachment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007917
8 retinal detachment 30 Very rare (1%) HP:0000541
9 reduced visual acuity 30 Very rare (1%) HP:0007663
10 esotropia 30 Very rare (1%) HP:0000565
11 vitreous floaters 30 Very rare (1%) HP:0100832
12 retinal exudate 30 Very rare (1%) HP:0001147
13 exudative vitreoretinopathy 30 Very rare (1%) HP:0030490
14 peripheral retinal avascularization 30 Very rare (1%) HP:0007685
15 falciform retinal fold 30 Very rare (1%) HP:0001493
16 retinal hole 30 Very rare (1%) HP:0011530
17 ectopic fovea 30 Very rare (1%) HP:0025007
18 abnormal retinal vascular morphology 58 Very frequent (99-80%)
19 recurrent fractures 30 HP:0002757
20 subcapsular cataract 30 HP:0000523
21 posterior vitreous detachment 30 HP:0001489

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
blindness
vitreous hemorrhage
retinal neovascularization
peripheral retinal avascularization
decreased visual acuity
more
Skeletal:
low bone density
increased fracture rate

Clinical features from OMIM®:

133780 (Updated 08-Dec-2022)

UMLS symptoms related to Exudative Vitreoretinopathy 1:


hyperoxia

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

25 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.7 HIF1A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.7 ANGPT2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.7 ANGPT2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.7 CRYAA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.7 ANGPT2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.7 HIF1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.7 CRYAA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.7 ANGPT2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.7 HIF1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.7 HIF1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-175 9.7 ANGPT2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.7 HIF1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.7 HIF1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.7 HIF1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.7 CRYAA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.7 CRYAA HIF1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.7 CTNNB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.7 ANGPT2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.7 ANGPT2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.7 HIF1A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.7 HIF1A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.7 ANGPT2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.7 CRYAA

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.14 CTNNB1 DLX6-AS1 FLT1 FZD4 HIF1A IGF1
2 cardiovascular system MP:0005385 10.13 ANGPT2 CTNNB1 EPO FLT1 FZD4 HIF1A
3 normal MP:0002873 10.09 CTNNB1 FLT1 FZD4 HIF1A IGF1 KDR
4 muscle MP:0005369 10.02 CTNNB1 EPO FLT1 FZD4 HIF1A IGF1
5 embryo MP:0005380 10.02 CTNNB1 EPO FLT1 FZD4 HIF1A KDR
6 vision/eye MP:0005391 9.77 ANGPT2 CRYAA CTNNB1 FLT1 FZD4 HIF1A
7 respiratory system MP:0005388 9.76 ANGPT2 CTNNB1 EPO HIF1A IGF1 KDR
8 integument MP:0010771 9.28 ANGPT2 CTNNB1 FZD4 HIF1A IGF1 KDR

Drugs & Therapeutics for Exudative Vitreoretinopathy 1

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

(show top 50) (show all 159)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc cation Approved, Experimental, Investigational Phase 4 7440-66-6, 23713-49-7 32051
2
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
3
Ketamine Approved, Vet_approved Phase 4 6740-88-1, 1867-66-9 3821
4
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
5
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Cyclopentolate Approved Phase 4 512-15-2 2905
8
Dipivefrin Approved Phase 4 52365-63-6 3105
9
Racephedrine Approved, Experimental Phase 4 299-42-3, 90-82-4, 90-81-3 5032 9294 7028
10
Phenylephrine Approved Phase 4 59-42-7 6041
11
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
12
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
13
Clonidine Approved Phase 4 4205-91-8, 4205-90-7 2803 20179
14
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
15
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8 5280382 445354
16 Dermatologic Agents Phase 4
17 Neuromuscular Blocking Agents Phase 4
18 Excitatory Amino Acid Antagonists Phase 4
19 Platelet Aggregation Inhibitors Phase 4
20 Anesthetics, Intravenous Phase 4
21 Anesthetics, Inhalation Phase 4
22 Anesthetics, General Phase 4
23 Anesthetics, Dissociative Phase 4
24 Hypnotics and Sedatives Phase 4
25 Vitamins Phase 4
26 Trace Elements Phase 4
27 Micronutrients Phase 4
28 Retinol palmitate Phase 4
29 Antioxidants Phase 4
30 Parasympatholytics Phase 4
31 Neurotransmitter Agents Phase 4
32 Adrenergic Agents Phase 4
33 Antihypertensive Agents Phase 4
34 Cardiotonic Agents Phase 4
35 Adrenergic alpha-Agonists Phase 4
36 Adrenergic Agonists Phase 4
37 Vasoconstrictor Agents Phase 4
38 Respiratory System Agents Phase 4
39 Muscarinic Antagonists Phase 4
40 Cholinergic Antagonists Phase 4
41 Sympathomimetics Phase 4
42 Cholinergic Agents Phase 4
43 Protective Agents Phase 4
44 Nasal Decongestants Phase 4
45 Sympatholytics Phase 4
46 Analgesics Phase 4
47 Antirheumatic Agents Phase 4
48
Ketorolac Tromethamine Phase 4
49 Cyclooxygenase Inhibitors Phase 4
50 Anti-Inflammatory Agents, Non-Steroidal Phase 4

Interventional clinical trials:

(show top 50) (show all 139)
# Name Status NCT ID Phase Drugs
1 Oral Zinc Supplementation Improving Growth and Reducing Morbidity on Very Low Birth Weight Infant Unknown status NCT04050488 Phase 4 Zinc Sulfate;Placebos
2 DECREASING THE NEED FOR MECHANICAL VENTILATION AFTER RETINOPATHY OF PREMATURITY SURGERY: Sedation vs General Anesthesia Completed NCT01955135 Phase 4 Ketamine;Sevoflurane;propofol
3 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage V. Completed NCT00500396 Phase 4
4 Does Additional Vitamin A Supplementation Improve Retinal Function and Conjunctival Health in Very Low Birthweight Infants? Completed NCT00417404 Phase 4 Aquasol A;aquasol A
5 Efficacy and Safety of Mydriatic Microdrops Compared With Standard Drops for Retinopathy of Prematurity (ROP) Screening: a Pilot Randomized Clinical Trial Completed NCT04623684 Phase 4 Microdrop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 6-7 μL)];Standard drop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 28-34 μL)]
6 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
7 Sucrose and Non Nutritive Suck as Analgesia for Babies Undergoing Retinopathy of Prematurity Screening; a Randomised Placebo Controlled Trial Completed NCT00921544 Phase 4
8 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
9 Changes in Vital Signs and Pupil Diameter Related to Pharmacologic Mydriasis in Premature Infants: A Randomized Double Blind Clinical Study Completed NCT04838665 Phase 4 0.5% cyclopentolate and 2.5% phenylephrine;0.5% tropicamide + 0.5% phenylephrine;0.5% tropicamide + 0.5% phenylephrine with a cotton wick
10 Efficacy and Safety of Mydriatic Microdrops for Retinopathy Of Prematurity Screening: a Non-inferiority Crossover Randomized Controlled Trial (MyMiROPS Trial) Recruiting NCT05043077 Phase 4 Microdrop administration of phenylephrine 1.67% and tropicamide 0.33%;Standard drop administration of phenylephrine 1.67% and tropicamide 0.33%
11 Clonidine as Pain Relief During ROP Eye Examinations Recruiting NCT04902859 Phase 4 Clonidine Oral Liquid Product;Sterile water
12 Topical Application of ACULAR a Randomized, Vehicle Controlled Clinical Trial: Efficiency in Inhibiting Proliferative Retinopathy of Prematurity Terminated NCT00634972 Phase 4 ACULAR;REFRESH TEARS;placebo
13 Fasudil Eye Drop in Retinopathy Of Prematurity, Retinal Vascularization Induction and Disease Progression Inhibition, a Randomized Clinical Trial Unknown status NCT04191954 Phase 2, Phase 3 Fasudil eye drops (concentration 0.5 percent);receive artificial tears drop
14 The Early Treatment for Retinopathy of Prematurity Study (ETROP) Unknown status NCT00027222 Phase 2, Phase 3
15 Effect of Cysteine Supplementation on Glutathione Production in Critically Ill Neonates Unknown status NCT00254176 Phase 2, Phase 3
16 Antiangiogenic Therapy With Bevacizumab in Retinopathy of Prematurity. Structural Outcome Unknown status NCT00346814 Phase 2, Phase 3 intravitreal injection
17 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
18 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 Completed NCT04101721 Phase 3 aflibercept
19 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
20 Open-label, Randomized, Two-Arm, Controlled Study to Assess the Efficacy, Safety, and Tolerability of Intravitreal (IVT) Aflibercept Compared to Laser Photocoagulation in Patients With Retinopathy of Prematurity (ROP) Completed NCT04004208 Phase 3 Eylea (Aflibercept, BAY86-5321)
21 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
22 Safety and Efficacy of Treatment With Propranolol in Newborns With Retinopathy of Prematurity: a Pilot Study Completed NCT01079715 Phase 2, Phase 3 Propranolol
23 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%
24 The Effects of Light Reduction on Retinopathy of Prematurity (Light-ROP) Completed NCT00000156 Phase 3
25 Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity Completed NCT01203436 Phase 2, Phase 3
26 A Randomized Trial of Low-Dose Bevacizumab Versus Laser for Type 1 Retinopathy of Prematurity Recruiting NCT04634604 Phase 3 Bevacizumab
27 Comparison Between Intravitreal Injection of Ranibizumab and Bevacizumab for Treatment of Type 1 Retinopathy of Prematurity Recruiting NCT05033106 Phase 3 Bevacizumab, Ranibizumab
28 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
29 An Extension Study to Evaluate the Long-term Outcomes of Subjects Who Received Treatment for Retinopathy of Prematurity in Study 20090 Active, not recruiting NCT04015180 Phase 3 Eylea (Aflibercept, BAY86-5321)
30 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
31 Safety and Efficacy of Propranolol Treatment in Newborns With Retinopathy of Prematurity:a Prospective Cohort Study Unknown status NCT03038295 Phase 2 Propranolol;placebo
32 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);Normal saline
33 Intravitreal Bevacizumab (AvastinTM) Injections Versus Conventional Laser Surgery for Vision-threatening Retinopathy of Prematurity: a Prospective, Randomized, Non-blinded, Controlled, Multi-center, Clinical Trial Unknown status NCT00622726 Phase 2 Bevacizumab
34 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
35 Safety and Efficacy of Propranolol Eye Drops in Newborns With Retinopathy of Premature (DROP-PROP) Completed NCT02014454 Phase 2 Propranolol eye drops
36 Synergistic Pharmacologic Intervention for Prevention of ROP (SPIPROP STUDY) Completed NCT02344225 Phase 2 Caffeine citrate;Ibuprofen;Ketorolac
37 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
38 Single-Dose Intravenous Inositol Pharmacokinetics in Preterm Infants Completed NCT00349726 Phase 2 Inositol lower volume;Inositol higher volume;Placebo lower volume;Placebo higher volume
39 Long-term Outcome of Children Enrolled in Study ROPP-2008-01 Previously Treated With rhIGF-1/rhIGFBP-3 for the Prevention of Retinopathy of Prematurity (ROP) or Who Received Standard Neonatal Care Completed NCT02386839 Phase 2 rhIGF-1/rhIGFBP-3
40 Safety and Efficacy of Propranolol 0.2% Eye Drops in Treating Newborn With Retinopathy of Premature: A Pilot Study (DROP-ROP-0.2%) Completed NCT02504944 Phase 2 Propranolol 0.2% eye drops
41 Determination of the rhIGF-1/rhIGFBP-3 Dose, Administered as a Continuous Infusion, Required to Establish and Maintain Longitudinal Serum IGF-1 Levels Within Physiological Levels in Premature Infants, to Prevent Retinopathy of Prematurity A Phase 2, Randomized Controlled, Assessor-blind, Dose Confirming, Pharmacokinetic, Safety and Efficacy, Multicenter Study Completed NCT01096784 Phase 2 rhIGF-I/rhIGFBP-3
42 Omega-3 Long Chain Polyunsaturated Fatty Acid (LCPUFA) Supplementation in Very Low Birth Weight Infants for The Prevention Retinopathy of Prematurity: Proposal for a Prospective Randomized Controlled Masked Clinical Trial With Lipidomic and Transcriptomic Analyses Completed NCT02486042 Phase 2 Omegaven
43 Oral Propranolol Versus Placebo for Early Stages of Retinopathy of Prematurity (ROP): A Pilot, Randomized and Prospective Study. Completed NCT01238471 Phase 1, Phase 2 propranolol;sucrose 5%
44 PhaseI/II Investigator-Initiated Trial to Investigate Safety and Efficacy of Ripasudil in Patients With Retinopathy of Prematurity Recruiting NCT04621136 Phase 1, Phase 2 Ripasudil ophthalmic solution 0.4%
45 Bevacizumab Treatment For Posterior Zone I Retinopathy of Prematurity Recruiting NCT04634578 Phase 2 Bevacizumab
46 Oral Propranolol for Prevention of Threshold Retinopathy of Prematurity Recruiting NCT03083431 Phase 2 Propranolol;Placebo
47 Umbilical or Adult Donor Red Blood Cells to Transfuse Extremely Low Gestational Age Neonates. A Randomized Trial to Assess the Effect on Retinopathy of Prematurity Severity. Recruiting NCT05100212 Phase 2
48 A Phase 2b, Multicenter, Randomized, Open-label, Controlled, 3-Arm Study to Evaluate the Clinical Efficacy and Safety of SHP607 in Preventing Chronic Lung Disease Through 12 Months Corrected Age Compared to Standard Neonatal Care in Extremely Premature Infants Active, not recruiting NCT03253263 Phase 2 SHP607
49 Pan-VEGF Blockade for the Treatment of Retinopathy of Prematurity (BLOCK-ROP) Withdrawn NCT01232777 Phase 2 Bevacizumab
50 Safety and Effectiveness Phase 1 Study of Autologous Umbilical Cord Blood Transfusion for the Prevention and Treatment of Prematurity Complications In Preterm Neonates Unknown status NCT02050971 Phase 1

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 28 FZD4 LRP5
2 Retinopathy of Prematurity 28

Anatomical Context for Exudative Vitreoretinopathy 1

Organs/tissues related to Exudative Vitreoretinopathy 1:

MalaCards : Eye, Retina, Endothelial, Skin, Breast, Lung, Bone

Publications for Exudative Vitreoretinopathy 1

Articles related to Exudative Vitreoretinopathy 1:

(show top 50) (show all 8792)
# Title Authors PMID Year
1
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease. 62 57 5
21097938 2011
2
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 62 57 5
15981244 2005
3
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 62 57 5
15733276 2005
4
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 62 57 5
15488808 2004
5
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 62 57 5
14507768 2003
6
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 62 57 5
12172548 2002
7
Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy. 62 57
31273345 2020
8
Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. 62 57
28494495 2017
9
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. 62 57
25124931 2014
10
Clinical presentation of familial exudative vitreoretinopathy. 62 57
21868098 2011
11
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. 62 5
20340138 2010
12
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 62 57
20159112 2010
13
The rod photoreceptors in retinopathy of prematurity: an electroretinographic study. 62 57
11296015 2001
14
Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. 62 57
8020986 1994
15
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. 62 57
1415220 1992
16
The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. 62 57
1598965 1992
17
Juvenile retinal detachment as a complication of familial exudative vitreoretinopathy. 62 57
2759534 1989
18
Retinal vascular pattern in familial exudative vitreoretinopathy. 62 57
6084219 1984
19
Criswick-Schepens syndrome (familial exudative vitreoretinopathy). Study of a Colombian kindred. 62 57
6487118 1984
20
Falciform retinal fold as sign of familial exudative vitreoretinopathy. 62 57
6855020 1983
21
Fluorescein angiographic findings in familial exudative vitreoretinopathy. 62 57
947162 1976
22
Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. 57
1985487 1991
23
The histopathology of familial exudative vitreoretinopathy. A report of two cases. 57
3977696 1985
24
Autosomal dominant exudative vitreoretinopathy. 57
6626002 1983
25
Retinal involvement in familial exudative vitreoretinopathy. 57
7133626 1982
26
Pathologic findings in familial exudative vitreoretinopathy. 57
7305712 1981
27
Congenital retinal fold as a sign of dominant exudative vitreoretinopathy. 57
6911005 1981
28
Autosomal dominant exudative vitreoretinopathy. 57
7362811 1980
29
Familial exudative vitreoretinopathy. 57
6906151 1980
30
Familial exudative vitreoretinopathy. 57
434067 1979
31
Flourescein angiography in mild stages of dominant exudative vitreoretinopathy. 57
548734 1979
32
Dominantly inherited peripheral retinal neovascularization. 57
687201 1978
33
Familial exudative vitreoretinopathy. An expanded view. 57
5571414 1971
34
Familial exudative vitreoretinopathy. 57
5394449 1969
35
CONGENITAL RETINAL FOLD. 57
18169329 1935
36
Association between postnatal weight gain and need for treatment in retinopathy of prematurity. 62
34157934 2022
37
Peripapillary Retinal Nerve Fiber Layer Thickness in Adults Born Extremely, Very, and Moderately Preterm With and Without Retinopathy of Prematurity: Results From the Gutenberg Prematurity Eye Study (GPES). 62
35932823 2022
38
Short report on retinal vessel metrics and arterial blood pressure in adult individuals born preterm with and without retinopathy of prematurity: results from the Gutenberg Prematurity Eye Study. 62
35338589 2022
39
A Survey of Neonatal Nurses on Mydriatic Regimens Used in Neonatal Retinopathy of Prematurity Eye Examinations. 62
33784771 2022
40
Association Between Retinopathy of Prematurity in Very-Low-Birth-Weight Infants and Neurodevelopmental Impairment. 62
35998681 2022
41
Refractive status, biometric components, and functional outcomes of patients with threshold retinopathy of prematurity: systemic review and a 17-year longitudinal study. 62
35729410 2022
42
Practice Patterns and Outcomes of Intravitreal Anti-VEGF Injection for Retinopathy of Prematurity: An International Multicenter Study. 62
35863512 2022
43
Is thrombocytopenia and postnatal weight gain associated with treatment-requiring retinopathy of prematurity? A matched case-control study. 62
36468823 2022
44
Macular sensitivity assessment and fixation analysis using microperimetry in children with retinopathy of prematurity. 62
34108227 2022
45
A Network Meta-Analysis of Retreatment Rates following Bevacizumab, Ranibizumab, Aflibercept, and Laser for Retinopathy of Prematurity. 62
35842190 2022
46
Effects of less invasive surfactant administration versus intubation-surfactant-extubation on bronchopulmonary dysplasia in preterm infants with respiratory distress syndrome: a single-center, retrospective study from China. 62
36471386 2022
47
Variability in Plus Disease Diagnosis using Single and Serial Images. 62
35659941 2022
48
Retinopathy prematurity: a systematic review and meta-analysis study based on neonatal and maternal risk factors. 62
34256661 2022
49
Predicting outcomes of mechanically ventilated premature infants using respiratory severity score. 62
33280479 2022
50
Lipid peroxidation products as predictors of oxidant-mediated disease in preterm infants. 62
33397176 2022

Variations for Exudative Vitreoretinopathy 1

ClinVar genetic disease variations for Exudative Vitreoretinopathy 1:

5 (show top 50) (show all 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FZD4, PRSS23 NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del) DEL Pathogenic
5484 rs80358301 GRCh37: 11:86662314-86662319
GRCh38: 11:86951272-86951277
2 FZD4, PRSS23 NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln) SNV Pathogenic
5486 rs80358294 GRCh37: 11:86662548-86662548
GRCh38: 11:86951506-86951506
3 FZD4, PRSS23 NM_012193.4(FZD4):c.1024A>G (p.Met342Val) SNV Pathogenic
5487 rs80358293 GRCh37: 11:86662774-86662774
GRCh38: 11:86951732-86951732
4 FZD4, PRSS23 NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys) SNV Pathogenic
5488 rs80358292 GRCh37: 11:86662793-86662793
GRCh38: 11:86951751-86951751
5 CTNNB1 NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) INSERT Pathogenic
225170 rs1057519379 GRCh37: 3:41275268-41275269
GRCh38: 3:41233777-41233778
6 CTNNB1 NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter) DUP Pathogenic
225172 rs1057519380 GRCh37: 3:41280628-41280629
GRCh38: 3:41239137-41239138
7 overlap with 15 genes DEL Pathogenic
560087 GRCh37: 11:83315294-86755595
GRCh38:
8 LRP5 NM_002335.4(LRP5):c.1412+1G>A SNV Pathogenic
929300 rs2098643283 GRCh37: 11:68154181-68154181
GRCh38: 11:68386713-68386713
9 FZD4, PRSS23 NM_012193.4(FZD4):c.766A>G (p.Ile256Val) SNV Pathogenic
Pathogenic
5489 rs104894223 GRCh37: 11:86663032-86663032
GRCh38: 11:86951990-86951990
10 CTNNB1 NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys) SNV Pathogenic
225171 rs748653573 GRCh37: 3:41279558-41279558
GRCh38: 3:41238067-41238067
11 LRP5 NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) SNV Pathogenic
6274 rs121908664 GRCh37: 11:68157417-68157417
GRCh38: 11:68389949-68389949
12 FZD4, PRSS23 NM_012193.4(FZD4):c.1273del (p.Thr425fs) DEL Pathogenic
1706535 GRCh37: 11:86662525-86662525
GRCh38: 11:86951483-86951483
13 FZD4, PRSS23 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic
224624 rs80358284 GRCh37: 11:86663485-86663485
GRCh38: 11:86952443-86952443
14 FZD4, PRSS23 NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) MICROSAT Likely Pathogenic
5485 rs80358303 GRCh37: 11:86662296-86662297
GRCh38: 11:86951254-86951255
15 LRP5 NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) SNV Likely Pathogenic
1179140 GRCh37: 11:68181208-68181208
GRCh38: 11:68413740-68413740
16 FZD4, PRSS23 NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs) MICROSAT Likely Pathogenic
224625 rs80358295 GRCh37: 11:86662513-86662516
GRCh38: 11:86951471-86951474
17 LRP5 NM_002335.4(LRP5):c.2585A>T (p.Asp862Val) SNV Likely Pathogenic
929301 rs2098660903 GRCh37: 11:68181238-68181238
GRCh38: 11:68413770-68413770
18 FZD4, PRSS23 NM_012193.4(FZD4):c.964A>T (p.Ile322Phe) SNV Likely Pathogenic
929302 rs1408259285 GRCh37: 11:86662834-86662834
GRCh38: 11:86951792-86951792
19 FZD4, PRSS23 NM_012193.4(FZD4):c.615del (p.Tyr206fs) DEL Likely Pathogenic
929303 rs1949299271 GRCh37: 11:86663183-86663183
GRCh38: 11:86952141-86952141
20 FZD4, PRSS23 NM_012193.4(FZD4):c.1007G>A (p.Gly336Asp) SNV Uncertain Significance
1333625 GRCh37: 11:86662791-86662791
GRCh38: 11:86951749-86951749
21 FZD4, PRSS23 NM_012193.4(FZD4):c.*798G>C SNV Uncertain Significance
883237 rs940225405 GRCh37: 11:86661386-86661386
GRCh38: 11:86950344-86950344
22 FZD4, PRSS23 NM_012193.4(FZD4):c.*701C>A SNV Uncertain Significance
883238 rs1455077908 GRCh37: 11:86661483-86661483
GRCh38: 11:86950441-86950441
23 FZD4, PRSS23 NM_012193.4(FZD4):c.*3974C>T SNV Uncertain Significance
883898 rs1192461347 GRCh37: 11:86658210-86658210
GRCh38: 11:86947168-86947168
24 FZD4, PRSS23 NM_012193.4(FZD4):c.*3953G>C SNV Uncertain Significance
883899 rs527684830 GRCh37: 11:86658231-86658231
GRCh38: 11:86947189-86947189
25 FZD4, PRSS23 NM_012193.4(FZD4):c.*2182G>A SNV Uncertain Significance
883974 rs776307799 GRCh37: 11:86660002-86660002
GRCh38: 11:86948960-86948960
26 FZD4, PRSS23 NM_012193.4(FZD4):c.*2091A>G SNV Uncertain Significance
883975 rs1949267969 GRCh37: 11:86660093-86660093
GRCh38: 11:86949051-86949051
27 FZD4, PRSS23 NM_012193.4(FZD4):c.*522C>G SNV Uncertain Significance
884040 rs781583469 GRCh37: 11:86661662-86661662
GRCh38: 11:86950620-86950620
28 FZD4, PRSS23 NM_012193.4(FZD4):c.*461G>A SNV Uncertain Significance
884041 rs1949282591 GRCh37: 11:86661723-86661723
GRCh38: 11:86950681-86950681
29 FZD4, PRSS23 NM_012193.4(FZD4):c.*312C>T SNV Uncertain Significance
884042 rs1949284049 GRCh37: 11:86661872-86661872
GRCh38: 11:86950830-86950830
30 FZD4, PRSS23 NM_012193.4(FZD4):c.*173T>G SNV Uncertain Significance
884043 rs528411909 GRCh37: 11:86662011-86662011
GRCh38: 11:86950969-86950969
31 FZD4, PRSS23 NM_012193.4(FZD4):c.718A>G (p.Thr240Ala) SNV Uncertain Significance
930469 rs1949297471 GRCh37: 11:86663080-86663080
GRCh38: 11:86952038-86952038
32 FZD4, PRSS23 NM_012193.4(FZD4):c.461A>G (p.His154Arg) SNV Uncertain Significance
801000 rs1334686841 GRCh37: 11:86663337-86663337
GRCh38: 11:86952295-86952295
33 FZD4, PRSS23 NM_012193.4(FZD4):c.*5256G>A SNV Uncertain Significance
880530 rs1169755179 GRCh37: 11:86656928-86656928
GRCh38: 11:86945886-86945886
34 FZD4, PRSS23 NM_012193.4(FZD4):c.*5168C>G SNV Uncertain Significance
880531 rs1045689207 GRCh37: 11:86657016-86657016
GRCh38: 11:86945974-86945974
35 FZD4, PRSS23 NM_012193.4(FZD4):c.*2150A>C SNV Uncertain Significance
306379 rs759211275 GRCh37: 11:86660034-86660034
GRCh38: 11:86948992-86948992
36 FZD4, PRSS23 NM_012193.4(FZD4):c.*3686C>G SNV Uncertain Significance
880610 rs1024516631 GRCh37: 11:86658498-86658498
GRCh38: 11:86947456-86947456
37 FZD4, PRSS23 NM_012193.4(FZD4):c.*4756G>C SNV Uncertain Significance
881943 rs184796229 GRCh37: 11:86657428-86657428
GRCh38: 11:86946386-86946386
38 FZD4, PRSS23 NM_012193.4(FZD4):c.*3433T>G SNV Uncertain Significance
882026 rs1319823742 GRCh37: 11:86658751-86658751
GRCh38: 11:86947709-86947709
39 FZD4, PRSS23 NM_012193.4(FZD4):c.*3052C>T SNV Uncertain Significance
882027 rs1038082119 GRCh37: 11:86659132-86659132
GRCh38: 11:86948090-86948090
40 FZD4, PRSS23 NM_012193.4(FZD4):c.*1459A>G SNV Uncertain Significance
882094 rs1021341566 GRCh37: 11:86660725-86660725
GRCh38: 11:86949683-86949683
41 FZD4, PRSS23 NM_012193.4(FZD4):c.*1397A>G SNV Uncertain Significance
882095 rs537699768 GRCh37: 11:86660787-86660787
GRCh38: 11:86949745-86949745
42 FZD4, PRSS23 NM_012193.4(FZD4):c.*1252C>T SNV Uncertain Significance
882096 rs1412934981 GRCh37: 11:86660932-86660932
GRCh38: 11:86949890-86949890
43 FZD4 NM_012193.4(FZD4):c.18A>C (p.Ala6=) SNV Uncertain Significance
882394 rs1949325075 GRCh37: 11:86666110-86666110
GRCh38: 11:86955068-86955068
44 FZD4 NM_012193.4(FZD4):c.-250G>A SNV Uncertain Significance
882395 rs899312260 GRCh37: 11:86666377-86666377
GRCh38: 11:86955335-86955335
45 FZD4, PRSS23 NM_012193.4(FZD4):c.*4386T>G SNV Uncertain Significance
883121 rs766058090 GRCh37: 11:86657798-86657798
GRCh38: 11:86946756-86946756
46 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain Significance
183255 rs61889560 GRCh37: 11:68191036-68191036
GRCh38: 11:68423568-68423568
47 FZD4 NM_012193.4(FZD4):c.203G>T (p.Gly68Val) SNV Uncertain Significance
1705329 GRCh37: 11:86665925-86665925
GRCh38: 11:86954883-86954883
48 ZNF408 NM_024741.2(ZNF408):c.-214_-210delGAATC DEL Uncertain Significance
183054 rs796065313 GRCh37: 11:46722382-46722386
GRCh38: 11:46700832-46700836
49 ZNF408 NM_024741.2(ZNF408):c.-111C>A SNV Uncertain Significance
183055 rs796065314 GRCh37: 11:46722487-46722487
GRCh38: 11:46700937-46700937
50 FZD4 NM_012193.4(FZD4):c.84G>C (p.Leu28=) SNV Uncertain Significance
882148 rs1280981405 GRCh37: 11:86666044-86666044
GRCh38: 11:86955002-86955002

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 rs1064794064
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 rs1320065036
21 LRP5 p.Asp381Asn VAR_076548 rs1332274863
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 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 VEGFA TEK PGF LRP5 KDR IGF1
2 13.69 VEGFA TEK PGF LRP5 KDR IGF1
3
Show member pathways
13.51 ANGPT2 EPO FLT1 IGF1 KDR PGF
4
Show member pathways
13.27 TEK PGF KDR IGF1 FLT1 CTNNB1
5
Show member pathways
13.22 CTNNB1 FLT1 FZD4 IGF1 KDR PGF
6 12.76 VEGFA PGF KDR IGF1 HIF1A FLT1
7
Show member pathways
12.59 PGF KDR IGF1 FLT1 EPO
8
Show member pathways
12.42 VEGFA TEK PGF KDR IGF1 HIF1A
9
Show member pathways
12.41 LRP5 IGF1 FZD4 CTNNB1
10
Show member pathways
12.38 VEGFA PGF KDR FLT1
11
Show member pathways
12.35 TEK PGF KDR IGF1 FLT1 CTNNB1
12
Show member pathways
12.26 VEGFA PGF KDR FLT1 CTNNB1
13
Show member pathways
12.17 TEK KDR FZD4 FLT1
14 12.15 VEGFA LRP5 FZD4 CTNNB1
15 12.14 VEGFA PGF KDR IGF1 FLT1 CTNNB1
16 12.13 LRP5 HIF1A FZD4 CTNNB1
17 12.08 ANGPT2 FLT1 KDR TEK
18 12.04 LRP5 KDR FZD4 FLT1
19 11.98 VEGFA TEK PRSS23 PGF LRP5 KDR
20
Show member pathways
11.84 TEK KDR FLT1 CTNNB1
21 11.79 VEGFA KDR HIF1A FLT1
22 11.75 TEK KDR HIF1A FLT1 ANGPT2
23 11.68 VEGFA KDR FLT1 CTNNB1
24 11.66 VEGFA HIF1A EPO
26 11.62 CTNNB1 FLT1 KDR VEGFA
27 11.56 VEGFA TEK KDR
28 11.56 VEGFA HIF1A EPO
29 11.55 FLT1 KDR VEGFA
30 11.49 VEGFA IGF1 EPO
31 11.44 VEGFA KDR CTNNB1
32 11.42 VEGFA KDR FLT1
33 11.33 ANGPT2 EPO HIF1A VEGFA
34 11.21 VEGFA KDR FLT1 EPO
35 11.02 VEGFA PGF HIF1A FLT1
36 10.97 TEK PGF KDR IGF1 FLT1 ANGPT2
37 10.87 VEGFA FLT1
38 10.84 FLT1 HIF1A KDR TEK
39 10.83 VEGFA KDR
40
Show member pathways
10.66 VEGFA PGF KDR FLT1
41
Show member pathways
10.63 VEGFA HIF1A
42 10.56 TEK KDR FLT1
43 10.44 VEGFA KDR
44 10.34 VEGFA KDR

GO Terms for Exudative Vitreoretinopathy 1

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.45 NDP LRP5 IGF1 HIF1A FZD4 EPO
2 positive regulation of cell population proliferation GO:0008284 10.4 VEGFA PGF LRP5 KDR IGF1 FLT1
3 negative regulation of apoptotic process GO:0043066 10.36 CRYAA CTNNB1 EPO HIF1A IGF1 KDR
4 positive regulation of cell migration GO:0030335 10.34 VEGFA KDR IGF1 FZD4 FLT1
5 negative regulation of gene expression GO:0010629 10.29 VEGFA MIR20A KDR IGF1 HIF1A CTNNB1
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.27 VEGFA TEK KDR IGF1 EPO
7 response to hypoxia GO:0001666 10.26 ANGPT2 EPO HIF1A PGF VEGFA
8 positive regulation of DNA-binding transcription factor activity GO:0051091 10.25 NDP LRP5 FZD4 CTNNB1
9 epithelial to mesenchymal transition GO:0001837 10.15 IGF1 HIF1A CTNNB1
10 positive regulation of blood vessel endothelial cell migration GO:0043536 10.14 VEGFA KDR HIF1A
11 positive regulation of MAPK cascade GO:0043410 10.14 VEGFA TEK KDR IGF1 FLT1 CTNNB1
12 positive regulation of osteoblast differentiation GO:0045669 10.11 MIR20A LRP5 IGF1 CTNNB1
13 sprouting angiogenesis GO:0002040 10.1 PGF TEK VEGFA
14 branching involved in blood vessel morphogenesis GO:0001569 10.1 VEGFA KDR CTNNB1
15 positive regulation of neuroblast proliferation GO:0002052 10.09 VEGFA HIF1A CTNNB1
16 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 10.09 FLT1 IGF1 KDR TEK VEGFA
17 outflow tract morphogenesis GO:0003151 10.08 VEGFA MIR20A HIF1A
18 positive regulation of focal adhesion assembly GO:0051894 10.08 VEGFA TEK KDR
19 vasculogenesis GO:0001570 10.08 CTNNB1 FZD4 KDR VEGFA
20 positive regulation of endothelial cell proliferation GO:0001938 10.07 HIF1A KDR PGF TEK VEGFA
21 positive regulation of mesenchymal cell proliferation GO:0002053 10.06 CTNNB1 KDR LRP5
22 vascular endothelial growth factor receptor signaling pathway GO:0048010 10.06 VEGFA PGF KDR FLT1
23 cellular response to vascular endothelial growth factor stimulus GO:0035924 10.02 VEGFA MIR20A KDR FLT1
24 vascular wound healing GO:0061042 9.98 VEGFA KDR
25 positive regulation of mast cell chemotaxis GO:0060754 9.97 VEGFA PGF
26 hemoglobin biosynthetic process GO:0042541 9.97 HIF1A EPO
27 retinal blood vessel morphogenesis GO:0061304 9.97 LRP5 FZD4
28 vascular endothelial growth factor receptor-2 signaling pathway GO:0036324 9.96 KDR VEGFA
29 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.96 KDR VEGFA
30 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.95 HIF1A VEGFA
31 glomerulus vasculature development GO:0072012 9.94 TEK ANGPT2
32 Tie signaling pathway GO:0048014 9.93 TEK ANGPT2
33 blood vessel morphogenesis GO:0048514 9.9 HIF1A FLT1 ANGPT2
34 retina vasculature morphogenesis in camera-type eye GO:0061299 9.89 NDP LRP5 FZD4
35 angiogenesis GO:0001525 9.83 VEGFA TSPAN12 TEK PGF KDR HIF1A
36 extracellular matrix-cell signaling GO:0035426 9.8 NDP LRP5 FZD4
37 vasculature development GO:0001944 9.77 CTNNB1 HIF1A LRP5
38 vascular endothelial growth factor signaling pathway GO:0038084 9.76 FLT1 KDR PGF VEGFA
39 Norrin signaling pathway GO:0110135 9.73 NDP LRP5 FZD4
40 positive regulation of angiogenesis GO:0045766 9.5 VEGFA TEK PGF MIR20A KDR HIF1A

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 9.73 TEK KDR FLT1
2 vascular endothelial growth factor receptor activity GO:0005021 9.46 KDR FLT1
3 vascular endothelial growth factor receptor binding GO:0005172 9.26 VEGFA PGF
4 Wnt receptor activity GO:0042813 9.02 TSPAN12 LRP5 FZD4

Sources for Exudative Vitreoretinopathy 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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