MCID: EXD008
MIFTS: 69

Exudative Vitreoretinopathy 1

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

Aliases & Classifications for Exudative Vitreoretinopathy 1

MalaCards integrated aliases for Exudative Vitreoretinopathy 1:

Name: Exudative Vitreoretinopathy 1 57 29 6 73
Retinopathy of Prematurity 57 12 53 59 29 6 44 15 40 73
Retrolental Fibroplasia 12 76 53 59
Familial Exudative Vitreoretinopathy, Autosomal Dominant 24 29
Criswick-Schepens Syndrome 57 75
Evr1 57 75
Rop 53 59
Exudative Vitreoretinopathy, Familial, Autosomal Dominant 57
Autosomal Dominant Familial Exudative Vitreoretinopathy 75
Vitreoretinopathy, Exudative, Type 1 40
Vitreoretinopathy, Exudative 1 75
Fevr, Autosomal Dominant 57
Premature Retinopathy 12
Adfevr 24
Fevr 75

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:
Onset and clinical course infantile onset slow progression
Inheritance autosomal dominant inheritance


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:

OMIM 57 133780
Disease Ontology 12 DOID:13025
ICD9CM 35 362.20 362.21
MeSH 44 D012178
NCIt 50 C34982
Orphanet 59 ORPHA90050
UMLS via Orphanet 74 C0035344
MESH via Orphanet 45 D012178
ICD10 via Orphanet 34 H35.1

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 norrie disease, 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 Pathways in cancer. The drugs Ketorolac and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and retina, and related phenotypes are small for gestational age and premature birth

UniProtKB/Swiss-Prot : 75 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 : 76 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 all 40)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 31.4 ARHGAP1 CTNNB1 FZD4 LRP5 NDP PRSS23
2 norrie disease 30.8 FZD4 LRP5 NDP TSPAN12
3 retinal detachment 30.4 CTNNB1 FZD4 LRP5 NDP TSPAN12 VEGFA
4 coats disease 29.8 FZD4 KDR LRP5 NDP TSPAN12 VEGFA
5 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.9
6 exudative vitreoretinopathy 2, x-linked 10.9
7 exudative vitreoretinopathy 4 10.9
8 exudative vitreoretinopathy 3 10.9
9 exudative vitreoretinopathy 5 10.9
10 microcephaly and chorioretinopathy, autosomal recessive, 1 10.8
11 leukocoria 10.7 FZD4 LRP5 NDP
12 osteoporosis-pseudoglioma syndrome 10.6 CTNNB1 FZD4 LRP5 NDP
13 persistent hyperplastic primary vitreous 10.6 FZD4 NDP TSPAN12
14 angiokeratoma circumscriptum 10.5 FLT1 KDR VEGFA
15 epithelioid hemangioendothelioma 10.5 FLT1 KDR VEGFA
16 acute hemorrhagic leukoencephalitis 10.5 FLT1 KDR VEGFA
17 retinitis 10.5
18 vascular cancer 10.5 FLT1 KDR VEGFA
19 breast carcinoma in situ 10.5 FLT1 KDR VEGFA
20 retinal telangiectasia 10.4 FZD4 NDP TSPAN12 VEGFA
21 corneal neovascularization 10.4 FLT1 KDR VEGFA
22 endotheliitis 10.4
23 placental insufficiency 10.4 FLT1 KDR VEGFA
24 angiosarcoma 10.4 FLT1 KDR VEGFA
25 microvascular complications of diabetes 1 10.3 FLT1 IGF1 VEGFA
26 glomeruloid hemangioma 10.3 FLT1 VEGFA
27 aging 10.3
28 microvascular complications of diabetes 5 10.3 FLT1 IGF1 KDR VEGFA
29 hemangioma 10.3
30 skin hemangioma 10.3
31 adamantinous craniopharyngioma 10.2 CTNNB1 VEGFA
32 myeloma, multiple 10.2 CD38 EPO IGF1 VEGFA
33 strabismus 10.1
34 refractive error 10.1
35 hematologic cancer 10.1 CD38 CDKN1C KDR VEGFA
36 insulin-like growth factor i 10.0
37 choroiditis 10.0
38 retinoblastoma 10.0
39 ewing sarcoma 9.7 FLT1 IGF1 KDR NDP VEGFA
40 retinal vascular disease 9.3 FLT1 FZD4 IGF1 KDR LRP5 NDP

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



Diseases related to Exudative Vitreoretinopathy 1

Symptoms & Phenotypes for Exudative Vitreoretinopathy 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
blindness
vitreous hemorrhage
decreased visual acuity
falciform retinal folds
vitreoretinal traction
more
Skeletal:
low bone density
increased fracture rate


Clinical features from OMIM:

133780

Human phenotypes related to Exudative Vitreoretinopathy 1:

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

UMLS symptoms related to Exudative Vitreoretinopathy 1:


hyperoxia

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 LRP5 IGF1 INPP5J TCAP KDR VEGFA
2 cardiovascular system MP:0005385 10.26 FZD4 LRP5 IGF1 NDP TCAP TSPAN12
3 homeostasis/metabolism MP:0005376 10.21 KDR FZD4 LRP5 IGF1 TCAP VEGFA
4 hematopoietic system MP:0005397 10.2 LRP5 IGF1 KDR VEGFA ZNF408 ATP7B
5 immune system MP:0005387 10.14 LRP5 IGF1 KDR VEGFA ZNF408 ATP7B
6 endocrine/exocrine gland MP:0005379 10.13 FZD4 LRP5 IGF1 INPP5J VEGFA ATP7B
7 embryo MP:0005380 10.1 KDR FZD4 LRP5 VEGFA ARHGAP1 EPO
8 integument MP:0010771 10.02 FZD4 IGF1 INPP5J KDR VEGFA EPO
9 muscle MP:0005369 9.96 IGF1 TCAP KDR VEGFA EPO ATP7B
10 liver/biliary system MP:0005370 9.87 KDR LRP5 VEGFA EPO ATP7B CTNNB1
11 normal MP:0002873 9.81 FZD4 LRP5 IGF1 INPP5J KDR VEGFA
12 pigmentation MP:0001186 9.35 FZD4 LRP5 NDP ATP7B CTNNB1
13 vision/eye MP:0005391 9.23 KDR FZD4 LRP5 NDP TSPAN12 VEGFA

Drugs & Therapeutics for Exudative Vitreoretinopathy 1

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

(show top 50) (show all 256)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4,Phase 2 74103-06-3, 66635-83-4 3826
2
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 216974-75-3
3 Poractant alfa Approved Phase 4,Not Applicable 129069-19-8
4
Progesterone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 57-83-0 5994
5
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15687-27-1 3672
6
Indomethacin Approved, Investigational Phase 4,Phase 3,Phase 2 53-86-1 3715
7
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
8
Nitrous oxide Approved, Vet_approved Phase 4,Phase 3 10024-97-2 948
9
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
10
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
11
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Not Applicable 347396-82-1 459903
12
Caffeine Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 58-08-2 2519
13
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 77-92-9 311
14
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 11103-57-4, 68-26-8 445354
15
Glucosamine Approved, Investigational, Nutraceutical Phase 4 3416-24-8 439213
16 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Ketorolac Tromethamine Phase 4,Phase 2
23 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Pulmonary Surfactants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Anesthetics Phase 4,Phase 2,Phase 3,Not Applicable
26 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
27 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
28 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
32 Anticoagulants Phase 4,Phase 3,Phase 2,Not Applicable
33 Caffeine citrate Phase 4,Phase 3,Phase 2,Not Applicable
34 Calcium, Dietary Phase 4,Phase 3,Phase 2,Not Applicable
35 Central Nervous System Stimulants Phase 4,Phase 3,Phase 2,Not Applicable
36 Chelating Agents Phase 4,Phase 2,Not Applicable
37 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
38 Purinergic P1 Receptor Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
39 Angiogenesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
40 Angiogenesis Modulating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Tocolytic Agents Phase 4,Phase 3,Phase 2
43 Anesthetics, Dissociative Phase 4
44 Anesthetics, General Phase 4,Phase 3
45 Anesthetics, Inhalation Phase 4,Phase 3
46 Anesthetics, Intravenous Phase 4
47 Excitatory Amino Acid Antagonists Phase 4
48 Excitatory Amino Acids Phase 4
49 Hypnotics and Sedatives Phase 4
50 Neuromuscular Blocking Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 259)
# Name Status NCT ID Phase Drugs
1 Efficient Study of ACULAR in Inhibiting Proliferative Retinopathy in Prematurity Unknown status NCT00634972 Phase 4 ACULAR;REFRESH TEARS;placebo
2 Withholding Feeds During Red Blood Cell Transfusion and TRAGI Unknown status NCT02132819 Phase 4
3 Cpap at Delivery Room for Preterm Infants Unknown status NCT01024361 Phase 4
4 Early CPAP in Respiratory Distress Syndrome Unknown status NCT00368680 Phase 4
5 Sucrose Analgesia for the Reduction of Pain During Retinopathy of Prematurity Screening Completed NCT00921544 Phase 4
6 Anesthesia for Retinopathy of Prematurity Completed NCT01955135 Phase 4 Ketamine;Sevoflurane;propofol
7 Vascular Endothelial Growth Factor in Stage V ROP Completed NCT00500396 Phase 4
8 VEGF Levels in Aqueous, Vitreous and Subretinal Fluid in ROP Stage IV and V Completed NCT00563121 Phase 4
9 Vitamin A and Very Low Birthweight Babies (VitAL) Completed NCT00417404 Phase 4 Aquasol A;aquasol A
10 Early Versus Late Lactoferrin in Prevention of Neonatal Sepsis Completed NCT02959229 Phase 4 Lactoferrin;Placebo (for Lactoferrin)
11 MRI and Neurodevelopment in Preterm Infants Following Administration of High-Dose Caffeine Completed NCT00809055 Phase 4 Caffeine citrate
12 VEGF Concentrations After Intravitreal Bevacizumab vs Ranibizumab as a Treatment for Type 1 ROP Recruiting NCT03148132 Phase 4 Bevacizumab Injection;Ranibizumab Ophthalmic
13 OPTIMIST-A Trial: Minimally-invasive Surfactant Therapy in Preterm Infants 25-28 Weeks Gestation on CPAP Recruiting NCT02140580 Phase 4
14 TRAP Intervention STudy: Early Versus Late Intervention for Twin Reversed Arterial Perfusion Sequence Recruiting NCT02621645 Phase 4
15 Rate of Bronchopulmonary Dysplasia in Preterms Neonates: a Trial Comparing SMOFlipid and Medialipide Not yet recruiting NCT02853253 Phase 4
16 Randomized Controlled Trial of Vaginal Progesterone in Women With Threatened Preterm Labor Terminated NCT01286246 Phase 4 Vaginal progesterone;Placebo
17 Comparing Ibuprofen And Indomethacin For The Treatment Of The Patent Ductus Arteriosus in Very Premature Babies Withdrawn NCT00470743 Phase 4 Ibuprofen;Indomethacin
18 Antiangiogenic Therapy With Bevacizumab in Retinopathy of Prematurity. Structural Outcome Unknown status NCT00346814 Phase 2, Phase 3 intravitreal injection
19 The Early Treatment for Retinopathy of Prematurity Study (ETROP) Unknown status NCT00027222 Phase 2, Phase 3
20 L-Thyroxine Supplementation for Preterm Newborns Less Than 32 Weeks of Gestation With Hypothyroxinemia Unknown status NCT01306227 Phase 3 L-Thyroxine;water
21 Randomized Study of Pessary Versus Standard Management in Women With Increased Chance of Premature Birth Unknown status NCT00735137 Phase 3
22 Cysteine Supplementation in Critically Ill Neonates Unknown status NCT00254176 Phase 2, Phase 3
23 Duration of Antibiotics Treatment With Cefazolin and Clarithromycin in Women With Preterm Premature Rupture of Membrane Unknown status NCT01503606 Phase 3 Cefazolin;Clarithromycin;Cefazolin;Clarithromycin
24 Modulation of the Intestinal Flora With the Probiotic VIVOMIXX™ in Pregnant Women at Risk of Metabolic Complications Unknown status NCT02768818 Phase 3
25 A Fatty Acids Study in Preventing Retinopathy of Prematurity Completed NCT02760472 Phase 3 SMOFlipid;Clinoleic
26 RAINBOW Study: RAnibizumab Compared With Laser Therapy for the Treatment of INfants BOrn Prematurely With Retinopathy of Prematurity Completed NCT02375971 Phase 3 Ranibizumab;Ranibizumab
27 Safety and Efficacy of Propranolol in Newborns With Retinopathy of Prematurity Completed NCT01079715 Phase 2, Phase 3 Propranolol
28 Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity Completed NCT01203436 Phase 2, Phase 3
29 The Effects of Light Reduction on Retinopathy of Prematurity (Light-ROP) Completed NCT00000156 Phase 3
30 Inhaled Nitrous Oxide for Pain Relief During Eye Exam in the Pre-term Infant Completed NCT00623220 Phase 3
31 Surfactant Positive Airway Pressure and Pulse Oximetry Trial Completed NCT00233324 Phase 3 Surfactant;Supplemental oxygen with target saturation of 85 to 89%;Supplemental oxygen with target saturation of 91 to 95%
32 Premature Infants in Need of Transfusion (PINT) Completed NCT00182390 Phase 3
33 Antibiotics Study in Preterm Premature Rupture of the Membranes Completed NCT01401179 Phase 3 cefazolin, erythromycin, clarithromycin
34 Pharmacokinetics, Safety and Efficacy Study of Recombinant Antithrombin Versus Placebo in Preterm Preeclampsia Completed NCT02059135 Phase 3
35 Inhaled Nitric Oxide to Prevent and Treat Bronchopulmonary Dysplasia Completed NCT01503801 Phase 2, Phase 3 Nitric Oxide
36 Oxygen Toxicity in the Resuscitation in Extremely Premature Infants Completed NCT00494702 Phase 3
37 High Dose Folic Acid Supplementation Throughout Pregnancy for Preeclampsia Prevention Completed NCT01355159 Phase 3 Folic Acid 4 mg;Placebo
38 17OHP for Reduction of Neonatal Morbidity Due to Preterm Birth (PTB) in Twin and Triplet Pregnancies Completed NCT00163020 Phase 2, Phase 3 17-alpha-hydroxyprogesterone caproate injectable;Placebo
39 NIV Strategies for RDS in Preterm Infants. NIV (Non Invasive Ventilation), RDS (Respiratory Distress Syndrome) Completed NCT02259400 Phase 2, Phase 3
40 Caffeine for Apnea of Prematurity (CAP) Completed NCT00182312 Phase 3 Caffeine citrate injection
41 Fluconazole Prophylaxis for the Prevention of Candidiasis in Infants Less Than 750 Grams Birthweight Completed NCT00734539 Phase 3 fluconazole;placebo
42 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
43 Canadian Oxygen Trial (COT) Completed NCT00637169 Phase 3
44 Trial of Aggressive Versus Conservative Phototherapy in Infants <1,000 Grams Birth Weight Completed NCT00114543 Phase 3
45 Nasal Intermittent Positive Pressure Ventilation in Premature Infants (NIPPV) Completed NCT00433212 Phase 3
46 Pentoxifylline and Late Onset Sepsis in Preterm Infants Completed NCT02163174 Phase 3 Pentoxifylline (PTX);Placebo
47 High Versus Low Dose of Caffeine for Apnea of Prematurity Completed NCT02103777 Phase 3 Caffeine citrate
48 Safety and Efficacy Study of Ibuprofen l-Lysine Solution in Premature Infants for Treatment of PDA Completed NCT00440804 Phase 3 ibuprofen l-lysine iv solution (NeoProfen (R) )
49 Omega-3 Fatty Acid Supplementation to Prevent Preterm Birth in High Risk Pregnancies Completed NCT00135902 Phase 3 17 alpha-Hydroxyprogesterone Caproate and Omega-3 fish oils
50 Trial of Progesterone in Twins and Triplets to Prevent Preterm Birth (STTARS) Completed NCT00099164 Phase 3 17 alpha-hydroxyprogesterone caproate (17P)

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, Lung, Retina, Endothelial, Skin, Breast, Bone

Publications for Exudative Vitreoretinopathy 1

Articles related to Exudative Vitreoretinopathy 1:

(show top 50) (show all 648)
# Title Authors Year
1
Foveal Development in Infants Treated with Bevacizumab or Laser Photocoagulation for Retinopathy of Prematurity. ( 29103792 )
2018
2
Mutation spectrum of <i>NDP</i>, <i>FZD4</i> and <i>TSPAN12</i> genes in Indian patients with retinopathy of prematurity. ( 28982955 )
2018
3
A Pathogenic Relationship of Bronchopulmonary Dysplasia and Retinopathy of Prematurity? A Review of Angiogenic Mediators in Both Diseases. ( 29951473 )
2018
4
SURGICAL MANAGEMENT OF TRACTIONAL RETINOSCHISIS ASSOCIATED WITH VITREOUS HEMORRHAGE IN RETINOPATHY OF PREMATURITY. ( 28092313 )
2017
5
Influence of laser versus lens-sparing vitrectomy on myopia in children with retinopathy of prematurity. ( 28905828 )
2017
6
Pre-eclampsia and the risk of retinopathy of prematurity in preterm infants with birth weight &amp;lt;1500 g and/or &amp;lt;31 weeks' gestation. ( 29354703 )
2017
7
Higher prolactin and vasoinhibin serum levels associated with incidence and progression of retinopathy of prematurity. ( 27842054 )
2017
8
Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort. ( 27018927 )
2016
9
Comparison of Refractive Error Changes in Retinopathy of Prematurity Patients Treated with Diode and Red Lasers. ( 26915028 )
2016
10
Persistence of Retinopathy of Prematurity in an Infant with Tetralogy of Fallot. ( 27525147 )
2016
11
Retinopathy of Prematurity Versus Familial Exudative Vitreoretinopathy: Report on Clinical and Angiographic Findings. ( 26731204 )
2016
12
POSTNATAL SERUM INSULIN-LIKE GROWTH FACTOR I AND RETINOPATHY OF PREMATURITY. ( 27529840 )
2016
13
Aggressive Posterior Retinopathy of Prematurity Is Associated with Multiple Infectious Episodes and Thrombocytopenia. ( 27631399 )
2016
14
Treatment for retinopathy of prematurity in an infant with adenoviral conjunctivitis. ( 25874149 )
2015
15
Intravitreal Anti-VEGF Therapy as a Treatment for Retinopathy of Prematurity: What We Know After 7 Years. ( 25798707 )
2015
16
Incidence and Risk Factors of Retinopathy of Prematurity in Two Neonatal Intensive Care Units in North and South China. ( 25836612 )
2015
17
Correlation of interactions between NOS3 polymorphisms and oxygen therapy with retinopathy of prematurity susceptibility. ( 26823875 )
2015
18
Validated System for Centralized Grading of Retinopathy of Prematurity: Telemedicine Approaches to Evaluating Acute-Phase Retinopathy of Prematurity (e-ROP) Study. ( 25811772 )
2015
19
Spectral-Domain OCT Analyses of Macular Changes After Ranibizumab Therapy for Type 1 Retinopathy of Prematurity. ( 25859685 )
2015
20
Features of retinopathy of prematurity in a tertiary care hospital in Lahore. ( 25842550 )
2015
21
Comparative study of RetCamRetCam II vs. binocular ophthalmoscopy in a screening program for retinopathy of prematurity. ( 25817958 )
2015
22
Treatment of type 1 retinopathy of prematurity withA bevacizumab versus laser. ( 25892041 )
2015
23
Where is the junction of zone 2 and zone 3 temporal retina in RetCam images of acute retinopathy of prematurity? ( 25853398 )
2015
24
Incidence and severity of retinopathy of prematurity in Turkey. ( 25868788 )
2015
25
The long-term outcome of extremely preterm (&amp;lt;28A weeks' gestational age) infants with and without severe retinopathy of prematurity. ( 25809467 )
2015
26
Vascular endothelial growth factor plasma levels before and after treatment of retinopathy of prematurity with ranibizumab. ( 25851862 )
2015
27
Postnatal weight gain in the first two weeks as a predicting factor of severe retinopathy of prematurity requiring treatment. ( 25774196 )
2015
28
Spectral-domain optical coherence tomography of the macula in preterm infants treated with bevacizumab for retinopathy of prematurity. ( 25856817 )
2015
29
Refractive Error in Patients with Retinopathy of Prematurity after Laser Photocoagulation or Bevacizumab Monotherapy. ( 26393895 )
2015
30
SUNDROP: six years of screening for retinopathy of prematurity with telemedicine. ( 25863848 )
2015
31
Reactivation of retinopathy of prematurity after ranibizumab treatment. ( 25768252 )
2015
32
Bilateral Coats' Disease Combined with Retinopathy of Prematurity. ( 26413362 )
2015
33
PLASMA CONCENTRATIONS OF VASCULAR ENDOTHELIAL GROWTH FACTOR IN RETINOPATHY OF PREMATURITY AFTER INTRAVITREAL BEVACIZUMAB INJECTION. ( 25829347 )
2015
34
Investigation of TNF-alpha gene (G308A) and GSTP1 gene (Ilel05Val) polymorphisms in Turkish patients with retinopathy of prematurity. ( 25790547 )
2015
35
Polymorphisms of Vascular Endothelial Growth Factor and Retinopathy of Prematurity. ( 25992764 )
2015
36
Temporal macular dimple in retinopathy of prematurity. ( 25856652 )
2015
37
Intravitreal ranibizumab monotherapy to treat retinopathy of prematurity zone II, stage 3 with plus disease. ( 25886603 )
2015
38
CEACAM1 confers resistance towards oxygen-induced vessel damage in a mouse model of retinopathy of prematurity. ( 25406283 )
2014
39
Retcam shuttle images of developing retinopathy of prematurity. ( 25240009 )
2014
40
Choroidal thickness in regressed retinopathy of prematurity. ( 25277303 )
2014
41
Transient ileus associated with the use of mydriatics after screening for retinopathy of prematurity in a very low birth weight infant. ( 25199159 )
2014
42
The incidence and risk factors of apnea in premature infants underwent general anesthesia for cryotherapy or laser photocoagulation for treatment of retinopathy of prematurity at Queen Sirikit National Institute of Child Health. ( 25391169 )
2014
43
Optical coherence tomography of fovea before and after laser treatment in retinopathy of prematurity. ( 25371634 )
2014
44
Fluorescein angiographic observations of peripheral retinal vessel growth in infants after intravitreal injection of bevacizumab as sole therapy for zone I and posterior zone II retinopathy of prematurity. ( 24403566 )
2014
45
A rare association of intravitreal bevacizumab injection with double ridge formation in retinopathy of prematurity. ( 25333243 )
2014
46
PHTHISIS BULBI AFTER LENSECTOMY IN RETINOPATHY OF PREMATURITY EYES PREVIOUSLY TREATED WITH LASER PHOTOCOAGULATION. ( 25383856 )
2014
47
Long term refractive and structural outcome following laser treatment for zone 1 aggressive posterior retinopathy of prematurity. ( 25378874 )
2014
48
Intravitreal Injection of Bevacizumab for Retinopathy of Prematurity in an Infant with Peters Anomaly. ( 25408672 )
2014
49
Eye disorders in newborn infants (excluding retinopathy of prematurity). ( 25395469 )
2014
50
External subretinal drainage, bevacizumab, and scleral buckling for complete exudative retinal detachment after photocoagulation in retinopathy of prematurity. ( 25372204 )
2014

Variations for Exudative Vitreoretinopathy 1

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

75 (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
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
21 LRP5 p.Asp381Asn VAR_076548
22 LRP5 p.Arg624Trp VAR_076549 rs989864153
23 LRP5 p.Tyr1517Cys VAR_076550 rs201030241

ClinVar genetic disease variations for Exudative Vitreoretinopathy 1:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 FZD4 NM_012193.3(FZD4): c.1479_1484delGTGGAT (p.Met493_Trp494del) deletion Pathogenic rs80358301 GRCh37 Chromosome 11, 86662314: 86662319
2 FZD4 NM_012193.3(FZD4): c.1479_1484delGTGGAT (p.Met493_Trp494del) deletion Pathogenic rs80358301 GRCh38 Chromosome 11, 86951272: 86951277
3 FZD4 NM_012193.3(FZD4): c.1501_1502delCT (p.Leu501Serfs) deletion Pathogenic rs80358303 GRCh37 Chromosome 11, 86662296: 86662297
4 FZD4 NM_012193.3(FZD4): c.1501_1502delCT (p.Leu501Serfs) deletion Pathogenic rs80358303 GRCh38 Chromosome 11, 86951254: 86951255
5 FZD4 NM_012193.3(FZD4): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs80358294 GRCh37 Chromosome 11, 86662548: 86662548
6 FZD4 NM_012193.3(FZD4): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs80358294 GRCh38 Chromosome 11, 86951506: 86951506
7 FZD4 NM_012193.3(FZD4): c.1024A> G (p.Met342Val) single nucleotide variant Pathogenic rs80358293 GRCh37 Chromosome 11, 86662774: 86662774
8 FZD4 NM_012193.3(FZD4): c.1024A> G (p.Met342Val) single nucleotide variant Pathogenic rs80358293 GRCh38 Chromosome 11, 86951732: 86951732
9 FZD4 NM_012193.3(FZD4): c.1005G> C (p.Trp335Cys) single nucleotide variant Pathogenic rs80358292 GRCh37 Chromosome 11, 86662793: 86662793
10 FZD4 NM_012193.3(FZD4): c.1005G> C (p.Trp335Cys) single nucleotide variant Pathogenic rs80358292 GRCh38 Chromosome 11, 86951751: 86951751
11 FZD4 NM_012193.3(FZD4): c.766A> G (p.Ile256Val) single nucleotide variant Pathogenic rs104894223 GRCh37 Chromosome 11, 86663032: 86663032
12 FZD4 NM_012193.3(FZD4): c.766A> G (p.Ile256Val) single nucleotide variant Pathogenic rs104894223 GRCh38 Chromosome 11, 86951990: 86951990
13 ZNF408 NM_024741.2(ZNF408): c.-214_-210delGAATC deletion Uncertain significance rs796065313 GRCh38 Chromosome 11, 46700834: 46700838
14 ZNF408 NM_024741.2(ZNF408): c.-214_-210delGAATC deletion Uncertain significance rs796065313 GRCh37 Chromosome 11, 46722384: 46722388
15 ZNF408 NM_024741.2(ZNF408): c.-111C> A single nucleotide variant Uncertain significance rs796065314 GRCh37 Chromosome 11, 46722487: 46722487
16 ZNF408 NM_024741.2(ZNF408): c.-111C> A single nucleotide variant Uncertain significance rs796065314 GRCh38 Chromosome 11, 46700937: 46700937
17 ZNF408 NM_024741.2(ZNF408): c.130C> T (p.Pro44Ser) single nucleotide variant Uncertain significance rs796065315 GRCh38 Chromosome 11, 46701476: 46701476
18 ZNF408 NM_024741.2(ZNF408): c.130C> T (p.Pro44Ser) single nucleotide variant Uncertain significance rs796065315 GRCh37 Chromosome 11, 46723026: 46723026
19 ZNF408 NM_024741.2(ZNF408): c.402A> G (p.Gln134=) single nucleotide variant Uncertain significance rs561320549 GRCh37 Chromosome 11, 46724543: 46724543
20 ZNF408 NM_024741.2(ZNF408): c.402A> G (p.Gln134=) single nucleotide variant Uncertain significance rs561320549 GRCh38 Chromosome 11, 46702993: 46702993
21 ZNF408 NM_024741.2(ZNF408): c.694A> G (p.Met232Val) single nucleotide variant Uncertain significance rs796065316 GRCh38 Chromosome 11, 46704394: 46704394
22 ZNF408 NM_024741.2(ZNF408): c.694A> G (p.Met232Val) single nucleotide variant Uncertain significance rs796065316 GRCh37 Chromosome 11, 46725944: 46725944
23 ZNF408 NM_024741.2(ZNF408): c.1850C> A (p.Thr617Asn) single nucleotide variant Uncertain significance rs547169524 GRCh38 Chromosome 11, 46705550: 46705550
24 ZNF408 NM_024741.2(ZNF408): c.1850C> A (p.Thr617Asn) single nucleotide variant Uncertain significance rs547169524 GRCh37 Chromosome 11, 46727100: 46727100
25 ZNF408 NM_024741.2(ZNF408): c.2145G> T (p.Glu715Asp) single nucleotide variant Uncertain significance rs796065317 GRCh38 Chromosome 11, 46705845: 46705845
26 ZNF408 NM_024741.2(ZNF408): c.2145G> T (p.Glu715Asp) single nucleotide variant Uncertain significance rs796065317 GRCh37 Chromosome 11, 46727395: 46727395
27 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh38 Chromosome 3, 41233777: 41233778
28 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh37 Chromosome 3, 41275268: 41275269
29 CTNNB1 NM_001904.3(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 GRCh37 Chromosome 3, 41279558: 41279558
30 CTNNB1 NM_001904.3(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 GRCh38 Chromosome 3, 41238067: 41238067
31 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup16 (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh37 Chromosome 3, 41280629: 41280644
32 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup16 (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh38 Chromosome 3, 41239138: 41239153
33 LRP5 NM_002335.3(LRP5): c.185delT (p.Leu62Argfs) deletion Pathogenic GRCh37 Chromosome 11, 68115408: 68115408
34 LRP5 NM_002335.3(LRP5): c.185delT (p.Leu62Argfs) deletion Pathogenic GRCh38 Chromosome 11, 68347940: 68347940

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 CTNNB1 FLT1 IGF1 KDR VEGFA
2 12.63 CTNNB1 EPO FZD4 IGF1 LRP5 VEGFA
3
Show member pathways
12.63 CTNNB1 EPO FLT1 FZD4 IGF1 KDR
4
Show member pathways
12.6 CTNNB1 FLT1 IGF1 KDR VEGFA
5
Show member pathways
12.32 FLT1 FZD4 IGF1 KDR LRP5
6
Show member pathways
12.26 ARHGAP1 FLT1 KDR VEGFA
7 12.04 CTNNB1 FZD4 LRP5 VEGFA
8 11.92 CTNNB1 FLT1 KDR VEGFA
9 11.86 CTNNB1 FZD4 IGF1 KDR VEGFA
10
Show member pathways
11.84 FLT1 KDR VEGFA
11 11.81 CTNNB1 FZD4 IGF1
12 11.71 EPO FLT1 IGF1 VEGFA
13 11.61 CDKN1C CTNNB1 LRP5
14
Show member pathways
11.59 CTNNB1 FLT1 KDR VEGFA
15 11.54 CDKN1C IGF1 VEGFA
16 11.48 ARHGAP1 CTNNB1 FZD4 LRP5
17 11.37 EPO IGF1 VEGFA
18 11.28 FLT1 KDR VEGFA
19 10.92 FLT1 KDR VEGFA
20 10.46 EPO FLT1 KDR VEGFA
21
Show member pathways
10.34 FLT1 KDR VEGFA

GO Terms for Exudative Vitreoretinopathy 1

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.55 CD38 EPO FZD4 NDP VEGFA
2 Wnt signalosome GO:1990909 8.96 CTNNB1 LRP5
3 sorting endosome GO:0097443 8.62 ARHGAP1 KDR

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.95 CD38 EPO FLT1 IGF1 KDR VEGFA
2 angiogenesis GO:0001525 9.88 FLT1 KDR TSPAN12 VEGFA
3 Wnt signaling pathway GO:0016055 9.88 CTNNB1 FZD4 LRP5 NDP
4 positive regulation of cell proliferation GO:0008284 9.87 CTNNB1 EPO FLT1 IGF1 KDR LRP5
5 positive regulation of cell migration GO:0030335 9.85 FLT1 IGF1 KDR VEGFA
6 positive regulation of MAPK cascade GO:0043410 9.81 CTNNB1 FLT1 IGF1 KDR
7 positive regulation of DNA binding transcription factor activity GO:0051091 9.76 CTNNB1 FZD4 LRP5 NDP
8 positive regulation of transcription, DNA-templated GO:0045893 9.76 CD38 CDKN1C CTNNB1 EPO FZD4 IGF1
9 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.74 FLT1 KDR VEGFA
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 FLT1 IGF1 KDR
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.71 EPO IGF1 VEGFA
12 canonical Wnt signaling pathway GO:0060070 9.67 CTNNB1 FZD4 LRP5 NDP
13 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.62 FLT1 VEGFA
14 gastrulation with mouth forming second GO:0001702 9.62 CTNNB1 LRP5
15 cell migration involved in sprouting angiogenesis GO:0002042 9.61 KDR VEGFA
16 cardiac muscle fiber development GO:0048739 9.61 TCAP VEGFA
17 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.61 FLT1 KDR VEGFA
18 positive regulation of positive chemotaxis GO:0050927 9.6 KDR VEGFA
19 vascular endothelial growth factor signaling pathway GO:0038084 9.59 FLT1 KDR
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 CTNNB1 LRP5 VEGFA
21 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.52 KDR VEGFA
22 retinal blood vessel morphogenesis GO:0061304 9.49 FZD4 LRP5
23 retina vasculature morphogenesis in camera-type eye GO:0061299 9.43 FZD4 LRP5 NDP
24 extracellular matrix-cell signaling GO:0035426 9.13 FZD4 LRP5 NDP
25 vasculogenesis GO:0001570 9.02 CTNNB1 FLT1 FZD4 KDR VEGFA

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 FLT1 KDR
2 Wnt-activated receptor activity GO:0042813 8.8 FZD4 LRP5 TSPAN12
3 protein binding GO:0005515 10.09 ARHGAP1 ATP7B CDKN1C CTNNB1 EPO FLT1

Sources for Exudative Vitreoretinopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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