MCID: EXD008
MIFTS: 65

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 53 28 69
Retinopathy of Prematurity 53 12 49 55 28 41 14 69
Retrolental Fibroplasia 12 72 49 55
Familial Exudative Vitreoretinopathy, Autosomal Dominant 23 28
Criswick-Schepens Syndrome 53 71
Evr1 53 71
Rop 49 55
Exudative Vitreoretinopathy, Familial, Autosomal Dominant 53
Autosomal Dominant Familial Exudative Vitreoretinopathy 71
Vitreoretinopathy, Exudative 1 71
Fevr, Autosomal Dominant 53
Premature Retinopathy 12
Adfevr 23
Fevr 71

Characteristics:

Orphanet epidemiological data:

55
retinopathy of prematurity
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
onset in infancy or early childhood
slowly progressive disorder
some patients may be asymptomatic
absence of premature birth, low birthweight, and exposure to oxygen
genetic heterogeneity, see evr2 , evr3 , and evr4


HPO:

31
exudative vitreoretinopathy 1:
Onset and clinical course infantile onset slow progression
Inheritance autosomal dominant inheritance


GeneReviews:

23
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: 55  
Rare eye diseases


External Ids:

OMIM 53 133780
Disease Ontology 12 DOID:13025
ICD9CM 34 362.20 362.21
MeSH 41 D012178
NCIt 46 C34982
Orphanet 55 ORPHA90050
MESH via Orphanet 42 D012178
UMLS via Orphanet 70 C0035344
ICD10 via Orphanet 33 H35.1

Summaries for Exudative Vitreoretinopathy 1

OMIM : 53 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 blindness, retinal arteriolar tortuosity and premature birth. An important gene associated with Exudative Vitreoretinopathy 1 is FZD4 (Frizzled Class Receptor 4), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Ketorolac and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and lung, and related phenotypes are cardiovascular system and cellular

UniProtKB/Swiss-Prot : 71 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 : 72 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 47)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 32.1 CTNNB1 FZD4 LRP5 NDP TSPAN12
2 norrie disease 30.6 FZD4 LRP5 NDP TSPAN12
3 hemangioma 30.6 ANGPT2 KDR TEK VEGFA
4 retinal detachment 30.3 CTNNB1 FZD4 LRP5 NDP TSPAN12 VEGFA
5 exudative vitreoretinopathy 4 11.2
6 exudative vitreoretinopathy 3 11.2
7 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.9
8 exudative vitreoretinopathy 2, x-linked 10.9
9 exudative vitreoretinopathy 5 10.9
10 microcephaly and chorioretinopathy, autosomal recessive, 1 10.8
11 retinitis 10.5
12 endotheliitis 10.4
13 leukocoria 10.4 FZD4 NDP
14 retinal telangiectasia 10.4 FZD4 NDP TSPAN12
15 osteoporosis-pseudoglioma syndrome 10.4 CTNNB1 FZD4 LRP5 NDP
16 angiokeratoma circumscriptum 10.4 FLT1 KDR VEGFA
17 epithelioid hemangioendothelioma 10.3 FLT1 KDR VEGFA
18 poems syndrome 10.3 ANGPT2 EPO VEGFA
19 vascular cancer 10.3 FLT1 KDR VEGFA
20 aging 10.3
21 skin hemangioma 10.3
22 critical limb ischemia 10.3 ANGPT2 TEK VEGFA
23 lipodermatosclerosis 10.3 ANGPT2 FLT1 VEGFA
24 breast carcinoma in situ 10.3 FLT1 KDR VEGFA
25 pyogenic granuloma 10.3 ANGPT2 TEK VEGFA
26 epileptic encephalopathy, childhood-onset 10.3 ANGPT2 KDR VEGFA
27 angiomatous meningioma 10.2 KDR NRP1 VEGFA
28 capillary hemangioma 10.2 FLT1 KDR TEK VEGFA
29 microvascular complications of diabetes 1 10.2 ANGPT2 FLT1 IGF1 VEGFA
30 reproductive organ cancer 10.2 CTNNB1 IGF1 VEGFA
31 coats disease 10.2 FZD4 KDR NDP TSPAN12 VEGFA
32 corneal neovascularization 10.2 FLT1 KDR TEK VEGFA
33 acute hemorrhagic leukoencephalitis 10.2 FLT1 KDR NRP1 VEGFA
34 angiosarcoma 10.2 FLT1 KDR TEK VEGFA
35 limb ischemia 10.2 ANGPT2 KDR TEK VEGFA
36 placenta accreta 10.1 ANGPT2 FLT1 KDR TEK
37 refractive error 10.1
38 glomeruloid hemangioma 10.1 FLT1 VEGFA
39 episodic pain syndrome, familial, 1 10.1
40 renal clear cell carcinoma 10.0 KDR TEK VEGFA
41 placental insufficiency 10.0 ANGPT2 FLT1 KDR TEK VEGFA
42 insulin-like growth factor i 10.0
43 choroiditis 10.0
44 ewing sarcoma 10.0 FLT1 IGF1 KDR NDP VEGFA
45 retinoblastoma 10.0
46 microvascular complications of diabetes 5 9.9 ANGPT2 FLT1 IGF1 KDR TEK VEGFA
47 retinal vascular disease 9.5 ANGPT2 FLT1 FZD4 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:

53
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:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blindness 55 31 occasional (7.5%) Occasional (29-5%) HP:0000618
2 retinal arteriolar tortuosity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001136
3 premature birth 55 31 hallmark (90%) Very frequent (99-80%) HP:0001622
4 small for gestational age 55 31 hallmark (90%) Very frequent (99-80%) HP:0001518
5 tractional retinal detachment 55 31 occasional (7.5%) Occasional (29-5%) HP:0007917
6 vitreous hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0007902
7 reduced visual acuity 31 HP:0007663
8 abnormality of the macula 55 Occasional (29-5%)
9 abnormality of the retinal vasculature 55 Very frequent (99-80%)
10 retinal detachment 31 HP:0000541
11 recurrent fractures 31 HP:0002757
12 subcapsular cataract 31 HP:0000523
13 retinal exudate 31 HP:0001147
14 peripheral retinal avascularization 31 HP:0007685
15 retinal neovascularization 31 HP:0030666
16 falciform retinal fold 31 HP:0001493
17 posterior vitreous detachment 31 HP:0001489
18 exudative vitreoretinopathy 31 HP:0030490
19 abnormal macular morphology 31 occasional (7.5%) HP:0001103

UMLS symptoms related to Exudative Vitreoretinopathy 1:


hyperoxia

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.41 NDP NRP1 KDR FZD4 LRP5 IGF1
2 cellular MP:0005384 10.37 LRP5 IGF1 INPP5J KDR FZD4 TCAP
3 homeostasis/metabolism MP:0005376 10.29 LRP5 IGF1 KDR FZD4 TCAP TEK
4 mortality/aging MP:0010768 10.25 LRP5 IGF1 KDR FZD4 TEK NRP1
5 hematopoietic system MP:0005397 10.24 LRP5 IGF1 FLT1 KDR TEK NRP1
6 embryo MP:0005380 10.21 LRP5 KDR FZD4 TEK NRP1 VEGFA
7 immune system MP:0005387 10.2 LRP5 IGF1 FLT1 KDR NRP1 VEGFA
8 muscle MP:0005369 10.11 IGF1 KDR FZD4 TCAP TEK NRP1
9 nervous system MP:0003631 10.1 LRP5 IGF1 NDP KDR FZD4 TEK
10 integument MP:0010771 10.09 IGF1 INPP5J KDR FZD4 VEGFA ATP7B
11 normal MP:0002873 9.96 LRP5 IGF1 INPP5J KDR FZD4 TEK
12 pigmentation MP:0001186 9.55 LRP5 NDP FZD4 ATP7B CTNNB1
13 respiratory system MP:0005388 9.5 IGF1 KDR VEGFA SERPINH1 EPO CTNNB1
14 vision/eye MP:0005391 9.36 NDP KDR FZD4 LRP5 TEK TSPAN12

Drugs & Therapeutics for Exudative Vitreoretinopathy 1

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

(show top 50) (show all 229)
# 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
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
5
Nitrous oxide Approved, Vet_approved Phase 4,Phase 3 10024-97-2 948
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
8
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Not Applicable 347396-82-1 459903
9
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15687-27-1 3672
10
Indomethacin Approved, Investigational Phase 4,Phase 3 53-86-1 3715
11
Caffeine Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 58-08-2 2519
12
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 77-92-9 311
13
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 68-26-8, 11103-57-4 445354
14 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Ketorolac Tromethamine Phase 4,Phase 2
21 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Pulmonary Surfactants Phase 4,Phase 3,Phase 2,Not Applicable
23 Anesthetics Phase 4,Phase 2,Phase 3,Not Applicable
24 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
25 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable
27 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable
28 Anticoagulants Phase 4,Phase 2,Not Applicable
29 Caffeine citrate Phase 4,Phase 3,Phase 2,Not Applicable
30 Calcium, Dietary Phase 4,Phase 3,Phase 2,Not Applicable
31 Central Nervous System Stimulants Phase 4,Phase 3,Phase 2,Not Applicable
32 Chelating Agents Phase 4,Phase 2,Not Applicable
33 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
34 Purinergic P1 Receptor Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
35 Angiogenesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Angiogenesis Modulating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Anesthetics, Dissociative Phase 4
39 Anesthetics, General Phase 4,Phase 3
40 Anesthetics, Inhalation Phase 4,Phase 3
41 Anesthetics, Intravenous Phase 4
42 Excitatory Amino Acid Antagonists Phase 4
43 Excitatory Amino Acids Phase 4
44 Hypnotics and Sedatives Phase 4
45 Neuromuscular Blocking Agents Phase 4
46 Platelet Aggregation Inhibitors Phase 4,Phase 3
47 Endothelial Growth Factors Phase 4,Phase 1,Phase 2,Not Applicable
48 Mitogens Phase 4,Phase 1,Phase 2,Not Applicable
49 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
50 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 204)

# 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 Comparing Ibuprofen And Indomethacin For The Treatment Of The Patent Ductus Arteriosus in Very Premature Babies Withdrawn NCT00470743 Phase 4 Ibuprofen;Indomethacin
15 Antiangiogenic Therapy With Bevacizumab in Retinopathy of Prematurity. Structural Outcome Unknown status NCT00346814 Phase 2, Phase 3 intravitreal injection
16 The Early Treatment for Retinopathy of Prematurity Study (ETROP) Unknown status NCT00027222 Phase 2, Phase 3
17 Randomized Study of Pessary Versus Standard Management in Women With Increased Chance of Premature Birth Unknown status NCT00735137 Phase 3
18 Cysteine Supplementation in Critically Ill Neonates Unknown status NCT00254176 Phase 2, Phase 3
19 A Fatty Acids Study in Preventing Retinopathy of Prematurity Completed NCT02760472 Phase 3 SMOFlipid;Clinoleic
20 RAINBOW Study: RAnibizumab Compared With Laser Therapy for the Treatment of INfants BOrn Prematurely With Retinopathy of Prematurity Completed NCT02375971 Phase 3 Ranibizumab;Ranibizumab
21 Safety and Efficacy of Propranolol in Newborns With Retinopathy of Prematurity Completed NCT01079715 Phase 2, Phase 3 Propranolol
22 Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity Completed NCT01203436 Phase 2, Phase 3
23 The Effects of Light Reduction on Retinopathy of Prematurity (Light-ROP) Completed NCT00000156 Phase 3
24 Inhaled Nitrous Oxide for Pain Relief During Eye Exam in the Pre-term Infant Completed NCT00623220 Phase 3
25 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%
26 Premature Infants in Need of Transfusion (PINT) Completed NCT00182390 Phase 3
27 Inhaled Nitric Oxide to Prevent and Treat Bronchopulmonary Dysplasia Completed NCT01503801 Phase 2, Phase 3 Nitric Oxide
28 Oxygen Toxicity in the Resuscitation in Extremely Premature Infants Completed NCT00494702 Phase 3
29 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
30 Caffeine for Apnea of Prematurity (CAP) Completed NCT00182312 Phase 3 Caffeine citrate injection
31 NIV Strategies for RDS in Preterm Infants. NIV (Non Invasive Ventilation), RDS (Respiratory Distress Syndrome) Completed NCT02259400 Phase 2, Phase 3
32 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
33 Fluconazole Prophylaxis for the Prevention of Candidiasis in Infants Less Than 750 Grams Birthweight Completed NCT00734539 Phase 3 fluconazole;placebo
34 Canadian Oxygen Trial (COT) Completed NCT00637169 Phase 3
35 Trial of Aggressive Versus Conservative Phototherapy in Infants <1,000 Grams Birth Weight Completed NCT00114543 Phase 3
36 Nasal Intermittent Positive Pressure Ventilation in Premature Infants (NIPPV) Completed NCT00433212 Phase 3
37 Pentoxifylline and Late Onset Sepsis in Preterm Infants Completed NCT02163174 Phase 3 Pentoxifylline (PTX);Placebo
38 High Versus Low Dose of Caffeine for Apnea of Prematurity Completed NCT02103777 Phase 3 Caffeine citrate
39 High Dose Folic Acid Supplementation Throughout Pregnancy for Preeclampsia Prevention Completed NCT01355159 Phase 3 Folic Acid 4 mg;Placebo
40 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) )
41 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
42 Trial of Progesterone in Twins and Triplets to Prevent Preterm Birth (STTARS) Completed NCT00099164 Phase 3 17 alpha-hydroxyprogesterone caproate (17P)
43 Rainbow Extension Study Recruiting NCT02640664 Phase 3 Ranibizumab;Ranibizumab
44 Sildenafil Therapy In Dismal Prognosis Early-Onset Intrauterine Growth Restriction Recruiting NCT02442492 Phase 2, Phase 3 Sildenafil;Placebo
45 Dose Reduction of Antenatal Betamethasone Given to Prevent the Neonatal Complications Associated With Very Preterm Birth Recruiting NCT02897076 Phase 3 betamethasone 24 mg;12mg betamethasone +placebo
46 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Recruiting NCT01376778 Phase 3 CMV hyperimmune globulin
47 Maternal Omega-3 Supplementation to Reduce Bronchopulmonary Dysplasia Recruiting NCT02371460 Phase 3
48 Darbepoetin Trial to Improve Red Cell Mass and Neuroprotection in Preterm Infants Recruiting NCT03169881 Phase 3 Darbepoetin;Placebo
49 Comparison of Two Flow Rates of HHHFNC to Prevent Extubation Failure in Preterm Infants Recruiting NCT02681315 Phase 3
50 L-Thyroxine Supplementation for Preterm Newborns Less Than 32 Weeks of Gestation With Hypothyroxinemia Active, not recruiting NCT01306227 Phase 3 L-Thyroxine;water

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
3 Familial Exudative Vitreoretinopathy, Autosomal Dominant 28

Anatomical Context for Exudative Vitreoretinopathy 1

MalaCards organs/tissues related to Exudative Vitreoretinopathy 1:

38
Retina, Eye, Lung, Bone

Publications for Exudative Vitreoretinopathy 1

Articles related to Exudative Vitreoretinopathy 1:

(show top 50) (show all 638)
# Title Authors Year
1
Influence of laser versus lens-sparing vitrectomy on myopia in children with retinopathy of prematurity. ( 28905828 )
2017
2
Higher prolactin and vasoinhibin serum levels associated with incidence and progression of retinopathy of prematurity. ( 27842054 )
2017
3
SURGICAL MANAGEMENT OF TRACTIONAL RETINOSCHISIS ASSOCIATED WITH VITREOUS HEMORRHAGE IN RETINOPATHY OF PREMATURITY. ( 28092313 )
2017
4
Pre-eclampsia and the risk of retinopathy of prematurity in preterm infants with birth weight <1500 g and/or <31 weeks' gestation. ( 29354703 )
2017
5
Comparison of Refractive Error Changes in Retinopathy of Prematurity Patients Treated with Diode and Red Lasers. ( 26915028 )
2016
6
Aggressive Posterior Retinopathy of Prematurity Is Associated with Multiple Infectious Episodes and Thrombocytopenia. ( 27631399 )
2016
7
Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort. ( 27018927 )
2016
8
POSTNATAL SERUM INSULIN-LIKE GROWTH FACTOR I AND RETINOPATHY OF PREMATURITY. ( 27529840 )
2016
9
Persistence of Retinopathy of Prematurity in an Infant with Tetralogy of Fallot. ( 27525147 )
2016
10
Retinopathy of Prematurity Versus Familial Exudative Vitreoretinopathy: Report on Clinical and Angiographic Findings. ( 26731204 )
2016
11
Treatment of type 1 retinopathy of prematurity withA bevacizumab versus laser. ( 25892041 )
2015
12
SUNDROP: six years of screening for retinopathy of prematurity with telemedicine. ( 25863848 )
2015
13
PLASMA CONCENTRATIONS OF VASCULAR ENDOTHELIAL GROWTH FACTOR IN RETINOPATHY OF PREMATURITY AFTER INTRAVITREAL BEVACIZUMAB INJECTION. ( 25829347 )
2015
14
Vascular endothelial growth factor plasma levels before and after treatment of retinopathy of prematurity with ranibizumab. ( 25851862 )
2015
15
Incidence and Risk Factors of Retinopathy of Prematurity in Two Neonatal Intensive Care Units in North and South China. ( 25836612 )
2015
16
Where is the junction of zone 2 and zone 3 temporal retina in RetCam images of acute retinopathy of prematurity? ( 25853398 )
2015
17
Treatment for retinopathy of prematurity in an infant with adenoviral conjunctivitis. ( 25874149 )
2015
18
Bilateral Coats' Disease Combined with Retinopathy of Prematurity. ( 26413362 )
2015
19
Investigation of TNF-alpha gene (G308A) and GSTP1 gene (Ilel05Val) polymorphisms in Turkish patients with retinopathy of prematurity. ( 25790547 )
2015
20
Correlation of interactions between NOS3 polymorphisms and oxygen therapy with retinopathy of prematurity susceptibility. ( 26823875 )
2015
21
Temporal macular dimple in retinopathy of prematurity. ( 25856652 )
2015
22
Features of retinopathy of prematurity in a tertiary care hospital in Lahore. ( 25842550 )
2015
23
Spectral-domain optical coherence tomography of the macula in preterm infants treated with bevacizumab for retinopathy of prematurity. ( 25856817 )
2015
24
Intravitreal ranibizumab monotherapy to treat retinopathy of prematurity zone II, stage 3 with plus disease. ( 25886603 )
2015
25
Polymorphisms of Vascular Endothelial Growth Factor and Retinopathy of Prematurity. ( 25992764 )
2015
26
Comparative study of RetCamRetCam II vs. binocular ophthalmoscopy in a screening program for retinopathy of prematurity. ( 25817958 )
2015
27
Validated System for Centralized Grading of Retinopathy of Prematurity: Telemedicine Approaches to Evaluating Acute-Phase Retinopathy of Prematurity (e-ROP) Study. ( 25811772 )
2015
28
Intravitreal Anti-VEGF Therapy as a Treatment for Retinopathy of Prematurity: What We Know After 7 Years. ( 25798707 )
2015
29
Spectral-Domain OCT Analyses of Macular Changes After Ranibizumab Therapy for Type 1 Retinopathy of Prematurity. ( 25859685 )
2015
30
Refractive Error in Patients with Retinopathy of Prematurity after Laser Photocoagulation or Bevacizumab Monotherapy. ( 26393895 )
2015
31
The long-term outcome of extremely preterm (<28A weeks' gestational age) infants with and without severe retinopathy of prematurity. ( 25809467 )
2015
32
Reactivation of retinopathy of prematurity after ranibizumab treatment. ( 25768252 )
2015
33
Postnatal weight gain in the first two weeks as a predicting factor of severe retinopathy of prematurity requiring treatment. ( 25774196 )
2015
34
Incidence and severity of retinopathy of prematurity in Turkey. ( 25868788 )
2015
35
Transient ileus associated with the use of mydriatics after screening for retinopathy of prematurity in a very low birth weight infant. ( 25199159 )
2014
36
Twin-twin transfusion syndrome as a possible risk factor for the development of retinopathy of prematurity. ( 25303884 )
2014
37
Long term refractive and structural outcome following laser treatment for zone 1 aggressive posterior retinopathy of prematurity. ( 25378874 )
2014
38
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
39
Combined intravitreal bevacizumab injection and zone I sparing laser photocoagulation in patients with zone I retinopathy of prematurity. ( 23807184 )
2014
40
Bevacizumab versus diode laser in stage 3 posterior retinopathy of prematurity. ( 24428792 )
2014
41
Noncontact high-resolution ultra-wide-field oral fluorescein angiography in premature infants with retinopathy of prematurity. ( 24201455 )
2014
42
Corrected VEGF levels based on platelet count should be calculated. Concerning the article by B.m. Levesque et Al.: low urine vascular endothelial growth factor levels are associated with mechanical ventilation, bronchopulmonary dysplasia and retinopathy of prematurity [neonatology 2013;104:56-64]. ( 24216600 )
2014
43
The pathophysiology of retinopathy of prematurity: an update of previous and recent knowledge. ( 23617889 )
2014
44
Retinal vessel pathologies in a rat model of periventricular leukomalacia: a new model for retinopathy of prematurity? ( 25698709 )
2014
45
Genetic variants associated with severe retinopathy of prematurity in extremely low birth weight infants. ( 25118269 )
2014
46
Low birth weight is a risk factor for severe retinopathy of prematurity depending on gestational age. ( 25330287 )
2014
47
Choroidal thickness in regressed retinopathy of prematurity. ( 25277303 )
2014
48
Effect of laser photocoagulation on plasma levels of VEGF-A, VEGFR-2, and Tie2 in infants with retinopathy of prematurity. ( 25266828 )
2014
49
PHTHISIS BULBI AFTER LENSECTOMY IN RETINOPATHY OF PREMATURITY EYES PREVIOUSLY TREATED WITH LASER PHOTOCOAGULATION. ( 25383856 )
2014
50
One-year clinical outcome after laser treatment for retinopathy of prematurity at a tertiary center in Turkey. ( 25381161 )
2014

Variations for Exudative Vitreoretinopathy 1

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

71 (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
# 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.1501_1502delCT (p.Leu501Serfs) deletion Pathogenic rs80358303 GRCh37 Chromosome 11, 86662296: 86662297
3 FZD4 NM_012193.3(FZD4): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs80358294 GRCh37 Chromosome 11, 86662548: 86662548
4 FZD4 NM_012193.3(FZD4): c.1024A> G (p.Met342Val) single nucleotide variant Pathogenic rs80358293 GRCh37 Chromosome 11, 86662774: 86662774
5 FZD4 NM_012193.3(FZD4): c.1005G> C (p.Trp335Cys) single nucleotide variant Pathogenic rs80358292 GRCh37 Chromosome 11, 86662793: 86662793
6 FZD4 NM_012193.3(FZD4): c.766A> G (p.Ile256Val) single nucleotide variant Pathogenic rs104894223 GRCh37 Chromosome 11, 86663032: 86663032
7 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh38 Chromosome 3, 41233777: 41233778
8 CTNNB1 NM_001904.3(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 GRCh37 Chromosome 3, 41279558: 41279558
9 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup16 (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh37 Chromosome 3, 41280629: 41280644

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 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 ANGPT2 CTNNB1 FLT1 FZD4 IGF1 KDR
2
Show member pathways
13.23 ANGPT2 CTNNB1 FLT1 IGF1 KDR NRP1
3
Show member pathways
13.21 CTNNB1 FLT1 FZD4 IGF1 KDR TEK
4 12.71 CTNNB1 EPO FZD4 IGF1 LRP5 VEGFA
5 12.63 ANGPT2 FLT1 IGF1 KDR TEK VEGFA
6
Show member pathways
12.55 ANGPT2 CTNNB1 FLT1 IGF1 KDR TEK
7
Show member pathways
12.43 ANGPT2 CTNNB1 EPO FLT1 FZD4 IGF1
8
Show member pathways
12.38 FLT1 FZD4 IGF1 KDR LRP5
9
Show member pathways
12.32 CTNNB1 KDR NRP1 VEGFA
10
Show member pathways
12.29 FLT1 KDR NRP1 VEGFA
11
Show member pathways
12.16 FLT1 KDR NRP1 VEGFA
12 12.16 CTNNB1 FZD4 IGF1 KDR VEGFA
13
Show member pathways
12.13 FLT1 FZD4 KDR TEK
14 12.1 CTNNB1 FZD4 LRP5 VEGFA
15 12.02 ANGPT2 FLT1 KDR TEK
16 11.98 CTNNB1 FLT1 KDR VEGFA
17 11.77 FLT1 TEK VEGFA
18 11.72 ANGPT2 FLT1 KDR TEK
19 11.67 CDKN1C CTNNB1 LRP5
20
Show member pathways
11.62 CTNNB1 FLT1 KDR NRP1 VEGFA
21 11.52 CDKN1C IGF1 SERPINH1 VEGFA
22 11.49 CTNNB1 LRP5 TEK
23 11.43 EPO IGF1 VEGFA
24 11.35 FLT1 KDR VEGFA
25 11.28 ANGPT2 EPO VEGFA
26 11.15 EPO FLT1 KDR VEGFA
27 11.1 ANGPT2 EPO FLT1 IGF1 TEK VEGFA
28 10.94 ANGPT2 FLT1 IGF1 KDR TEK
29 10.84 FLT1 KDR TEK VEGFA
30
Show member pathways
10.81 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 extracellular region GO:0005576 9.97 ANGPT2 EPO FLT1 IGF1 KDR NDP
2 extracellular space GO:0005615 9.86 ANGPT2 EPO FLT1 IGF1 NDP NRP1
3 cell surface GO:0009986 9.17 CD38 EPO FZD4 NDP NRP1 TEK
4 Wnt signalosome GO:1990909 9.16 CTNNB1 LRP5
5 sorting endosome GO:0097443 8.96 KDR NRP1

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

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.99 CTNNB1 FZD4 LRP5 NDP
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.97 EPO KDR NRP1 TEK
3 positive regulation of cell migration GO:0030335 9.96 FLT1 IGF1 KDR VEGFA
4 positive regulation of DNA binding transcription factor activity GO:0051091 9.91 CTNNB1 FZD4 LRP5 NDP
5 response to hypoxia GO:0001666 9.91 ANGPT2 CD38 EPO TEK VEGFA
6 negative regulation of angiogenesis GO:0016525 9.88 ANGPT2 CTNNB1 TEK
7 positive regulation of MAPK cascade GO:0043410 9.88 CTNNB1 FLT1 IGF1 KDR
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.87 IGF1 NRP1 VEGFA
9 canonical Wnt signaling pathway GO:0060070 9.87 CTNNB1 FZD4 LRP5 NDP
10 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.86 FLT1 KDR NRP1 VEGFA
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.85 EPO IGF1 VEGFA
12 positive regulation of endothelial cell proliferation GO:0001938 9.85 KDR NRP1 TEK VEGFA
13 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.84 FLT1 IGF1 KDR TEK
14 substrate adhesion-dependent cell spreading GO:0034446 9.81 FZD4 NRP1 TEK
15 vasculogenesis GO:0001570 9.8 CTNNB1 FZD4 KDR VEGFA
16 branching involved in blood vessel morphogenesis GO:0001569 9.79 CTNNB1 NRP1 VEGFA
17 positive regulation of mesenchymal cell proliferation GO:0002053 9.77 CTNNB1 LRP5 VEGFA
18 positive regulation of endothelial cell migration GO:0010595 9.76 KDR NRP1 TEK VEGFA
19 gastrulation with mouth forming second GO:0001702 9.71 CTNNB1 LRP5
20 negative regulation of cell-substrate adhesion GO:0010812 9.71 ANGPT2 FZD4
21 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.7 FLT1 VEGFA
22 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.7 NRP1 VEGFA
23 cell migration involved in sprouting angiogenesis GO:0002042 9.7 KDR NRP1 VEGFA
24 positive regulation of positive chemotaxis GO:0050927 9.69 KDR VEGFA
25 cardiac muscle fiber development GO:0048739 9.69 TCAP VEGFA
26 coronary artery morphogenesis GO:0060982 9.68 NRP1 VEGFA
27 sympathetic ganglion development GO:0061549 9.68 CTNNB1 NRP1
28 commissural neuron axon guidance GO:0071679 9.67 NRP1 VEGFA
29 endothelial cell chemotaxis GO:0035767 9.67 NRP1 VEGFA
30 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.67 FLT1 KDR NRP1 VEGFA
31 positive regulation of axon extension involved in axon guidance GO:0048842 9.65 NRP1 VEGFA
32 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.65 KDR VEGFA
33 retinal blood vessel morphogenesis GO:0061304 9.65 FZD4 LRP5
34 glomerulus vasculature development GO:0072012 9.64 ANGPT2 TEK
35 Tie signaling pathway GO:0048014 9.63 ANGPT2 TEK
36 positive regulation of angiogenesis GO:0045766 9.63 ANGPT2 FLT1 KDR NRP1 TEK VEGFA
37 regulation of retinal ganglion cell axon guidance GO:0090259 9.62 NRP1 VEGFA
38 motor neuron migration GO:0097475 9.62 NRP1 VEGFA
39 vascular endothelial growth factor signaling pathway GO:0038084 9.61 FLT1 KDR NRP1
40 VEGF-activated neuropilin signaling pathway GO:0038190 9.59 NRP1 VEGFA
41 positive regulation of retinal ganglion cell axon guidance GO:1902336 9.58 NRP1 VEGFA
42 positive regulation of focal adhesion assembly GO:0051894 9.56 KDR NRP1 TEK VEGFA
43 extracellular matrix-cell signaling GO:0035426 9.5 FZD4 LRP5 NDP
44 angiogenesis GO:0001525 9.5 ANGPT2 FLT1 KDR NRP1 TEK TSPAN12
45 retina vasculature morphogenesis in camera-type eye GO:0061299 8.92 FZD4 LRP5 NDP NRP1
46 signal transduction GO:0007165 10.31 ANGPT2 CD38 CTNNB1 EPO FZD4 IGF1
47 multicellular organism development GO:0007275 10.22 ANGPT2 FLT1 FZD4 KDR LRP5 NRP1
48 cell differentiation GO:0030154 10.18 ANGPT2 CTNNB1 FLT1 KDR NRP1 VEGFA
49 negative regulation of apoptotic process GO:0043066 10.11 CD38 EPO IGF1 KDR TEK VEGFA
50 positive regulation of cell proliferation GO:0008284 10.02 CTNNB1 EPO FLT1 IGF1 KDR LRP5

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FLT1 KDR TEK
2 Wnt-activated receptor activity GO:0042813 9.33 FZD4 LRP5 TSPAN12
3 growth factor binding GO:0019838 9.26 FLT1 KDR NRP1 TEK
4 vascular endothelial growth factor-activated receptor activity GO:0005021 8.8 FLT1 KDR NRP1
5 protein binding GO:0005515 10.25 ANGPT2 ATP7B CDKN1C CTNNB1 EPO FLT1

Sources for Exudative Vitreoretinopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....