EVR1
MCID: EXD008
MIFTS: 59

Exudative Vitreoretinopathy 1 (EVR1) malady

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

Aliases & Classifications for Exudative Vitreoretinopathy 1

Aliases & Descriptions for Exudative Vitreoretinopathy 1:

Name: Exudative Vitreoretinopathy 1 54 69
Retinopathy of Prematurity 54 12 50 24 56 29 42 14 69
Retrolental Fibroplasia 12 50 56
Familial Exudative Vitreoretinopathy, Autosomal Dominant 23 24
Autosomal Dominant Familial Exudative Vitreoretinopathy 66 29
Vitreoretinopathy, Exudative 1 66 29
Adfevr 23 24
Rop 50 56
Criswick-Schepens Syndrome 66
Premature Retinopathy 12
Fevr 66
Evr1 66

Characteristics:

Orphanet epidemiological data:

56
retinopathy of prematurity
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

GeneReviews:

23
exudative vitreoretinopathy 1:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset slow progression


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: 56  
Rare eye diseases


External Ids:

OMIM 54 133780
Disease Ontology 12 DOID:13025
ICD9CM 35 362.20 362.21
MeSH 42 D012178
NCIt 47 C34982
Orphanet 56 ORPHA90050
UMLS via Orphanet 70 C0035344
MESH via Orphanet 43 D012178
ICD10 via Orphanet 34 H35.1
UMLS 69 C0035344

Summaries for Exudative Vitreoretinopathy 1

OMIM : 54 Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the... (133780) more...

MalaCards based summary : Exudative Vitreoretinopathy 1, also known as retinopathy of prematurity, is related to fzd4-related familial exudative vitreoretinopathy, autosomal dominant and lrp5-related familial exudative vitreoretinopathy, autosomal dominant, and has symptoms including blindness, reduced visual acuity and retinal detachment. 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 Poractant alfa have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are cardiovascular system and cellular

UniProtKB/Swiss-Prot : 66 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.

GeneReviews: NBK1147

Related Diseases for Exudative Vitreoretinopathy 1

Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 5 Exudative Vitreoretinopathy 3
Exudative Vitreoretinopathy 6 Exudative Vitreoretinopathy 4
Exudative Vitreoretinopathy 1 Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive
Fzd4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant
Tspan12-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant

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

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 fzd4-related familial exudative vitreoretinopathy, autosomal dominant 12.2
2 lrp5-related familial exudative vitreoretinopathy, autosomal dominant 12.2
3 tspan12-related familial exudative vitreoretinopathy, autosomal dominant 12.2
4 ndp-related retinopathy of prematurity 12.0
5 exudative vitreoretinopathy 11.1
6 exudative vitreoretinopathy 5 10.8
7 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.8
8 exudative vitreoretinopathy 3 10.8
9 exudative vitreoretinopathy 4 10.8
10 exudative vitreoretinopathy 2, x-linked 10.8
11 microcephaly and chorioretinopathy, autosomal recessive, 1 10.7
12 retinitis 10.4
13 endotheliitis 10.4
14 breast osteosarcoma 10.3 FZD4 NDP TSPAN12
15 kidney osteogenic sarcoma 10.3 FLT1 KDR VEGFA
16 cornea plana 10.3 FZD4 NDP TSPAN12
17 nystagmus 5, congenital, x-linked 10.3 FZD4 LRP5 NDP TSPAN12
18 astigmatism 10.3 FZD4 LRP5 NDP
19 neuropathy with hearing impairment 10.3 FLT1 KDR VEGFA
20 vesiculobullous skin disease 10.2 KDR TEK VEGFA
21 radiation induced angiosarcoma of the breast 10.2 ANGPT2 TEK VEGFA
22 localized junctional epidermolysis bullosa, non-herlitz type 10.2 ANGPT2 FLT1 VEGFA
23 anterograde amnesia 10.2 FZD4 LRP5 NDP TSPAN12 VEGFA
24 neurilemmoma of the pleura 10.2 KDR NRP1 VEGFA
25 biemond syndrome ii 10.2 FZD4 KDR NDP TSPAN12 VEGFA
26 epidermolysis bullosa simplex, sutosomal recessive 2 10.2 ANGPT2 FLT1 IGF1 VEGFA
27 subdural empyema 10.2 FLT1 KDR TEK VEGFA
28 ovarian disease 10.2 FLT1 KDR NRP1 VEGFA
29 human granulocytic anaplasmosis 10.2 FLT1 KDR TEK VEGFA
30 mitral valve stenosis 10.2 FLT1 KDR VEGFA
31 pulmonary blastoma 10.2 ANGPT2 FLT1 KDR TEK
32 skin hemangioma 10.2
33 hemangioma 10.2
34 van buchem disease, type 2 10.1 CTNNB1 FZD4 LRP5 NDP
35 thymus adenosquamous carcinoma 10.1 FLT1 IGF1 KDR VEGFA
36 pituitary infarct 10.1 ANGPT2 TEK VEGFA
37 vulvitis 10.1 ANGPT2 FLT1 KDR TEK VEGFA
38 hemolytic anemia 10.1 ANGPT2 FLT1 KDR TEK VEGFA
39 mental retardation, autosomal recessive 27 10.1 ANGPT2 KDR VEGFA
40 hypermethioninemia 10.1 CDKN1C FZD4 LRP5 NDP NRP1 TSPAN12
41 citrullinemia, type ii, neonatal-onset 10.1 ANGPT2 FLT1 IGF1 KDR TEK VEGFA
42 retinal detachment 10.0
43 refractive error 10.0
44 norrie disease 10.0
45 papillary craniopharyngioma 10.0 CTNNB1 IGF1 VEGFA
46 oppositional defiant disorder 10.0 KDR TEK VEGFA
47 retinoschisis 10.0
48 choroiditis 9.9
49 insulin-like growth factor i 9.9
50 vernal conjunctivitis 9.9 ANGPT2 FLT1 FZD4 IGF1 KDR LRP5

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 by clinical synopsis from OMIM:

133780

Clinical features from OMIM:

133780

Human phenotypes related to Exudative Vitreoretinopathy 1:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 blindness 32 HP:0000618
2 reduced visual acuity 32 HP:0007663
3 retinal detachment 32 HP:0000541
4 recurrent fractures 32 HP:0002757
5 retinal exudate 32 HP:0001147
6 vitreous hemorrhage 32 HP:0007902
7 subcapsular cataract 32 HP:0000523
8 pigmentary retinal degeneration 32 HP:0001146
9 posterior vitreous detachment 32 HP:0001489
10 falciform retinal fold 32 HP:0001493
11 peripheral retinal avascularization 32 HP:0007685
12 exudative vitreoretinopathy 32 HP:0030490
13 retinal neovascularization 32 HP:0030666

UMLS symptoms related to Exudative Vitreoretinopathy 1:


hyperoxia

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 KDR LRP5 NDP NRP1 SERPINH1 TEK
2 cellular MP:0005384 10.34 ANGPT2 ATP7B CD38 CTNNB1 EPO FLT1
3 hematopoietic system MP:0005397 10.27 ATP7B CD38 CTNNB1 EPO FLT1 FZD4
4 homeostasis/metabolism MP:0005376 10.26 ANGPT2 ATP7B CD38 CTNNB1 EPO FLT1
5 mortality/aging MP:0010768 10.25 ANGPT2 ATP7B CPVL CTNNB1 EPO FLT1
6 embryo MP:0005380 10.21 CTNNB1 EPO FLT1 FZD4 KDR LRP5
7 immune system MP:0005387 10.2 EPO FLT1 IGF1 KDR LRP5 NRP1
8 nervous system MP:0003631 10.1 TEK VEGFA ATP7B CTNNB1 FLT1 FZD4
9 integument MP:0010771 10.09 INPP5J KDR VEGFA ANGPT2 ATP7B CTNNB1
10 muscle MP:0005369 10.07 VEGFA ATP7B CTNNB1 EPO FLT1 FZD4
11 normal MP:0002873 9.96 IGF1 INPP5J KDR LRP5 TEK VEGFA
12 pigmentation MP:0001186 9.55 ATP7B CTNNB1 FZD4 LRP5 NDP
13 respiratory system MP:0005388 9.5 KDR SERPINH1 VEGFA ANGPT2 CTNNB1 EPO
14 vision/eye MP:0005391 9.36 ANGPT2 CTNNB1 FLT1 FZD4 KDR LRP5

Drugs & Therapeutics for Exudative Vitreoretinopathy 1

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

(show top 50) (show all 220)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4,Phase 2 74103-06-3, 66635-83-4 3826
2 Poractant alfa Approved Phase 4 129069-19-8
3
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
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 347396-82-1 459903
9
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1 15687-27-1 3672
10
Indomethacin Approved, Investigational Phase 4,Phase 3 53-86-1 3715
11
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 11103-57-4, 68-26-8 445354
12
Caffeine Approved, Nutraceutical Phase 4,Phase 3,Phase 2 58-08-2 2519
13 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
14 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
15 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
17 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
19 Ketorolac Tromethamine Phase 4,Phase 2
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Pulmonary Surfactants Phase 4,Phase 3,Phase 2
22 Anesthetics Phase 4,Phase 2,Phase 3
23 Central Nervous System Depressants Phase 4,Phase 3
24 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
25 Micronutrients Phase 4,Phase 3,Phase 2
26 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Retinol palmitate Phase 4,Phase 3
28 Trace Elements Phase 4,Phase 3,Phase 2
29 Vitamins Phase 4,Phase 3,Phase 2
30 Angiogenesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
31 Angiogenesis Modulating Agents Phase 4,Phase 2,Phase 3,Phase 1
32 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1
33 Anesthetics, Dissociative Phase 4
34 Anesthetics, General Phase 4,Phase 3
35 Anesthetics, Inhalation Phase 4,Phase 3
36 Anesthetics, Intravenous Phase 4
37 Excitatory Amino Acid Antagonists Phase 4
38 Excitatory Amino Acids Phase 4
39 Hypnotics and Sedatives Phase 4
40 Neuromuscular Blocking Agents Phase 4
41 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
42 Platelet Aggregation Inhibitors Phase 4,Phase 3
43 Endothelial Growth Factors Phase 4,Phase 1,Phase 2
44 Mitogens Phase 4,Phase 1,Phase 2
45 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
46 Lactoferrin Phase 4
47 Anticoagulants Phase 4,Phase 2
48 Caffeine citrate Phase 4,Phase 3,Phase 2
49 Calcium, Dietary Phase 4,Phase 3,Phase 2
50 Central Nervous System Stimulants Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 193)
id Name Status NCT ID Phase
1 Efficient Study of ACULAR in Inhibiting Proliferative Retinopathy in Prematurity Unknown status NCT00634972 Phase 4
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
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
10 Early Versus Late Lactoferrin in Prevention of Neonatal Sepsis Completed NCT02959229 Phase 4
11 MRI and Neurodevelopment in Preterm Infants Following Administration of High-Dose Caffeine Completed NCT00809055 Phase 4
12 Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00504959 Phase 4
13 OPTIMIST-A Trial: Minimally-invasive Surfactant Therapy in Preterm Infants 25-28 Weeks Gestation on CPAP Recruiting NCT02140580 Phase 4
14 VEGF Concentrations After Intravitreal Bevacizumab vs Ranibizumab as a Treatment for Type 1 ROP Not yet recruiting NCT03148132 Phase 4
15 Comparing Ibuprofen And Indomethacin For The Treatment Of The Patent Ductus Arteriosus in Very Premature Babies Withdrawn NCT00470743 Phase 4
16 Antiangiogenic Therapy With Bevacizumab in Retinopathy of Prematurity. Structural Outcome Unknown status NCT00346814 Phase 2, Phase 3
17 The Early Treatment for Retinopathy of Prematurity Study (ETROP) Unknown status NCT00027222 Phase 2, Phase 3
18 Oral Vitamin A Supplementation in Neonates With Birth Weight < 1500 g Unknown status NCT02102711 Phase 3
19 Randomized Study of Pessary Versus Standard Management in Women With Increased Chance of Premature Birth Unknown status NCT00735137 Phase 3
20 Cysteine Supplementation in Critically Ill Neonates Unknown status NCT00254176 Phase 2, Phase 3
21 A Fatty Acids Study in Preventing Retinopathy of Prematurity Completed NCT02760472 Phase 3
22 Safety and Efficacy of Propranolol in Newborns With Retinopathy of Prematurity Completed NCT01079715 Phase 2, Phase 3
23 The Effects of Light Reduction on Retinopathy of Prematurity (Light-ROP) Completed NCT00000156 Phase 3
24 Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity Completed NCT01203436 Phase 2, Phase 3
25 Inhaled Nitrous Oxide for Pain Relief During Eye Exam in the Pre-term Infant Completed NCT00623220 Phase 3
26 Premature Infants in Need of Transfusion (PINT) Completed NCT00182390 Phase 3
27 Oxygen Toxicity in the Resuscitation in Extremely Premature Infants Completed NCT00494702 Phase 3
28 Inhaled Nitric Oxide to Prevent and Treat Bronchopulmonary Dysplasia Completed NCT01503801 Phase 2, 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
30 Caffeine for Apnea of Prematurity (CAP) Completed NCT00182312 Phase 3
31 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3
32 NIV Strategies for RDS in Preterm Infants. NIV (Non Invasive Ventilation), RDS (Respiratory Distress Syndrome) Completed NCT02259400 Phase 2, Phase 3
33 Fluconazole Prophylaxis for the Prevention of Candidiasis in Infants Less Than 750 Grams Birthweight Completed NCT00734539 Phase 3
34 Canadian Oxygen Trial (COT) Completed NCT00637169 Phase 3
35 Nasal Intermittent Positive Pressure Ventilation in Premature Infants (NIPPV) Completed NCT00433212 Phase 3
36 Omega-3 Fatty Acid Supplementation to Prevent Preterm Birth in High Risk Pregnancies Completed NCT00135902 Phase 3
37 High Versus Low Dose of Caffeine for Apnea of Prematurity Completed NCT02103777 Phase 3
38 Trial of Aggressive Versus Conservative Phototherapy in Infants <1,000 Grams Birth Weight Completed NCT00114543 Phase 3
39 Pentoxifylline and Late Onset Sepsis in Preterm Infants Completed NCT02163174 Phase 3
40 Safety and Efficacy Study of Ibuprofen l-Lysine Solution in Premature Infants for Treatment of PDA Completed NCT00440804 Phase 3
41 High Dose Folic Acid Supplementation Throughout Pregnancy for Preeclampsia Prevention Completed NCT01355159 Phase 3
42 Trial of Progesterone in Twins and Triplets to Prevent Preterm Birth (STTARS) Completed NCT00099164 Phase 3
43 Prevention Trial of Nosocomial Infections in Neutropenic Prematures With G-CSF Completed NCT00213759 Phase 3
44 RAINBOW Study: RAnibizumab Compared With Laser Therapy for the Treatment of INfants BOrn Prematurely With Retinopathy of Prematurity Recruiting NCT02375971 Phase 3
45 Rainbow Extension Study Recruiting NCT02640664 Phase 3
46 Sildenafil Therapy In Dismal Prognosis Early-Onset Intrauterine Growth Restriction Recruiting NCT02442492 Phase 2, Phase 3
47 Dose Reduction of Antenatal Betamethasone Given to Prevent the Neonatal Complications Associated With Very Preterm Birth Recruiting NCT02897076 Phase 3
48 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Recruiting NCT01376778 Phase 3
49 Maternal Omega-3 Supplementation to Reduce Bronchopulmonary Dysplasia Recruiting NCT02371460 Phase 3
50 Comparison of Two Flow Rates of HHHFNC to Prevent Extubation Failure in Preterm Infants Recruiting NCT02681315 Phase 3

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:

id Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 1 29
2 Retinopathy of Prematurity 29 24 FZD4
3 Familial Exudative Vitreoretinopathy, Autosomal Dominant 29 24 TSPAN12 FZD4 LRP5

Anatomical Context for Exudative Vitreoretinopathy 1

MalaCards organs/tissues related to Exudative Vitreoretinopathy 1:

39
Retina, Eye

Publications for Exudative Vitreoretinopathy 1

Variations for Exudative Vitreoretinopathy 1

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

66 (show all 23)
id 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
23 LRP5 p.Tyr1517Cys VAR_076550 rs201030241

ClinVar genetic disease variations for Exudative Vitreoretinopathy 1:

6
id 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 26)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 ANGPT2 CTNNB1 FLT1 FZD4 IGF1 KDR
2
Show member pathways
13.21 ANGPT2 CTNNB1 FLT1 IGF1 KDR NRP1
3
Show member pathways
13.19 CTNNB1 FLT1 FZD4 IGF1 KDR TEK
4
Show member pathways
12.9 CTNNB1 FLT1 FZD4 IGF1 KDR LRP5
5
Show member pathways
12.55 ANGPT2 CTNNB1 FLT1 IGF1 KDR TEK
6
Show member pathways
12.38 FLT1 FZD4 IGF1 KDR LRP5
7
Show member pathways
12.31 CTNNB1 KDR NRP1 VEGFA
8
Show member pathways
12.27 FLT1 KDR NRP1 VEGFA
9 12.23 ANGPT2 EPO FLT1 IGF1 KDR TEK
10 12.16 CTNNB1 FZD4 IGF1 KDR VEGFA
11
Show member pathways
12.14 FLT1 KDR NRP1 VEGFA
12 12.08 CTNNB1 FZD4 LRP5 VEGFA
13 11.99 ANGPT2 FLT1 KDR TEK
14 11.76 FLT1 TEK VEGFA
15 11.72 ANGPT2 FLT1 KDR TEK
16 11.66 CDKN1C CTNNB1 LRP5
17
Show member pathways
11.62 CTNNB1 FLT1 KDR NRP1 VEGFA
18 11.61 CTNNB1 FLT1 KDR VEGFA
19 11.52 CDKN1C IGF1 SERPINH1 VEGFA
20 11.47 CTNNB1 LRP5 TEK
21 11.4 EPO IGF1 VEGFA
22 11.27 ANGPT2 EPO VEGFA
23 11.15 EPO FLT1 KDR VEGFA
24 11.1 ANGPT2 EPO FLT1 IGF1 TEK VEGFA
25
Show member pathways
10.81 FLT1 KDR VEGFA
26 10.64 FLT1 KDR TEK VEGFA

GO Terms for Exudative Vitreoretinopathy 1

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.86 ANGPT2 EPO FLT1 IGF1 NDP NRP1
2 extracellular region GO:0005576 9.65 ANGPT2 DEFB127 EPO FLT1 IGF1 KDR
3 Wnt signalosome GO:1990909 9.32 CTNNB1 LRP5
4 cell surface GO:0009986 9.17 CD38 EPO FZD4 NDP NRP1 TEK
5 sorting endosome GO:0097443 9.16 KDR NRP1

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

(show all 49)
id 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 9.96 EPO KDR NRP1 TEK
3 positive regulation of cell migration GO:0030335 9.96 FLT1 IGF1 KDR VEGFA
4 response to hypoxia GO:0001666 9.92 ANGPT2 CD38 EPO TEK VEGFA
5 positive regulation of transcription, DNA-templated GO:0045893 9.92 CD38 CDKN1C CTNNB1 EPO FZD4 IGF1
6 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.91 CTNNB1 FZD4 LRP5 NDP
7 kidney development GO:0001822 9.88 CDKN1C CTNNB1 VEGFA
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.87 IGF1 NRP1 VEGFA
9 positive regulation of MAPK cascade GO:0043410 9.87 CTNNB1 FLT1 IGF1 KDR
10 canonical Wnt signaling pathway GO:0060070 9.86 CTNNB1 FZD4 LRP5 NDP
11 negative regulation of angiogenesis GO:0016525 9.85 ANGPT2 CTNNB1 TEK
12 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.85 FLT1 KDR NRP1 VEGFA
13 positive regulation of endothelial cell proliferation GO:0001938 9.84 KDR NRP1 TEK VEGFA
14 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.83 EPO IGF1 VEGFA
15 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.81 FLT1 IGF1 KDR TEK
16 positive regulation of angiogenesis GO:0045766 9.8 ANGPT2 FLT1 KDR TEK VEGFA
17 branching involved in blood vessel morphogenesis GO:0001569 9.79 CTNNB1 NRP1 VEGFA
18 vasculogenesis GO:0001570 9.78 CTNNB1 FZD4 KDR VEGFA
19 positive regulation of mesenchymal cell proliferation GO:0002053 9.77 CTNNB1 LRP5 VEGFA
20 positive regulation of focal adhesion assembly GO:0051894 9.75 KDR TEK VEGFA
21 positive regulation of endothelial cell migration GO:0010595 9.73 KDR NRP1 TEK VEGFA
22 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.71 EPO IGF1
23 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.7 FLT1 VEGFA
24 negative regulation of cell-substrate adhesion GO:0010812 9.7 ANGPT2 FZD4
25 positive regulation of positive chemotaxis GO:0050927 9.69 KDR VEGFA
26 endothelial cell chemotaxis GO:0035767 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 coronary artery morphogenesis GO:0060982 9.67 NRP1 VEGFA
30 cell migration involved in sprouting angiogenesis GO:0002042 9.67 KDR NRP1 VEGFA
31 positive regulation of axon extension involved in axon guidance GO:0048842 9.66 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 9.64 FZD4 LRP5
34 glomerulus vasculature development GO:0072012 9.64 ANGPT2 TEK
35 Tie signaling pathway GO:0048014 9.63 ANGPT2 TEK
36 motor neuron migration GO:0097475 9.62 NRP1 VEGFA
37 regulation of retinal ganglion cell axon guidance GO:0090259 9.62 NRP1 VEGFA
38 positive regulation of retinal ganglion cell axon guidance GO:1902336 9.59 NRP1 VEGFA
39 VEGF-activated neuropilin signaling pathway GO:0038190 9.58 NRP1 VEGFA
40 vascular endothelial growth factor signaling pathway GO:0038084 9.54 FLT1 KDR NRP1
41 angiogenesis GO:0001525 9.5 ANGPT2 FLT1 KDR NRP1 TEK TSPAN12
42 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.46 FLT1 KDR NRP1 VEGFA
43 extracellular matrix-cell signaling GO:0035426 9.43 FZD4 LRP5 NDP
44 retina vasculature morphogenesis in camera-type eye GO:0061299 8.92 FZD4 LRP5 NDP NRP1
45 signal transduction GO:0007165 10.32 ANGPT2 CD38 CTNNB1 EPO FZD4 IGF1
46 multicellular organism development GO:0007275 10.22 ANGPT2 FLT1 FZD4 KDR LRP5 NRP1
47 cell differentiation GO:0030154 10.17 ANGPT2 CTNNB1 FLT1 KDR NRP1 VEGFA
48 negative regulation of apoptotic process GO:0043066 10.11 CD38 EPO IGF1 KDR TEK VEGFA
49 positive regulation of cell proliferation GO:0008284 10 CTNNB1 EPO FLT1 IGF1 KDR LRP5

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

id 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 DEFB127 EPO

Sources for Exudative Vitreoretinopathy 1

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