EVR1
MCID: EXD008
MIFTS: 72

Exudative Vitreoretinopathy 1 (EVR1)

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

Aliases & Classifications for Exudative Vitreoretinopathy 1

MalaCards integrated aliases for Exudative Vitreoretinopathy 1:

Name: Exudative Vitreoretinopathy 1 57 29 6 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
SNOMED-CT 68 74277007
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 skin hemangioma, 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 PI3K-Akt signaling pathway. The drugs Ribavirin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotypes are blindness and retinal arteriolar tortuosity

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 top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 31.9 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
2 skin hemangioma 30.8 VEGFA KDR FLT1
3 hemangioma 30.8 VEGFA KDR FLT1
4 retinal detachment 30.7 VEGFA TSPAN12 NDP LRP5 FZD4 CTNNB1
5 norrie disease 30.6 TSPAN12 NDP LRP5 FZD4
6 retinal vascular disease 30.2 ZNF408 VEGFA TSPAN12 NDP LRP5 KDR
7 coats disease 30.0 VEGFA TSPAN12 NDP LRP5 KDR FZD4
8 persistent hyperplastic primary vitreous 29.9 TSPAN12 NDP FZD4
9 microvascular complications of diabetes 5 29.8 VEGFA KDR IGF1 FLT1
10 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.0
11 exudative vitreoretinopathy 2, x-linked 11.0
12 exudative vitreoretinopathy 4 11.0
13 exudative vitreoretinopathy 3 11.0
14 exudative vitreoretinopathy 5 11.0
15 mental retardation with language impairment and with or without autistic features 11.0
16 microcephaly and chorioretinopathy, autosomal recessive, 1 11.0
17 refractive error 10.4
18 leukocoria 10.2 NDP LRP5 FZD4
19 incontinentia pigmenti 10.2
20 choroiditis 10.2
21 congenital toxoplasmosis 10.2
22 toxoplasmosis 10.2
23 spinal muscular atrophy 10.2
24 muscular atrophy 10.2
25 osteoporosis-pseudoglioma syndrome 10.2 NDP LRP5 FZD4 CTNNB1
26 male reproductive organ cancer 10.2 VEGFA IGF1 CTNNB1
27 angiokeratoma circumscriptum 10.2 VEGFA KDR FLT1
28 epithelioid hemangioendothelioma 10.2 VEGFA KDR FLT1
29 capillary hemangioma 10.2 VEGFA KDR FLT1
30 glomeruloid hemangioma 10.2 VEGFA FLT1
31 reproductive system disease 10.2 CTNNB1 IGF1 VEGFA
32 strabismus 10.2
33 yemenite deaf-blind hypopigmentation syndrome 10.2
34 bronchopulmonary dysplasia 10.2
35 hyperglycemia 10.2
36 vascular cancer 10.2 VEGFA KDR FLT1
37 corneal neovascularization 10.2 VEGFA KDR FLT1
38 placental insufficiency 10.2 VEGFA KDR FLT1
39 gastrointestinal system cancer 10.2 CTNNB1 KDR VEGFA
40 angiosarcoma 10.2 VEGFA KDR FLT1
41 retinal telangiectasia 10.1 VEGFA TSPAN12 NDP FZD4
42 microvascular complications of diabetes 1 10.1 FLT1 IGF1 VEGFA
43 retinoblastoma 10.1
44 insulin-like growth factor i 10.1
45 cataract 10.1
46 thrombocytopenia 10.1
47 myopia 10.1
48 endocrine gland cancer 10.1 VEGFA KDR CTNNB1
49 myeloma, multiple 10.1 VEGFA IGF1 EPO CD38
50 gastrointestinal system disease 10.1 VEGFA CTNNB1 ATP7B

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

UMLS symptoms related to Exudative Vitreoretinopathy 1:


hyperoxia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.15 KDR
2 Decreased viability GR00221-A-2 10.15 CDKN1C FLT1 KDR
3 Decreased viability GR00221-A-3 10.15 CDKN1C KDR
4 Decreased viability GR00221-A-4 10.15 CDKN1C KDR
5 Decreased viability GR00240-S-1 10.15 TCAP
6 Decreased viability GR00301-A 10.15 CDKN1C
7 Decreased viability GR00381-A-1 10.15 ARHGAP1
8 Decreased viability GR00402-S-2 10.15 ARHGAP1 ATP7B CD38 CDKN1C CPVL CTNNB1
9 no effect GR00402-S-1 9.62 ARHGAP1 ATP7B CD38 CDKN1C CPVL CTNNB1

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 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
2 cardiovascular system MP:0005385 10.26 CTNNB1 EPO FLT1 FZD4 IGF1 KDR
3 homeostasis/metabolism MP:0005376 10.21 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
4 hematopoietic system MP:0005397 10.2 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
5 immune system MP:0005387 10.14 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
6 endocrine/exocrine gland MP:0005379 10.13 ARHGAP1 ATP7B CD38 CTNNB1 FZD4 IGF1
7 embryo MP:0005380 10.1 ARHGAP1 CTNNB1 EPO FLT1 FZD4 KDR
8 integument MP:0010771 10.02 ARHGAP1 ATP7B CTNNB1 EPO FZD4 IGF1
9 muscle MP:0005369 9.96 ARHGAP1 ATP7B CTNNB1 EPO FLT1 FZD4
10 liver/biliary system MP:0005370 9.87 ARHGAP1 ATP7B CTNNB1 EPO KDR LRP5
11 normal MP:0002873 9.81 CTNNB1 EPO FLT1 FZD4 IGF1 INPP5J
12 pigmentation MP:0001186 9.35 ATP7B CTNNB1 FZD4 LRP5 NDP
13 vision/eye MP:0005391 9.23 CTNNB1 FLT1 FZD4 KDR LRP5 NDP

Drugs & Therapeutics for Exudative Vitreoretinopathy 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 1 36791-04-5 37542
2 Anti-Infective Agents Phase 1
3 Pharmaceutical Solutions Phase 1
4 Antiviral Agents Phase 1
5 interferons Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety, Antiviral Activity and PK of MRD of BI 201335 in Chronic Hepatitis C Patients Both Treatment Naive and -Experienced Completed NCT00793793 Phase 1 BI201335;BI201335;BI201335;BI201335;Placebo

Search NIH Clinical Center for Exudative Vitreoretinopathy 1

Cochrane evidence based reviews: retinopathy of prematurity

Genetic Tests for Exudative Vitreoretinopathy 1

Genetic tests related to Exudative Vitreoretinopathy 1:

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

Anatomical Context for Exudative Vitreoretinopathy 1

MalaCards organs/tissues related to Exudative Vitreoretinopathy 1:

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

Publications for Exudative Vitreoretinopathy 1

Articles related to Exudative Vitreoretinopathy 1:

(show top 50) (show all 1477)
# Title Authors Year
1
Early postnatal weight gain as a predictor for the development of retinopathy of prematurity. ( 28920494 )
2019
2
Propofol and fentanyl sedation for laser treatment of retinopathy of prematurity to avoid intubation. ( 28974135 )
2019
3
Foveal Development in Infants Treated with Bevacizumab or Laser Photocoagulation for Retinopathy of Prematurity. ( 29103792 )
2018
4
Mutation spectrum of <i>NDP</i>, <i>FZD4</i> and <i>TSPAN12</i> genes in Indian patients with retinopathy of prematurity. ( 28982955 )
2018
5
A Pathogenic Relationship of Bronchopulmonary Dysplasia and Retinopathy of Prematurity? A Review of Angiogenic Mediators in Both Diseases. ( 29951473 )
2018
6
Correlation of Retinopathy of Prematurity with Bronchopulmonary Dysplasia. ( 29607416 )
2018
7
Sildenafil and Retinopathy of Prematurity in Preterm Infants with Bronchopulmonary Dysplasia. ( 29753546 )
2018
8
Chorioamnionitis as a risk factor for retinopathy of prematurity: An updated systematic review and meta-analysis. ( 30332485 )
2018
9
Nosocomial Cytomegalovirus Infection Resulting in Worsening of Retinopathy of Prematurity. ( 29127613 )
2018
10
Late exudative retinopathy after laser treatment for retinopathy of prematurity in a child with dyskeratosis congenita. ( 30170046 )
2018
11
Intravitreal anti-VEGF treatment for retinopathy of prematurity in infants with active adenoviral keratoconjunctivitis. ( 28393562 )
2018
12
Spontaneous Attachment of Rhegmatogenous Retinal Detachment Following Vitrectomy for Stage 4B Retinopathy of Prematurity and Atypical Retinal Changes Post-Resolution. ( 30021044 )
2018
13
EXUDATIVE RETINAL DETACHMENT DOCUMENTED BY HANDHELD SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY AFTER RETINAL LASER PHOTOCOAGULATION FOR RETINOPATHY OF PREMATURITY. ( 30028792 )
2018
14
A Surgical Technique for the Management of Tractional Retinal Detachment in Aggressive Posterior Retinopathy of Prematurity Treated With Intravitreal Bevacizumab. ( 30198966 )
2018
15
Letter to the Editor: Spontaneous Attachment of Rhegmatogenous Retinal Detachment Following Vitrectomy for Stage 4B Retinopathy of Prematurity and Atypical Retinal Changes Post-Resolution. ( 30457639 )
2018
16
Exudative retinal detachment, a primary presentation in retinopathy of prematurity. ( 29631849 )
2018
17
PROGRESSIVE RETINAL DETACHMENT IN INFANTS WITH RETINOPATHY OF PREMATURITY TREATED WITH INTRAVITREAL BEVACIZUMAB OR RANIBIZUMAB. ( 28471890 )
2018
18
The genetics of retinopathy of prematurity: a model for neovascular retinal disease. ( 30250936 )
2018
19
Thrombocytopenia is associated with severe retinopathy of prematurity. ( 30282834 )
2018
20
THROMBOCYTOPENIA AS A RISK FACTOR FOR RETINOPATHY OF PREMATURITY. ( 29370028 )
2018
21
Longitudinal study of the association between thrombocytopenia and retinopathy of prematurity. ( 29548837 )
2018
22
Visualizing Macular Microvasculature Anomalies in 2 Infants With Treated Retinopathy of Prematurity. ( 30326081 )
2018
23
Reducing Waiting-time of Preterm Babies at a Retinopathy of Prematurity Clinic: A Quality Improvement Project. ( 30345984 )
2018
24
Quality Improvement Initiative to Improve the Screening Rate of Retinopathy of Prematurity in Outborn Neonatal Intensive Care Graduates. ( 30345985 )
2018
25
Effects of Myo-inositol on Type 1 Retinopathy of Prematurity Among Preterm Infants <28 Weeks' Gestational Age: A Randomized Clinical Trial. ( 30357297 )
2018
26
Foveal microvascular anomalies on optical coherence tomography angiography and the correlation with foveal thickness and visual acuity in retinopathy of prematurity. ( 30361765 )
2018
27
Functional and Structural Outcomes of Temporal Zone II-Sparing Laser Photocoagulation Combined with Intravitreal Bevacizumab in Retinopathy of Prematurity. ( 30363696 )
2018
28
Intravitreal Delivery of VEGF-A165-loaded PLGA Microparticles Reduces Retinal Vaso-Obliteration in an In Vivo Mouse Model of Retinopathy of Prematurity. ( 30383455 )
2018
29
Comparison of clinical outcomes of intravitreal ranibizumab and aflibercept treatment for retinopathy of prematurity. ( 30397793 )
2018
30
An iTRAQ-Based Quantitative Proteomic Analysis of Plasma Proteins in Preterm Newborns With Retinopathy of Prematurity. ( 30398622 )
2018
31
The severity and associated comorbidities of retinopathy of prematurity among micro-premature infants with birth weights less than 750 grams. ( 30400108 )
2018
32
Programming Error Led to Underestimate of Effect Sizes in Study of Association of Maternal Preeclampsia and Risk of Infant Retinopathy of Prematurity. ( 30422231 )
2018
33
Efficacy of ultra-low-dose (0.1 mg) ranibizumab intravitreal injection for treatment of prethreshold type 1 retinopathy of prematurity: A case series. ( 30428702 )
2018
34
Assessment of Outcomes With a Sedation Protocol During Laser Photocoagulation in Preterm Infants With Retinopathy of Prematurity. ( 30429696 )
2018
35
Retinopathy of prematurity status during screening: invisible with binocular indirect ophthalmoscopy but established with Optos ultra-wide-field retinal imaging. ( 30439374 )
2018
36
Screening for retinopathy of prematurity by telemedicine in a tertiary level neonatal intensive care unit in France: Review of a six-year period. ( 30442486 )
2018
37
Factors in Premature Infants Associated With Low Risk of Developing Retinopathy of Prematurity. ( 30452500 )
2018
38
Refractive Trend of Stage 3 Retinopathy of Prematurity. ( 30452767 )
2018
39
Exploring the Limits: The Challenge of Finding the Right Dose for Anti-Vascular Endothelial Growth Factor Treatment in Retinopathy of Prematurity. ( 30454718 )
2018
40
Bilateral Vitreous Hemorrhage Following Bilateral Intravitreal Injections of Bevacizumab in an Infant With Retinopathy of Prematurity. ( 30457649 )
2018
41
Results of the National Program for the Prevention of Blindness in Childhood by Retinopathy of Prematurity in Argentina (2004-2016). ( 30457716 )
2018
42
The treatment and risk factors of retinopathy of prematurity in neonatal intensive care units. ( 30458733 )
2018
43
Early red cell transfusion is associated with development of severe retinopathy of prematurity. ( 30459388 )
2018
44
Algorithm for predicting threshold retinopathy of prematurity is insufficient and fundus examinations are still needed before 31 weeks. ( 30461053 )
2018
45
Clinical Presentation and Management Outcomes of Coexistent Congenital Glaucoma and Retinopathy of Prematurity. ( 30461550 )
2018
46
Deep learning for retinopathy of prematurity screening. ( 30470712 )
2018
47
Evaluation of a deep learning image assessment system for detecting severe retinopathy of prematurity. ( 30470715 )
2018
48
Screening Examination of Premature Infants for Retinopathy of Prematurity. ( 30478242 )
2018
49
Efficacy of intravitreal aflibercept monotherapy in retinopathy of prematurity evaluated by periodic fluorescence angiography and optical coherence tomography. ( 30478752 )
2018
50
Demographic profile and ocular characteristics of stage 5 retinopathy of prematurity at a referral center in Northwest China: implications for implementation. ( 30497419 )
2018

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 rs106479406
11 FZD4 p.Met223Lys VAR_063931
12 FZD4 p.Ile256Val VAR_063932 rs104894223
13 FZD4 p.Trp335Cys VAR_063933 rs80358292
14 FZD4 p.Met342Val VAR_063934 rs80358293
15 FZD4 p.Arg417Gln VAR_063936 rs80358294
16 FZD4 p.Thr445Pro VAR_063937 rs80358297
17 FZD4 p.Gly488Asp VAR_063938 rs80358298
18 FZD4 p.Ser497Phe VAR_063939 rs80358300
19 FZD4 p.Gly525Arg VAR_063940
20 LRP5 p.Arg348Trp VAR_063948
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 35)
# 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 GRCh37 Chromosome 11, 46722384: 46722388
14 ZNF408 NM_024741.2(ZNF408): c.-111C> A single nucleotide variant Uncertain significance rs796065314 GRCh37 Chromosome 11, 46722487: 46722487
15 ZNF408 NM_024741.2(ZNF408): c.402A> G (p.Gln134=) single nucleotide variant Uncertain significance rs561320549 GRCh37 Chromosome 11, 46724543: 46724543
16 ZNF408 NM_024741.2(ZNF408): c.2145G> T (p.Glu715Asp) single nucleotide variant Uncertain significance rs796065317 GRCh38 Chromosome 11, 46705845: 46705845
17 ZNF408 NM_024741.2(ZNF408): c.2145G> T (p.Glu715Asp) single nucleotide variant Uncertain significance rs796065317 GRCh37 Chromosome 11, 46727395: 46727395
18 ZNF408 NM_024741.2(ZNF408): c.402A> G (p.Gln134=) single nucleotide variant Uncertain significance rs561320549 GRCh38 Chromosome 11, 46702993: 46702993
19 ZNF408 NM_024741.2(ZNF408): c.-111C> A single nucleotide variant Uncertain significance rs796065314 GRCh38 Chromosome 11, 46700937: 46700937
20 ZNF408 NM_024741.2(ZNF408): c.130C> T (p.Pro44Ser) single nucleotide variant Uncertain significance rs796065315 GRCh38 Chromosome 11, 46701476: 46701476
21 ZNF408 NM_024741.2(ZNF408): c.130C> T (p.Pro44Ser) single nucleotide variant Uncertain significance rs796065315 GRCh37 Chromosome 11, 46723026: 46723026
22 ZNF408 NM_024741.2(ZNF408): c.694A> G (p.Met232Val) single nucleotide variant Uncertain significance rs796065316 GRCh38 Chromosome 11, 46704394: 46704394
23 ZNF408 NM_024741.2(ZNF408): c.-214_-210delGAATC deletion Uncertain significance rs796065313 GRCh38 Chromosome 11, 46700834: 46700838
24 ZNF408 NM_024741.2(ZNF408): c.694A> G (p.Met232Val) single nucleotide variant Uncertain significance rs796065316 GRCh37 Chromosome 11, 46725944: 46725944
25 ZNF408 NM_024741.2(ZNF408): c.1850C> A (p.Thr617Asn) single nucleotide variant Uncertain significance rs547169524 GRCh37 Chromosome 11, 46727100: 46727100
26 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh38 Chromosome 3, 41233777: 41233778
27 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh37 Chromosome 3, 41275268: 41275269
28 CTNNB1 NM_001904.3(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 GRCh37 Chromosome 3, 41279558: 41279558
29 CTNNB1 NM_001904.3(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 GRCh38 Chromosome 3, 41238067: 41238067
30 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup16 (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh37 Chromosome 3, 41280629: 41280644
31 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup16 (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh38 Chromosome 3, 41239138: 41239153
32 LRP5 NM_002335.3(LRP5): c.185delT (p.Leu62Argfs) deletion Pathogenic GRCh38 Chromosome 11, 68347940: 68347940
33 LRP5 NM_002335.3(LRP5): c.185delT (p.Leu62Argfs) deletion Pathogenic GRCh37 Chromosome 11, 68115408: 68115408
34 subset of 15 genes:FZD4 NC_000011.9: g.83315294_86755595del3440302 deletion Pathogenic GRCh37 Chromosome 11, 83315294: 86755595
35 ZNF408 NM_024741.2(ZNF408): c.1850C> A (p.Thr617Asn) single nucleotide variant Uncertain significance rs547169524 GRCh38 Chromosome 11, 46705550: 46705550

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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 CTNNB1 FLT1 IGF1 KDR VEGFA
2
Show member pathways
12.64 CTNNB1 EPO FLT1 FZD4 IGF1 KDR
3 12.63 CTNNB1 EPO FZD4 IGF1 LRP5 VEGFA
4
Show member pathways
12.62 CTNNB1 FLT1 IGF1 KDR VEGFA
5
Show member pathways
12.32 FLT1 FZD4 IGF1 KDR LRP5
6
Show member pathways
12.28 ARHGAP1 FLT1 KDR VEGFA
7 12.07 CTNNB1 FZD4 LRP5 VEGFA
8 11.95 CTNNB1 FLT1 KDR VEGFA
9 11.86 CTNNB1 FZD4 IGF1 KDR VEGFA
10
Show member pathways
11.85 FLT1 KDR VEGFA
11 11.83 CTNNB1 FZD4 IGF1
12 11.8 ARHGAP1 CTNNB1 FZD4 LRP5
13 11.71 EPO FLT1 IGF1 VEGFA
14 11.64 CDKN1C CTNNB1 LRP5
15 11.59 CTNNB1 FLT1 KDR VEGFA
16
Show member pathways
11.59 CTNNB1 FLT1 KDR VEGFA
17 11.57 CDKN1C IGF1 VEGFA
18 11.49 ARHGAP1 CTNNB1 FZD4 LRP5
19 11.39 EPO IGF1 VEGFA
20 11.28 FLT1 KDR VEGFA
21 10.97 ARHGAP1 FLT1 KDR VEGFA
22 10.92 FLT1 KDR VEGFA
23 10.46 EPO FLT1 KDR VEGFA
24
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 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.91 CTNNB1 IGF1 KDR VEGFA
2 angiogenesis GO:0001525 9.89 FLT1 KDR TSPAN12 VEGFA
3 positive regulation of cell migration GO:0030335 9.88 FLT1 IGF1 KDR VEGFA
4 kidney development GO:0001822 9.8 CDKN1C CTNNB1 VEGFA
5 positive regulation of MAPK cascade GO:0043410 9.8 CTNNB1 FLT1 IGF1 KDR
6 Wnt signaling pathway GO:0016055 9.8 CTNNB1 FZD4 LRP5 NDP TSPAN12
7 negative regulation of apoptotic process GO:0043066 9.8 CD38 CTNNB1 EPO FLT1 IGF1 KDR
8 positive regulation of DNA-binding transcription factor activity GO:0051091 9.79 CTNNB1 FZD4 NDP
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.75 FLT1 IGF1 KDR
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.74 EPO IGF1 VEGFA
11 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.73 FLT1 KDR VEGFA
12 positive regulation of osteoblast differentiation GO:0045669 9.72 CTNNB1 IGF1 LRP5
13 canonical Wnt signaling pathway GO:0060070 9.67 CTNNB1 FZD4 LRP5 NDP
14 gastrulation with mouth forming second GO:0001702 9.63 CTNNB1 LRP5
15 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.63 FLT1 VEGFA
16 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.63 FLT1 KDR VEGFA
17 cardiac muscle fiber development GO:0048739 9.61 TCAP VEGFA
18 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 CTNNB1 LRP5 VEGFA
19 positive regulation of positive chemotaxis GO:0050927 9.6 KDR VEGFA
20 positive regulation of transcription, DNA-templated GO:0045893 9.56 CD38 CDKN1C CTNNB1 EPO FZD4 IGF1
21 retina vasculature morphogenesis in camera-type eye GO:0061299 9.54 FZD4 NDP
22 retinal blood vessel morphogenesis GO:0061304 9.52 FZD4 LRP5
23 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.51 KDR VEGFA
24 vascular endothelial growth factor signaling pathway GO:0038084 9.5 FLT1 KDR VEGFA
25 extracellular matrix-cell signaling GO:0035426 9.48 FZD4 NDP
26 vasculogenesis GO:0001570 9.46 CTNNB1 FZD4 KDR VEGFA
27 positive regulation of cell proliferation GO:0008284 9.23 CD38 CTNNB1 EPO FLT1 IGF1 KDR

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
Content
Loading form....