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FEVR
MCID: EXD001
MIFTS: 55

Exudative Vitreoretinopathy (FEVR)

Categories: Blood diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Exudative Vitreoretinopathy

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MalaCards integrated aliases for Exudative Vitreoretinopathy:

Name: Exudative Vitreoretinopathy 12 29 15 71
Familial Exudative Vitreoretinopathy 12 52 25 58 36 29 6
Fevr 12 52 25 58
Criswick-Schepens Syndrome 52 58
Exudative Vitreoretinopathy, Familial 52
Vitreoretinopathy, Exudative ) 39
Exudative Vitreoretinopathy 1 71

Characteristics:

Orphanet epidemiological data:

58
familial exudative vitreoretinopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050535
KEGG 36 H00589
ICD9CM 34 362.10
ICD10 32 H35.00
MESH via Orphanet 44 C536382
ICD10 via Orphanet 33 H35.0
UMLS via Orphanet 72 C0339539 C1851402
Orphanet 58 ORPHA891
UMLS 71 C0004608 C1851402 C4072980
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Summaries for Exudative Vitreoretinopathy

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Genetics Home Reference : 25 Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue. The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. In others, a reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). This retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil. Some people with familial exudative vitreoretinopathy also have reduced bone mineral density, which weakens bones and increases the risk of fractures.

MalaCards based summary : Exudative Vitreoretinopathy, also known as familial exudative vitreoretinopathy, is related to exudative vitreoretinopathy 2, x-linked and exudative vitreoretinopathy 4. An important gene associated with Exudative Vitreoretinopathy is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Wnt signaling pathway and ERK Signaling. The drugs leucovorin and chloroquine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Disease Ontology : 12 A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.

NIH Rare Diseases : 52 Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina , the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The signs and symptoms include vision loss or blindness, retinal detachment , strabismus , and a visible whiteness (leukocoria ) in the normally black pupil. The severity of FEVR varies widely, even within the same family. Many people with this condition do not experience any vision problems. FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.

KEGG : 36 Familial exudative vitreoretinopathy (FEVR) is inherited retinal disorders with ocular manifestations that are caused by alterations in the Wnt signaling network. FEVR has an abnormal vascularization of the peripheral retina with the formation of retinal folds, retinal detachment, and in many cases the creation of a fibrovascular membrane located behind the lens. Mutations in NDP, FZD4, and LRP5 have been reported to be responsible for ophthalmic diseases including Norrie disease, FEVR, and osteoporosis pseudoglioma syndrome. The proteins encoded by these genes have all been shown to participate in the Wnt/Norrin signaling pathway. Recently, heterozygous mutations in TSPAN12, which is a component of the Norrin-FZD4-LRP5 signaling complex, have been found to be responsible for autosomal dominant FEVR.

Wikipedia : 74 Familial exudative vitreoretinopathy (FEVR, pronounced as fever) is a genetic disorder affecting the... more...

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Related Diseases for Exudative Vitreoretinopathy

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 2, x-linked 35.3 NDP LRP5 FZD4 FZD1
2 exudative vitreoretinopathy 4 35.2 TSPAN12 NDP LRP5 FZD4 FZD1
3 exudative vitreoretinopathy 3 35.2 TSPAN12 NDP FZD4 EVR3
4 exudative vitreoretinopathy 1 35.0 ZNF408 TSPAN12 NDP LRP5 FZD6 FZD4
5 vitreoretinopathy 32.3 ZNF408 TSPAN12 RCBTB1 NDP LRP5 KIF11
6 retinal detachment 32.1 ZNF408 TSPAN12 NDP LRP5 FZD4 CTNNB1
7 retinal vascular disease 32.0 ZNF408 TSPAN12 NDP LRP5 FZD4
8 norrie disease 31.8 ZNF408 TSPAN12 NDP LRP5 FZD4 FZD1
9 coats disease 31.6 ZNF408 TSPAN12 RCBTB1 NDP LRP5 FZD4
10 persistent hyperplastic primary vitreous, autosomal recessive 31.3 TSPAN12 ATOH7
11 leukocoria 31.2 ZNF408 TSPAN12 NDP LRP5 FZD4
12 osteoporosis-pseudoglioma syndrome 31.2 NDP LRP5 FZD4 CTNNB1
13 microphthalmia 31.0 NDP LRP5 KIF11 CTNNB1 ATOH7
14 persistent hyperplastic primary vitreous 30.9 ZNF408 TSPAN12 NDP LRP5 FZD5 FZD4
15 exudative vitreoretinopathy 5 13.0
16 exudative vitreoretinopathy 6 12.9
17 exudative vitreoretinopathy 7 12.8
18 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.8
19 mental retardation with language impairment and with or without autistic features 11.2
20 ndp-related retinopathies 10.6
21 yemenite deaf-blind hypopigmentation syndrome 10.6
22 retinal telangiectasia 10.5 ZNF408 TSPAN12 NDP FZD4
23 microcephaly 10.5
24 peripheral retinal degeneration 10.5 ZNF408 TSPAN12 ABCA4
25 dilated cardiomyopathy 1t 10.5 LRP5 JAG1
26 retinal disease 10.4
27 schizophrenia 19 10.4 FZD8 FZD5
28 joint laxity, short stature, and myopia 10.4
29 myopia 10.4
30 vascular disease 10.4
31 macular holes 10.4
32 retinoblastoma 10.3
33 macular retinal edema 10.3
34 familial retinoblastoma 10.3
35 eye disease 10.3
36 vitreous detachment 10.3
37 fundus dystrophy 10.3 ZNF408 TSPAN12 RCBTB1 LRP5 KIF11 FZD4
38 osteopathia striata with cranial sclerosis 10.3 LRP5 FZD9
39 osteoporosis 10.3
40 strabismus 10.3
41 retinitis pigmentosa 10.3
42 astigmatism 10.3
43 bone mineral density quantitative trait locus 8 10.3
44 bone mineral density quantitative trait locus 15 10.3
45 hereditary lymphedema i 10.3
46 suppression amblyopia 10.3
47 amblyopia 10.3
48 telangiectasis 10.3
49 uveitis 10.3
50 cataract 10.3

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



Diseases related to Exudative Vitreoretinopathy
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Symptoms & Phenotypes for Exudative Vitreoretinopathy

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 9.26 ILK
2 Decreased substrate adherent cell growth GR00193-A-3 9.26 FZD1 FZD7 ILK
3 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.23 FZD1 FZD4 FZD6 FZD7 FZD9 JAG1

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.25 ABCA4 ATOH7 CTNNB1 FZD1 FZD4 FZD5
2 embryo MP:0005380 10.07 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
3 nervous system MP:0003631 10.03 ABCA4 ATOH7 CTNNB1 FZD1 FZD4 FZD5
4 digestive/alimentary MP:0005381 9.95 CTNNB1 FZD1 FZD4 FZD5 FZD7 ILK
5 hearing/vestibular/ear MP:0005377 9.87 CTNNB1 FZD1 FZD4 FZD6 JAG1 NDP
6 normal MP:0002873 9.81 ATOH7 CTNNB1 FZD1 FZD4 FZD6 FZD8
7 pigmentation MP:0001186 9.56 ABCA4 CTNNB1 FZD1 FZD4 FZD7 ILK
8 vision/eye MP:0005391 9.32 ABCA4 ATOH7 CTNNB1 FZD4 FZD5 FZD6
Sources

Drugs & Therapeutics for Exudative Vitreoretinopathy

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved 58-05-9 6006 143
2
chloroquine Approved, Investigational, Vet_approved 54-05-7 2719
3
Sulfadoxine Approved, Investigational 2447-57-6 17134
4
Pyrimethamine Approved, Investigational, Vet_approved 58-14-0 4993
5
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
6 Anti-Infective Agents
7 Chloroquine diphosphate 50-63-5
8 Amebicides
9 Fanasil, pyrimethamine drug combination
10 Vitamin B Complex
11 Antiprotozoal Agents
12 Folic Acid Antagonists
13 Antiparasitic Agents
14 Folate
15 Antimalarials
16 Vitamin B9
17 Antirheumatic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Familial Exudative Vitreoretinopathy Clinical and Molecular Studies Completed NCT00106756
2 Changes in Optical Coherence Tomography Leakage Mapping in Diabetic Macular Edema Before and After Treatment With Conbercept Not yet recruiting NCT04254536
3 Community Acceptability and Cost-effectiveness of Two Drug Distribution Methods for Home Based Management of Fevr in Kayunga District, Uganda Terminated NCT00259142 Chloroquine, sulphadoxine-pyrimethamine

Search NIH Clinical Center for Exudative Vitreoretinopathy

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Genetic Tests for Exudative Vitreoretinopathy

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Genetic tests related to Exudative Vitreoretinopathy:

# Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 29
2 Familial Exudative Vitreoretinopathy 29
Sources

Anatomical Context for Exudative Vitreoretinopathy

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MalaCards organs/tissues related to Exudative Vitreoretinopathy:

40
Retina, Eye, Bone, Testes, Endothelial, Brain, Cerebellum
Sources

Publications for Exudative Vitreoretinopathy

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Articles related to Exudative Vitreoretinopathy:

(show top 50) (show all 417)
# Title Authors PMID Year
1
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature. 6 61
29982478 2018
2
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. 61 6
23716654 2013
3
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). 6 61
22427576 2012
4
Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. 61 6
21334594 2011
5
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. 61 6
20159111 2010
6
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 6 61
20159112 2010
7
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 6 61
15981244 2005
8
Familial Exudative Vitreoretinopathy, Autosomal Dominant 6 61
20301326 2005
9
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. 61 6
15665352 2005
10
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 6 61
15488808 2004
11
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 61 6
14507768 2003
12
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 6 61
12172548 2002
13
NDP-Related Retinopathies 6 61
20301506 1999
14
Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy. 61 6
9618247 1998
15
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. 61 6
9382152 1997
16
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. 61 6
8946107 1996
17
Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. 61 6
7558002 1995
18
Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy. 61 6
8535448 1995
19
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. 6 61
8252044 1993
20
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. 6 61
8457509 1993
21
Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. 6 61
6897033 1982
22
Familial exudative vitreo-retinopathy. 6
95062 1979
23
Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy. 61
32420513 2020
24
ETIOLOGY AND CLINICAL CHARACTERISTICS OF MACULAR EDEMA IN PATIENTS WITH FAMILIAL EXUDATIVE VITREORETINOPATHY. 61
31404032 2020
25
MACULAR CAPILLARY DROPOUT IN FAMILIAL EXUDATIVE VITREORETINOPATHY AND ITS RELATIONSHIP WITH VISUAL ACUITY AND DISEASE PROGRESSION. 61
30865063 2020
26
Select pediatric vitreoretinal disease in the setting of Turner's syndrome. 61
32274445 2020
27
Outcomes of surgery in eyes with familial exudative vitreoretinopathyassociated retinal detachment. 61
31941588 2020
28
Viscodelamination of Localized Retrolental Plaques During Lens-Sparing Vitrectomy in Eyes With Pediatric Tractional Vitreoretinopathy. 61
32516225 2020
29
Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene. 61
32530348 2020
30
Outcome and risk factors of vitreoretinal surgery in pediatric patients with familial exudative vitreoretinopathy. 61
32385748 2020
31
A mouse model for kinesin family member 11 (Kif11)-associated familial exudative vitreoretinopathy. 61
31993640 2020
32
Posterior keratoconus in a patient with familial exudative vitreoretinopathy. 61
32317479 2020
33
Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families. 61
31765079 2020
34
Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort. 61
32238352 2020
35
Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes. 61
32507488 2020
36
The spectrum of genetic mutations in patients with asymptomatic mild familial exudative vitreoretinopathy. 61
31987760 2020
37
CTNNB1 (β-CATENIN) VITREORETINOPATHY: IMAGING CHARACTERISTICS AND SURGICAL MANAGEMENT. 61
32150115 2020
38
Characterization of Unique Lens Morphology in a Cohort of Children with Familial Exudative Vitreoretinopathy. 61
32141791 2020
39
Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India. 61
31999491 2020
40
Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature. 61
32097476 2020
41
Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing. 61
32112773 2020
42
Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature. 61
32039639 2020
43
Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy. 61
32201676 2020
44
MACULAR HOLE IN A YOUNG PATIENT AFFECTED BY FAMILIAL EXUDATIVE VITREORETINOPATHY. 61
28850050 2020
45
Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy. 61
31273345 2020
46
Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature. 61
31978232 2020
47
Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway. 61
32420371 2020
48
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape. 61
31892318 2019
49
Retinal Vascular Abnormalities in Phakomatosis Pigmentovascularis. 61
31420298 2019
50
Frizzled 4 regulates ventral blood vessel remodeling in the zebrafish retina. 61
31566834 2019
Sources

Variations for Exudative Vitreoretinopathy

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ClinVar genetic disease variations for Exudative Vitreoretinopathy:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF408 NM_024741.3(ZNF408):c.1697T>A (p.Leu566His)SNV Pathogenic 812466 11:46726947-46726947 11:46705397-46705397
2 LRP5 NM_002335.4(LRP5):c.4488+2T>GSNV Pathogenic 6287 rs80358322 11:68207386-68207386 11:68439918-68439918
3 FZD4 NM_012193.4(FZD4):c.1278_1281GACA[1] (p.Asp428fs)short repeat Pathogenic 224625 rs80358295 11:86662513-86662516 11:86951471-86951474
4 FZD4 NM_012193.4(FZD4):c.313A>G (p.Met105Val)SNV Pathogenic 224624 rs80358284 11:86663485-86663485 11:86952443-86952443
5 TSPAN12 NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)SNV Pathogenic 236067 rs878853243 7:120446673-120446673 7:120806619-120806619
6 ZNF408 NM_024741.3(ZNF408):c.1174T>C (p.Ser392Pro)SNV Likely pathogenic 812465 11:46726424-46726424 11:46704874-46704874
7 RCBTB1 NM_018191.4(RCBTB1):c.1172+1G>ASNV Likely pathogenic 224621 rs869312819 13:50118872-50118872 13:49544736-49544736
8 FZD4 NM_012193.4(FZD4):c.349T>C (p.Cys117Arg)SNV Likely pathogenic 812323 11:86663449-86663449 11:86952407-86952407
9 TSPAN12 NM_012338.4(TSPAN12):c.225_227del (p.Ile76del)deletion Likely pathogenic 437962 rs1171910750 7:120478889-120478891 7:120838835-120838837
10 LRP5 NM_002335.4(LRP5):c.1265C>T (p.Ala422Val)SNV Likely pathogenic 437991 rs761919591 11:68154033-68154033 11:68386565-68386565
11 LRP5 NM_002335.4(LRP5):c.3242T>G (p.Leu1081Arg)SNV Likely pathogenic 437992 rs1308485193 11:68192575-68192575 11:68425107-68425107
12 NDP NM_000266.4(NDP):c.-77A>GSNV Uncertain significance 224623 rs869312820 X:43817968-43817968 X:43958722-43958722
13 TSPAN12 NM_012338.4(TSPAN12):c.-251deldeletion Uncertain significance 358771 rs561967326 7:120498054-120498054 7:120858000-120858000
14 TSPAN12 NM_012338.4(TSPAN12):c.-251dupduplication Uncertain significance 358770 rs561967326 7:120498053-120498054 7:120857999-120858000
15 TSPAN12 NM_012338.4(TSPAN12):c.-245dupduplication Uncertain significance 358768 rs886061961 7:120498047-120498048 7:120857993-120857994
16 FZD4 NM_012193.4(FZD4):c.*5250deldeletion Uncertain significance 306328 rs886048715 11:86656934-86656934 11:86945892-86945892
17 FZD4 NM_012193.4(FZD4):c.*3909_*3912TTTG[9]short repeat Uncertain significance 306348 rs34325935 11:86658243-86658244 11:86947201-86947202
18 FZD4 NM_012193.4(FZD4):c.*3909_*3912TTTG[6]short repeat Uncertain significance 306350 rs34325935 11:86658244-86658251 11:86947202-86947209
19 FZD4 NM_012193.4(FZD4):c.*2956_*2960delinsAGTTAAAAGCindel Uncertain significance 306366 rs386755834 11:86659224-86659228 11:86948182-86948186
20 FZD4 NM_012193.4(FZD4):c.*3909_*3912TTTG[4]short repeat Uncertain significance 306352 rs34325935 11:86658244-86658259 11:86947202-86947217
21 FZD4 NM_012193.4(FZD4):c.*3909_*3912TTTG[7]short repeat Uncertain significance 306349 rs34325935 11:86658244-86658247 11:86947202-86947205
22 FZD4 NM_012193.4(FZD4):c.*3909_*3912TTTG[5]short repeat Uncertain significance 306351 rs34325935 11:86658244-86658255 11:86947202-86947213
23 FZD4 NM_012193.4(FZD4):c.*3060deldeletion Uncertain significance 306363 rs372319612 11:86659124-86659124 11:86948082-86948082
24 FZD4 NM_012193.4(FZD4):c.*2747dupduplication Likely benign 306369 rs562042557 11:86659436-86659437 11:86948394-86948395
25 TSPAN12 NM_012338.4(TSPAN12):c.*1067_*1068deldeletion Likely benign 358754 rs570865840 7:120427578-120427579 7:120787524-120787525
26 FZD4 NM_012193.4(FZD4):c.*5282_*5283deldeletion Likely benign 306327 rs371128840 11:86656901-86656902 11:86945859-86945860
27 TSPAN12 NM_012338.4(TSPAN12):c.469-12dupduplication Benign/Likely benign 198551 rs34396874 7:120446750-120446751 7:120806696-120806697
28 FZD4 NM_012193.4(FZD4):c.30_39CCCGGGGGCG[1] (p.Pro14fs)short repeat not provided 441133 rs1555086007 11:86666079-86666088 11:86955037-86955046
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Expression for Exudative Vitreoretinopathy

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Search GEO for disease gene expression data for Exudative Vitreoretinopathy.
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Pathways for Exudative Vitreoretinopathy

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Pathways related to Exudative Vitreoretinopathy according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

Pathways related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.82 LRP5 ILK FZD9 FZD8 FZD7 FZD6
2
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.34 TUBGCP6 FZD9 FZD8 FZD7 FZD6 FZD5
3
Parkinson disease 36
Show member pathways
 13.25 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
4
PI3K-Akt signaling pathway 36
Show member pathways
 13.09 JAG1 FZD9 FZD8 FZD7 FZD6 FZD5
5
Aldosterone synthesis and secretion 36
Show member pathways
 12.99 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
6
Signaling by Wnt 65
Show member pathways
 12.98 LRP5 FZD8 FZD7 FZD6 FZD5 FZD4
7
Pathways in cancer 36
12.97 LRP5 JAG1 FZD9 FZD8 FZD7 FZD6
8
Gastric cancer 36
Show member pathways
 12.89 LRP5 JAG1 FZD9 FZD8 FZD7 FZD6
9
S45 mutants of beta-catenin arent phosphorylated 65
Show member pathways
 12.65 LRP5 FZD8 FZD6 FZD5 FZD4 FZD1
10
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.65 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
11
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.61 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
12
Wnt signaling pathway 36
Show member pathways
 12.59 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
13
WNT Signaling 63
12.56 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
14
Presynaptic function of Kainate receptors 65
Show member pathways
 12.54 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
15
Translation Non-genomic (rapid) action of Androgen Receptor 22
Show member pathways
 12.48 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
16
Mesodermal Commitment Pathway 1
Show member pathways
 12.45 FZD8 FZD5 FZD4 CTNNB1
17
Proteoglycans in cancer 36
12.45 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
18
Wnt / Hedgehog / Notch 4
12.3 LRP5 JAG1 FZD6 FZD5 CTNNB1
19
Hippo signaling pathway 36
12.28 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
20
Autophagy Pathway 66
12.25 FZD9 FZD5 FZD4 FZD1
21
MAPK Signaling: Mitogens 64
Show member pathways
 12.24 ILK FZD9 FZD5 FZD4 FZD1
22
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.23 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
23
Signaling pathways regulating pluripotency of stem cells 36
12.21 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
24
Presenilin-Mediated Signaling 63
12.19 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
25
Colorectal Cancer Metastasis 63
12.13 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
26
Ectoderm Differentiation 1
12.12 FZD8 FZD5 FZD4 CTNNB1
27
G12-G13 in Cellular Signaling 63
12.1 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
28
Glioblastoma Multiforme 63
12.02 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
29
Non-Canonical Wnt Pathway 66
11.98 FZD9 FZD5 FZD4 FZD1 CTNNB1
30
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.82 LRP5 JAG1 ILK CTNNB1
31
Reelin Pathway (Cajal-Retzius cells) 63
11.81 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
32
Regulation of FZD by ubiquitination 65
Show member pathways
 11.47 LRP5 FZD8 FZD6 FZD5 FZD4
33
Association Between Physico-Chemical Features and Toxicity Associated Pathways 1
11.39 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
34
Wnt/beta-catenin Signaling Pathway in Leukemia 1
11.21 LRP5 FZD6 CTNNB1
35
Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds 1
11.16 FZD8 FZD7 FZD1 CTNNB1
36
Wnt signaling network 1
10.67 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
Sources

GO Terms for Exudative Vitreoretinopathy

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.24 TUBGCP6 TSPAN12 LRP5 KIF11 JAG1 ILK
2 plasma membrane GO:0005886 10.1 TSPAN12 LRP5 JAG1 ILK FZD9 FZD8
3 cell surface GO:0009986 9.63 NDP FZD9 FZD6 FZD5 FZD4 FZD1
4 apical part of cell GO:0045177 9.43 JAG1 FZD6 CTNNB1
5 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.96 LRP5 FZD8
6 Wnt signalosome GO:1990909 8.8 LRP5 FZD1 CTNNB1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 10.15 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
2 multicellular organism development GO:0007275 10.1 LRP5 JAG1 FZD9 FZD8 FZD7 FZD6
3 positive regulation of transcription, DNA-templated GO:0045893 10.08 NDP LRP5 ILK FZD7 FZD4 FZD1
4 nervous system development GO:0007399 10.02 NDP JAG1 FZD9 CTNNB1 ATOH7
5 angiogenesis GO:0001525 9.91 TSPAN12 JAG1 FZD8 FZD5
6 positive regulation of DNA-binding transcription factor activity GO:0051091 9.91 NDP LRP5 FZD4 FZD1 CTNNB1
7 cell surface receptor signaling pathway GO:0007166 9.86 TSPAN12 FZD9 FZD8 FZD7 FZD6 FZD5
8 positive regulation of osteoblast differentiation GO:0045669 9.83 LRP5 JAG1 ILK CTNNB1
9 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.83 FZD7 FZD6 FZD5 FZD4 FZD1
10 neuron differentiation GO:0030182 9.8 FZD8 FZD7 FZD5 FZD4 FZD1 CTNNB1
11 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.78 FZD6 FZD5 FZD4 CTNNB1
12 substrate adhesion-dependent cell spreading GO:0034446 9.77 ILK FZD7 FZD4
13 T cell differentiation in thymus GO:0033077 9.76 FZD8 FZD7 FZD5 CTNNB1
14 positive regulation of JUN kinase activity GO:0043507 9.75 FZD8 FZD5 FZD4
15 vasculature development GO:0001944 9.73 LRP5 FZD5 CTNNB1
16 beta-catenin destruction complex disassembly GO:1904886 9.72 FZD5 FZD1 CTNNB1
17 non-canonical Wnt signaling pathway GO:0035567 9.7 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
18 retina vasculature morphogenesis in camera-type eye GO:0061299 9.67 NDP LRP5 FZD4
19 positive regulation of neural precursor cell proliferation GO:2000179 9.64 FZD9 CTNNB1
20 negative regulation of cell-substrate adhesion GO:0010812 9.64 FZD7 FZD4
21 gastrulation with mouth forming second GO:0001702 9.63 LRP5 CTNNB1
22 cell fate determination GO:0001709 9.63 JAG1 CTNNB1
23 negative regulation of oxidative stress-induced neuron death GO:1903204 9.62 FZD1 CTNNB1
24 canonical Wnt signaling pathway GO:0060070 9.61 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
25 embryonic axis specification GO:0000578 9.6 FZD5 CTNNB1
26 retinal blood vessel morphogenesis GO:0061304 9.58 LRP5 FZD4
27 astrocyte-dopaminergic neuron signaling GO:0036520 9.57 FZD1 CTNNB1
28 extracellular matrix-cell signaling GO:0035426 9.54 NDP LRP5 FZD4
29 Wnt signaling pathway GO:0016055 9.36 TSPAN12 NDP LRP5 FZD9 FZD8 FZD7

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.87 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
2 ubiquitin protein ligase binding GO:0031625 9.73 FZD8 FZD6 FZD5 FZD4
3 transmembrane signaling receptor activity GO:0004888 9.7 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
4 amyloid-beta binding GO:0001540 9.58 FZD6 FZD5 FZD4
5 PDZ domain binding GO:0030165 9.56 FZD8 FZD7 FZD4 FZD1
6 Wnt-protein binding GO:0017147 9.56 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
7 frizzled binding GO:0005109 9.54 NDP FZD7 FZD1
8 Wnt-activated receptor activity GO:0042813 9.28 TSPAN12 LRP5 FZD9 FZD8 FZD7 FZD6
Sources

Sources for Exudative Vitreoretinopathy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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