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FEVR
MCID: EXD001
MIFTS: 57

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
SNOMED-CT 67 31411005 42873008
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
Sources

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 1 and vitreoretinopathy. 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 cardiovascular system and embryo

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 100)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 1 35.0 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
2 vitreoretinopathy 32.1 ZNF408 TSPAN12 RCBTB1 PRSS23 NDP-AS1 NDP
3 retinal detachment 31.9 ZNF408 TSPAN12 NDP LRP5 FZD4 CTNNB1
4 retinal vascular disease 31.9 ZNF408 TSPAN12 NDP LRP5 FZD4
5 norrie disease 31.7 ZNF408 TSPAN12 NDP LRP5 FZD4 FZD1
6 coats disease 31.5 ZNF408 TSPAN12 RCBTB1 NDP LRP5 FZD4
7 persistent hyperplastic primary vitreous, autosomal recessive 31.2 TSPAN12 ATOH7
8 leukocoria 31.1 ZNF408 TSPAN12 NDP LRP5 FZD4
9 osteoporosis-pseudoglioma syndrome 31.1 NDP LRP5 FZD4 CTNNB1
10 persistent hyperplastic primary vitreous 30.9 TSPAN12 NDP LRP5 FZD5 FZD4 ATOH7
11 microphthalmia 30.7 NDP LRP5 KIF11 CTNNB1 ATOH7
12 exudative vitreoretinopathy 2, x-linked 13.0
13 exudative vitreoretinopathy 4 13.0
14 exudative vitreoretinopathy 5 13.0
15 exudative vitreoretinopathy 3 12.9
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 TSPAN12 NDP FZD4
23 eye degenerative disease 10.5 TSPAN12 NDP FZD4 ABCA4
24 microcephaly 10.4
25 peripheral retinal degeneration 10.4 ZNF408 TSPAN12 ABCA4
26 retinal disease 10.4
27 macular holes 10.4
28 retinoblastoma 10.3
29 myopia 10.3
30 familial retinoblastoma 10.3
31 eye disease 10.3
32 vitreous detachment 10.3
33 osteoporosis 10.3
34 intraocular pressure quantitative trait locus 10.3
35 bone mineral density quantitative trait locus 8 10.3
36 bone mineral density quantitative trait locus 15 10.3
37 suppression amblyopia 10.3
38 amblyopia 10.3
39 telangiectasis 10.3
40 uveitis 10.3
41 vascular disease 10.3
42 macular retinal edema 10.3
43 cataract 10.3
44 inherited retinal disorder 10.3
45 schizophrenia 19 10.3 FZD8 FZD5
46 coloboma of macula 10.2
47 strabismus 10.2
48 digeorge syndrome 10.2
49 vitreoretinopathy, neovascular inflammatory 10.2
50 retinitis pigmentosa 10.2

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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MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 ABCA4 ATOH7 CTNNB1 FZD1 FZD4 FZD5
2 embryo MP:0005380 10.02 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
3 nervous system MP:0003631 10 ABCA4 ATOH7 CTNNB1 FZD1 FZD4 FZD5
4 hearing/vestibular/ear MP:0005377 9.8 CTNNB1 FZD1 FZD4 FZD6 NDP TSPAN12
5 normal MP:0002873 9.76 ATOH7 CTNNB1 FZD1 FZD4 FZD6 FZD8
6 pigmentation MP:0001186 9.5 ABCA4 CTNNB1 FZD1 FZD4 FZD7 LRP5
7 vision/eye MP:0005391 9.28 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 18)
# 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
Pyrimethamine Approved, Investigational, Vet_approved 58-14-0 4993
4
Sulfadoxine Approved, Investigational 2447-57-6 17134
5
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
6 Folic Acid Antagonists
7 Renal Agents
8 Vitamin B Complex
9 Chloroquine diphosphate 50-63-5
10 Folate
11 Antirheumatic Agents
12 Antimalarials
13 Fanasil, pyrimethamine drug combination
14 Anti-Infective Agents, Urinary
15 Anti-Infective Agents
16 Antiparasitic Agents
17 Antiprotozoal Agents
18 Vitamin B9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Familial Exudative Vitreoretinopathy Clinical and Molecular Studies Completed NCT00106756
2 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, Endothelial, Brain, Cerebellum, Testes
Sources

Publications for Exudative Vitreoretinopathy

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Articles related to Exudative Vitreoretinopathy:

(show top 50) (show all 396)
# Title Authors PMID Year
1
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature. 61 6
29982478 2018
2
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. 6 61
23716654 2013
3
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). 61 6
22427576 2012
4
Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. 6 61
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. 61 6
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 61 6
20301326 2005
9
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. 6 61
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 61 6
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. 6 61
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. 6 61
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. 61 6
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
MACULAR HOLE IN A YOUNG PATIENT AFFECTED BY FAMILIAL EXUDATIVE VITREORETINOPATHY. 61
28850050 2020
24
A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family. 61
31821093 2019
25
Frizzled 4 regulates ventral blood vessel remodeling in the zebrafish retina. 61
31566834 2019
26
Retinal Vascular Abnormalities in Phakomatosis Pigmentovascularis. 61
31420298 2019
27
Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy. 61
31748531 2019
28
Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families. 61
31765079 2019
29
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. 61
31077665 2019
30
Role of blue fundus autofluorescence imaging in differentiating Coats disease from familial exudative vitreoretinopathy. 61
31729069 2019
31
FEVR phenotype associated with septo-optic dysplasia. 61
31755341 2019
32
Asymptomatic adults in a single family with familial exudative vitreoretinopathy and TSPAN12 variant. 61
31755339 2019
33
Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy. 61
31513438 2019
34
A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy. 61
31452356 2019
35
Bilateral Release of Falciform Retrolental Adhesion by Scleral Buckling in Familial Exudative Vitreoretinopathy. 61
31589759 2019
36
Early vitrectomy to reverse macular dragging in a one-month-old boy with familial exudative vitreoretinopathy. 61
31294129 2019
37
Symmetry of folds in FEVR: A genotype-phenotype correlation study. 61
31299183 2019
38
Genetic variants of TSPAN12 gene in patients with retinopathy of prematurity. 61
31009104 2019
39
ETIOLOGY AND CLINICAL CHARACTERISTICS OF MACULAR EDEMA IN PATIENTS WITH FAMILIAL EXUDATIVE VITREORETINOPATHY. 61
31404032 2019
40
Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy. 61
31273345 2019
41
Correlating Changes in the Macular Microvasculature and Capillary Network to Peripheral Vascular Pathologic Features in Familial Exudative Vitreoretinopathy. 61
31277801 2019
42
Diagnosis and Management of Familial Exudative Vitreoretinopathy: A Lifelong, Progressive, and Often Asymmetric Disease. 61
31169868 2019
43
Next-Generation Sequencing in the Familial Exudative Vitreoretinopathy-Associated Rhegmatogenous Retinal Detachment. 61
31237656 2019
44
Diagnosis of complicated FEVR preoperatively and intra-/post-operatively: characteristics and risk factors for diagnostic timing. 61
31176357 2019
45
Clinical and Genetic Features of Familial Exudative Vitreoretinopathy With Only-Unilateral Abnormalities in a Chinese Cohort. 61
31169861 2019
46
Ultra-widefield fundus fluorescein angiography in pediatric retinal vascular diseases. 61
31124488 2019
47
Wnt Signaling in vascular eye diseases. 61
30513356 2019
48
Macular Microvascular Findings in Familial Exudative Vitreoretinopathy on Optical Coherence Tomography Angiography. 61
31100165 2019
49
Mirror image of familial exudative vitreoretinopathy in identical twins. 61
29492729 2019
50
Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution. 61
30988181 2019
Sources

Variations for Exudative Vitreoretinopathy

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ClinVar genetic disease variations for Exudative Vitreoretinopathy:

6 (show top 50) (show all 125) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRP5 NM_002335.4(LRP5):c.4488+2T>GSNV Pathogenic 6287 rs80358322 11:68207386-68207386 11:68439918-68439918
2 FZD4 NM_012193.4(FZD4):c.1278_1281GACA[1] (p.Asp428fs)short repeat Pathogenic 224625 rs80358295 11:86662513-86662516 11:86951471-86951474
3 FZD4 NM_012193.4(FZD4):c.313A>G (p.Met105Val)SNV Pathogenic 224624 rs80358284 11:86663485-86663485 11:86952443-86952443
4 RCBTB1 NM_018191.4(RCBTB1):c.1172+1G>ASNV Likely pathogenic 224621 rs869312819 13:50118872-50118872 13:49544736-49544736
5 TSPAN12 NM_012338.4(TSPAN12):c.225_227del (p.Ile76del)deletion Likely pathogenic 437962 rs1171910750 7:120478889-120478891 7:120838835-120838837
6 LRP5 NM_002335.4(LRP5):c.1265C>T (p.Ala422Val)SNV Likely pathogenic 437991 rs761919591 11:68154033-68154033 11:68386565-68386565
7 LRP5 NM_002335.4(LRP5):c.3242T>G (p.Leu1081Arg)SNV Likely pathogenic 437992 rs1308485193 11:68192575-68192575 11:68425107-68425107
8 FZD4 NM_012193.4(FZD4):c.*2181C>TSNV Uncertain significance 306378 rs886048728 11:86660003-86660003 11:86948961-86948961
9 FZD4 NM_012193.4(FZD4):c.*154C>TSNV Uncertain significance 306398 rs886048732 11:86662030-86662030 11:86950988-86950988
10 FZD4 NM_012193.4(FZD4):c.*6G>ASNV Uncertain significance 306400 rs886048733 11:86662178-86662178 11:86951136-86951136
11 FZD4 NM_012193.4(FZD4):c.1541C>T (p.Ser514Phe)SNV Uncertain significance 306403 rs886048734 11:86662257-86662257 11:86951215-86951215
12 FZD4 NM_012193.4(FZD4):c.-255G>TSNV Uncertain significance 306413 rs886048737 11:86666382-86666382 11:86955340-86955340
13 FZD4 NM_012193.4(FZD4):c.1517A>G (p.Lys506Arg)SNV Uncertain significance 306404 rs769786110 11:86662281-86662281 11:86951239-86951239
14 FZD4 NM_012193.4(FZD4):c.*4083A>CSNV Uncertain significance 306343 rs886048719 11:86658101-86658101 11:86947059-86947059
15 FZD4 NM_012193.4(FZD4):c.*3909_*3912TTTG[7]short repeat Uncertain significance 306349 rs34325935 11:86658244-86658247 11:86947202-86947205
16 FZD4 NM_012193.4(FZD4):c.*3909_*3912TTTG[5]short repeat Uncertain significance 306351 rs34325935 11:86658244-86658255 11:86947202-86947213
17 FZD4 NM_012193.4(FZD4):c.*2517A>GSNV Uncertain significance 306375 rs556412849 11:86659667-86659667 11:86948625-86948625
18 FZD4 NM_012193.4(FZD4):c.*2150A>CSNV Uncertain significance 306379 rs759211275 11:86660034-86660034 11:86948992-86948992
19 FZD4 NM_012193.4(FZD4):c.*3197C>GSNV Uncertain significance 306362 rs752566671 11:86658987-86658987 11:86947945-86947945
20 FZD4 NM_012193.4(FZD4):c.*2779A>CSNV Uncertain significance 306368 rs755224013 11:86659405-86659405 11:86948363-86948363
21 FZD4 NM_012193.4(FZD4):c.-130C>TSNV Uncertain significance 306411 rs544568108 11:86666257-86666257 11:86955215-86955215
22 FZD4 NM_012193.4(FZD4):c.-252C>TSNV Uncertain significance 306412 rs886048736 11:86666379-86666379 11:86955337-86955337
23 FZD4 NM_012193.4(FZD4):c.*4518C>GSNV Uncertain significance 306337 rs542033644 11:86657666-86657666 11:86946624-86946624
24 FZD4 NM_012193.4(FZD4):c.*4018T>CSNV Uncertain significance 306347 rs749571309 11:86658166-86658166 11:86947124-86947124
25 FZD4 NM_012193.4(FZD4):c.*3060deldeletion Uncertain significance 306363 rs372319612 11:86659124-86659124 11:86948082-86948082
26 FZD4 NM_012193.4(FZD4):c.*2818G>ASNV Uncertain significance 306367 rs886048726 11:86659366-86659366 11:86948324-86948324
27 NDP NM_000266.4(NDP):c.-77A>GSNV Uncertain significance 224623 rs869312820 X:43817968-43817968 X:43958722-43958722
28 TSPAN12 NM_012338.4(TSPAN12):c.*553C>GSNV Uncertain significance 358756 rs886061956 7:120428093-120428093 7:120788039-120788039
29 TSPAN12 NM_012338.4(TSPAN12):c.*40T>CSNV Uncertain significance 358759 rs375824224 7:120428606-120428606 7:120788552-120788552
30 TSPAN12 NM_012338.4(TSPAN12):c.304G>T (p.Val102Phe)SNV Uncertain significance 358764 rs777946907 7:120455839-120455839 7:120815785-120815785
31 TSPAN12 NM_012338.4(TSPAN12):c.-102G>ASNV Uncertain significance 358766 rs886061959 7:120497905-120497905 7:120857851-120857851
32 TSPAN12 NM_012338.4(TSPAN12):c.-246T>GSNV Uncertain significance 358769 rs545477642 7:120498049-120498049 7:120857995-120857995
33 TSPAN12 NM_012338.4(TSPAN12):c.-251deldeletion Uncertain significance 358771 rs561967326 7:120498054-120498054 7:120858000-120858000
34 TSPAN12 NM_012338.4(TSPAN12):c.-251dupduplication Uncertain significance 358770 rs561967326 7:120498054-120498054 7:120858000-120858000
35 TSPAN12 NM_012338.4(TSPAN12):c.-43G>ASNV Uncertain significance 358765 rs377745738 7:120496860-120496860 7:120856806-120856806
36 TSPAN12 NM_012338.4(TSPAN12):c.-314G>TSNV Uncertain significance 358772 rs886061963 7:120498117-120498117 7:120858063-120858063
37 TSPAN12 NM_012338.4(TSPAN12):c.*103C>ASNV Uncertain significance 358758 rs886061957 7:120428543-120428543 7:120788489-120788489
38 TSPAN12 NM_012338.4(TSPAN12):c.457T>C (p.Phe153Leu)SNV Uncertain significance 358761 rs886061958 7:120450528-120450528 7:120810474-120810474
39 TSPAN12 NM_012338.4(TSPAN12):c.-214G>ASNV Uncertain significance 358767 rs886061960 7:120498017-120498017 7:120857963-120857963
40 TSPAN12 NM_012338.4(TSPAN12):c.-245dupduplication Uncertain significance 358768 rs886061961 7:120498048-120498048 7:120857994-120857994
41 FZD4 NM_012193.4(FZD4):c.*5250deldeletion Uncertain significance 306328 rs886048715 11:86656934-86656934 11:86945892-86945892
42 FZD4 NM_012193.4(FZD4):c.*3909_*3912TTTG[9]short repeat Uncertain significance 306348 rs34325935 11:86658244-86658247 11:86947202-86947205
43 FZD4 NM_012193.4(FZD4):c.*345A>GSNV Uncertain significance 306396 rs886048731 11:86661839-86661839 11:86950797-86950797
44 FZD4 NM_012193.4(FZD4):c.*3909_*3912TTTG[6]short repeat Uncertain significance 306350 rs34325935 11:86658244-86658251 11:86947202-86947209
45 FZD4 NM_012193.4(FZD4):c.*3792A>TSNV Uncertain significance 306355 rs886048722 11:86658392-86658392 11:86947350-86947350
46 FZD4 NM_012193.4(FZD4):c.*3746C>TSNV Uncertain significance 306357 rs886048723 11:86658438-86658438 11:86947396-86947396
47 FZD4 NM_012193.4(FZD4):c.*3479C>GSNV Uncertain significance 306360 rs886048724 11:86658705-86658705 11:86947663-86947663
48 FZD4 NM_012193.4(FZD4):c.*3042A>GSNV Uncertain significance 306364 rs886048725 11:86659142-86659142 11:86948100-86948100
49 FZD4 NM_012193.4(FZD4):c.*2956_*2960delinsAGTTAAAAGCindel Uncertain significance 306366 rs386755834 11:86659224-86659228 11:86948182-86948186
50 FZD4 NM_012193.4(FZD4):c.*2619T>CSNV Uncertain significance 306372 rs886048727 11:86659565-86659565 11:86948523-86948523
Sources

Expression for Exudative Vitreoretinopathy

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

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 34)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.78 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
2
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.29 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
3
PI3K-Akt signaling pathway 36
Show member pathways
 13.06 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
4
Aldosterone synthesis and secretion 36
Show member pathways
 12.99 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
5
Signaling by Wnt 65
Show member pathways
 12.98 LRP5 FZD8 FZD7 FZD6 FZD5 FZD4
6
Pathways in cancer 36
12.96 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
7
Gastric cancer 36
Show member pathways
 12.88 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
8
Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling 64
Show member pathways
 12.67 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
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
 12.63 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
11
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.59 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
12
WNT Signaling 63
12.56 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
13
Presynaptic function of Kainate receptors 65
Show member pathways
 12.54 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
14
Proteoglycans in cancer 36
12.45 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
15
Mesodermal Commitment Pathway 1
Show member pathways
 12.44 FZD8 FZD5 FZD4 CTNNB1
16
Hippo signaling pathway 36
12.28 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
17
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 12.24 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
18
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.23 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
19
Wnt / Hedgehog / Notch 4
12.21 LRP5 FZD6 FZD5 CTNNB1
20
Presenilin-Mediated Signaling 63
12.21 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
21
Signaling pathways regulating pluripotency of stem cells 36
12.18 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
22
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 12.14 FZD9 FZD5 FZD4 FZD1
23
Colorectal Cancer Metastasis 63
12.13 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
24
Ectoderm Differentiation 1
12.11 FZD8 FZD5 FZD4 CTNNB1
25
G12-G13 in Cellular Signaling 63
12.1 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
26
Glioblastoma Multiforme 63
12.02 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
27
Reelin Pathway (Cajal-Retzius cells) 63
11.81 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
28
Non-Canonical Wnt Pathway 66
11.77 FZD9 FZD5 FZD4 FZD1 CTNNB1
29
P38 MAPK Signaling Pathway (sino) 66
11.73 FZD9 FZD5 FZD4 FZD1
30
Regulation of FZD by ubiquitination 65
Show member pathways
 11.47 LRP5 FZD8 FZD6 FZD5 FZD4
31
Association Between Physico-Chemical Features and Toxicity Associated Pathways 1
11.39 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
32
Wnt/beta-catenin Signaling Pathway in Leukemia 1
11.19 LRP5 FZD6 CTNNB1
33
Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds 1
11.16 FZD8 FZD7 FZD1 CTNNB1
34
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 cell surface GO:0009986 9.63 NDP FZD9 FZD6 FZD5 FZD4 FZD1
2 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.96 LRP5 FZD8
3 Wnt signalosome GO:1990909 8.8 LRP5 FZD1 CTNNB1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 10.12 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
2 multicellular organism development GO:0007275 10.11 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
3 positive regulation of transcription, DNA-templated GO:0045893 10.01 NDP LRP5 FZD7 FZD4 FZD1 CTNNB1
4 cell surface receptor signaling pathway GO:0007166 9.86 TSPAN12 FZD9 FZD8 FZD7 FZD6 FZD5
5 positive regulation of DNA-binding transcription factor activity GO:0051091 9.8 NDP FZD4 FZD1 CTNNB1
6 neuron differentiation GO:0030182 9.8 FZD8 FZD7 FZD5 FZD4 FZD1 CTNNB1
7 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.77 FZD7 FZD6 FZD5 FZD4 FZD1
8 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.73 FZD6 FZD5 FZD4 CTNNB1
9 T cell differentiation in thymus GO:0033077 9.71 FZD8 FZD7 FZD5 CTNNB1
10 positive regulation of JUN kinase activity GO:0043507 9.7 FZD8 FZD5 FZD4
11 non-canonical Wnt signaling pathway GO:0035567 9.7 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
12 beta-catenin destruction complex disassembly GO:1904886 9.65 FZD5 FZD1 CTNNB1
13 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 LRP5 CTNNB1
14 positive regulation of neural precursor cell proliferation GO:2000179 9.61 FZD9 CTNNB1
15 canonical Wnt signaling pathway GO:0060070 9.61 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
16 negative regulation of cell-substrate adhesion GO:0010812 9.6 FZD7 FZD4
17 gastrulation with mouth forming second GO:0001702 9.59 LRP5 CTNNB1
18 negative regulation of oxidative stress-induced neuron death GO:1903204 9.58 FZD1 CTNNB1
19 embryonic axis specification GO:0000578 9.57 FZD5 CTNNB1
20 retinal blood vessel morphogenesis GO:0061304 9.56 LRP5 FZD4
21 retina vasculature morphogenesis in camera-type eye GO:0061299 9.55 NDP FZD4
22 extracellular matrix-cell signaling GO:0035426 9.51 NDP FZD4
23 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 9.63 FZD9 FZD8 FZD6 FZD5 FZD4 FZD1
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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