ROP
MCID: EXD001
MIFTS: 58

Exudative Vitreoretinopathy (ROP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Exudative Vitreoretinopathy

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NIH Rare Diseases:42 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. last updated: 3/4/2011

MalaCards based summary: Exudative Vitreoretinopathy, also known as familial exudative vitreoretinopathy, is related to norrie disease and familial exudative vitreoretinopathy, autosomal dominant. An important gene associated with Exudative Vitreoretinopathy is NDP (Norrie disease (pseudoglioma)), and among its related pathways are MicroRNAs in cardiomyocyte hypertrophy and Wnt / Hedgehog / Notch. The compound calcium have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

Disease Ontology:8 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.

Genetics Home Reference:21 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.

Wikipedia:65 Familial exudative vitreoretinopathy (FEVR) (pronounced \"fever\") is a genetic eye disorder affecting... more...

Descriptions from OMIM:46 605750,305390,601813,613310,133780

Aliases & Classifications for Exudative Vitreoretinopathy

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 62UMLS, 46OMIM, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Exudative Vitreoretinopathy, Aliases & Descriptions:

Name: Exudative Vitreoretinopathy 8 9 10
Familial Exudative Vitreoretinopathy 8 42 21 48
Fevr 8 42 21 48
Exudative Vitreoretinopathy, Familial 42 20 22
Criswick-Schepens Syndrome 42 48
 
Retinopathy of Prematurity 48 62
Retrolental Fibroplasia 48 62
Rop 48 62
Exudative Vitreoretinopathy 1 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
familial exudative vitreoretinopathy:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal/infancy; Age of death: Any age
retinopathy of prematurity:
Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:0050535
ICD9CM27 362.10
MESH via Orphanet35 C536382, D012178
ICD10 via Orphanet26 H35.0, H35.1
UMLS via Orphanet63 C0339539, C1851402, C0035344

Related Diseases for Exudative Vitreoretinopathy

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Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 5 Exudative Vitreoretinopathy 3
Exudative Vitreoretinopathy 4 Exudative Vitreoretinopathy 1

Diseases related to Exudative Vitreoretinopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1norrie disease31.4LRP5, NDP
2familial exudative vitreoretinopathy, autosomal dominant31.0LRP5, FZD4
3retinal detachment31.0NDP, IKBKG, FZD4
4osteoporosis-pseudoglioma syndrome30.9LRP5
5retinopathy of prematurity30.6NDP, IKBKG, FZD4, TSPAN12
6coats disease30.4TSPAN12, IKBKG, NDP
7endotheliitis10.8
8retinitis10.8
9x-linked familial exudative vitreoretinopathy10.7
10blindness10.6
11exudative vitreoretinopathy 510.5
12exudative vitreoretinopathy 410.5
13exudative vitreoretinopathy 110.5
14refractive error10.5
15skin hemangioma10.5
16choroiditis10.5
17exudative vitreoretinopathy 310.4
18exudative vitreoretinopathy 2, x-linked10.4
19retinoblastoma10.4
20bronchopulmonary dysplasia10.3
21twin twin transfusion syndrome10.3
22osteoporosis10.3
23digeorge syndrome10.3
24myopia10.3
25lrp5-related familial exudative vitreoretinopathy, autosomal recessive10.3
26fzd4-related familial exudative vitreoretinopathy, autosomal dominant10.3
27lrp5-related familial exudative vitreoretinopathy, autosomal dominant10.3
28tspan12-related familial exudative vitreoretinopathy, autosomal dominant10.3
29bilateral retinoblastoma10.3
30cystoid macular edema10.3
31hyperglycemia10.3
32retinal disease10.3
33strabismus10.3
34ndp-related retinopathy of prematurity10.3
35hypoxia10.3
36bacteremia10.3
37ileus10.3
38cataract10.2
39cystic fibrosis10.2
40lymphedema10.2
41primary open angle glaucoma10.2
42macular holes10.2
43anisometropia10.2
44microcephaly10.2
45astigmatism10.2
46chorioretinitis10.2
47open-angle glaucoma10.2
48cutis marmorata telangiectatica congenita10.2
49persistent hyperplastic primary vitreous10.2
50osteopetrosis10.1IKBKG, LRP5

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



Diseases related to exudative vitreoretinopathy

Symptoms for Exudative Vitreoretinopathy

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Clinical features from OMIM:

605750,305390,601813,613310,133780

Drugs & Therapeutics for Exudative Vitreoretinopathy

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Drug clinical trials:

Search ClinicalTrials for Exudative Vitreoretinopathy

Search NIH Clinical Center for Exudative Vitreoretinopathy

Genetic Tests for Exudative Vitreoretinopathy

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Genetic tests related to Exudative Vitreoretinopathy:

id Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy20 22 NDP

Anatomical Context for Exudative Vitreoretinopathy

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MalaCards organs/tissues related to Exudative Vitreoretinopathy:

32
Retina, Eye

Animal Models for Exudative Vitreoretinopathy or affiliated genes

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MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3FZD4, FZD6, NDP, FZD1, TSPAN12
2MP:00053918.9NDP, FZD6, FZD4, FZD5, TSPAN12, LRP5
3MP:00053798.7IKBKG, FZD1, FZD4, FZD5, LRP5
4MP:00011868.7IKBKG, LRP5, NDP, FZD1, FZD4, FZD7
5MP:00053868.6NDP, FZD5, FZD4, IKBKG, FZD9, LRP5
6MP:00028738.5LRP5, FZD8, FZD4, IKBKG, FZD1, FZD6
7MP:00053818.5FZD5, FZD7, FZD4, FZD1, IKBKG
8MP:00053808.4FZD7, FZD6, FZD1, FZD5, LRP5, FZD4
9MP:00107718.3IKBKG, FZD1, FZD6, FZD4, FZD7
10MP:00053857.9FZD1, NDP, FZD4, FZD5, IKBKG, FZD7
11MP:00036317.9FZD9, FZD4, NDP, FZD5, FZD7, FZD6
12MP:00107687.4FZD4, FZD5, FZD7, FZD6, LRP5, IKBKG

Publications for Exudative Vitreoretinopathy

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Articles related to Exudative Vitreoretinopathy:

(show top 50)    (show all 141)
idTitleAuthorsYear
1
Familial exudative vitreoretinopathy mimicking macular telangiectasia type 1. (24513378)
2014
2
Diversity of Retinal Vascular Anomalies in Patients with Familial Exudative Vitreoretinopathy. (25005911)
2014
3
Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy. (24715757)
2014
4
Familial exudative vitreoretinopathy and related retinopathies. (25323851)
2014
5
Vitreomacular interface in patients with familial exudative vitreoretinopathy. (23334617)
2013
6
Simultaneous fzd4 and lrp5 mutation in autosomal dominant familial exudative vitreoretinopathy. (25390515)
2013
7
Asymmetric presentations of familial exudative vitreoretinopathy. (24082676)
2013
8
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant. (23834558)
2013
9
Familial exudative vitreoretinopathy presenting with unilateral rhegmatogenous retinal detachment in a Malay teenager. (23645703)
2013
10
Familial exudative vitreoretinopathy in a premature child. (24144178)
2013
11
Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease. (22563645)
2012
12
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). (22427576)
2012
13
Clinical characteristics and surgical management of familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment. (22277905)
2012
14
A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy. (21960066)
2011
15
Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes. (21552475)
2011
16
An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy. (21177847)
2011
17
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. (20159111)
2010
18
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy. (20491809)
2010
19
Treatment of vascularly active familial exudative vitreoretinopathy with pegaptanib sodium (Macugen). (18317351)
2008
20
Rapid regression of retinal hemorrhage and neovascularization in a case of familial exudative vitreoretinopathy treated with intravitreal bevacizumab. (18795314)
2008
21
Novel human pathological mutations. Gene symbol: FZD4. Disease: exudative vitreoretinopathy. (18350654)
2007
22
Familial exudative vitreoretinopathy and macular hole exhibited in same individual. (17564927)
2007
23
Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene. (18161623)
2007
24
Novel human pathological mutations. Gene symbol: FZD4. Disease: familial exudative vitreoretinopathy. (17879448)
2007
25
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. (15981244)
2005
26
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. (15733276)
2005
27
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. (15665352)
2005
28
Progression of familial exudative vitreoretinopathy after laser treatment. (15534139)
2004
29
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. (15488808)
2004
30
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. (15223780)
2004
31
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. (15024691)
2004
32
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. (12172548)
2002
33
Familial exudative vitreoretinopathy associated with monocular axial myopia. (10380037)
1999
34
Familial exudative vitreoretinopathy. Results of surgical management. (9627651)
1998
35
Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. (9299244)
1997
36
Familial exudative vitreoretinopathy associated with nonneovascular chronic angle-closure glaucoma. (9075081)
1997
37
Ocular findings in cutis marmorata telangiectatica congenita. Bilateral exudative vitreoretinopathy. (9279946)
1997
38
X-linked familial exudative vitreoretinopathy. Report of one family. (7624602)
1995
39
Familial Exudative Vitreoretinopathy, Autosomal Dominant (20301326)
1993
40
X-linked familial exudative vitreoretinopathy (FEVR): results of DNA analysis with candidate genes. (8418643)
1993
41
Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. (1985487)
1991
42
Optic disc neovascularization in dominant exudative vitreoretinopathy. (2483463)
1989
43
Criswick-Schepens syndrome (familial exudative vitreoretinopathy). Study of a Colombian kindred. (6487118)
1984
44
Similarity of familial exudative vitreoretinopathy and retinopathy of prematurity. (6687800)
1983
45
Falciform retinal fold as sign of familial exudative vitreoretinopathy. (6855020)
1983
46
Retinal involvement in familial exudative vitreoretinopathy. (7133626)
1982
47
Familial exudative vitreoretinopathy. (7342402)
1981
48
Congenital retinal fold as a sign of dominant exudative vitreoretinopathy. (6911005)
1981
49
Familial exudative vitreoretinopathy. (434067)
1979
50
Familial exudative vitreoretinopathy. (5394449)
1969

Variations for Exudative Vitreoretinopathy

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Clinvar genetic disease variations for Exudative Vitreoretinopathy:

6 (show all 20)
id Gene Name Type Significance SNP ID Assembly Location
1NDPNM_000266.3(NDP): c.370C> T (p.Leu124Phe)single nucleotide variantPathogenicrs28933684GRCh37Chr X, 43809077: 43809077
2NDPNM_000266.3(NDP): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs104894878GRCh37Chr X, 43809086: 43809086
3NDPNM_000266.3(NDP): c.328T> G (p.Cys110Gly)single nucleotide variantPathogenicrs104894876GRCh37Chr X, 43809119: 43809119
4NDPNM_000266.3(NDP): c.362G> T (p.Arg121Leu)single nucleotide variantPathogenicrs137852220GRCh37Chr X, 43809085: 43809085
5TSPAN12NM_012338.3(TSPAN12): c.413A> G (p.Tyr138Cys)single nucleotide variantPathogenicGRCh37Chr 7, 120450572: 120450572
6TSPAN12NM_012338.3(TSPAN12): c.67-1G> Csingle nucleotide variantPathogenicGRCh37Chr 7, 120480164: 120480164
7TSPAN12NM_012338.3(TSPAN12): c.146C> T (p.Thr49Met)single nucleotide variantPathogenicGRCh37Chr 7, 120480084: 120480084
8TSPAN12NM_012338.3(TSPAN12): c.285+1G> Asingle nucleotide variantPathogenicGRCh37Chr 7, 120478830: 120478830
9TSPAN12NM_012338.3(TSPAN12): c.734T> C (p.Leu245Pro)single nucleotide variantPathogenicrs200519776GRCh37Chr 7, 120428830: 120428830
10TSPAN12NM_012338.3(TSPAN12): c.709G> C (p.Ala237Pro)single nucleotide variantPathogenicrs267607154GRCh37Chr 7, 120428855: 120428855
11TSPAN12NM_012338.3(TSPAN12): c.562G> C (p.Gly188Arg)single nucleotide variantPathogenicrs267607151GRCh37Chr 7, 120446653: 120446653
12TSPAN12TSPAN12, 7-BP INS, NT218insertionPathogenic
13TSPAN12NM_012338.3(TSPAN12): c.419T> A (p.Leu140Ter)single nucleotide variantPathogenicrs267607153GRCh37Chr 7, 120450566: 120450566
14TSPAN12TSPAN12, IVS5AS, 5-BP DEL, NT361-1deletionPathogenic
15TSPAN12NM_012338.3(TSPAN12): c.302T> A (p.Leu101His)single nucleotide variantPathogenicrs267607152GRCh37Chr 7, 120455841: 120455841
16FZD4NM_012193.3(FZD4): c.1479_1484delGTGGAT (p.Met493_Trp494del)deletionPathogenicrs80358301GRCh37Chr 11, 86662314: 86662319
17FZD4NM_012193.3(FZD4): c.1501_1502delCT (p.Leu501Serfs)deletionPathogenicrs80358303GRCh37Chr 11, 86662296: 86662297
18FZD4NM_012193.3(FZD4): c.1250G> A (p.Arg417Gln)single nucleotide variantPathogenicrs80358294GRCh37Chr 11, 86662548: 86662548
19FZD4NM_012193.3(FZD4): c.1024A> G (p.Met342Val)single nucleotide variantPathogenicrs80358293GRCh37Chr 11, 86662774: 86662774
20FZD4NM_012193.3(FZD4): c.1005G> C (p.Trp335Cys)single nucleotide variantPathogenicrs80358292GRCh37Chr 11, 86662793: 86662793

Expression for genes affiliated with Exudative Vitreoretinopathy

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Expression patterns in normal tissues for genes affiliated with Exudative Vitreoretinopathy

Search GEO for disease gene expression data for Exudative Vitreoretinopathy.

Pathways for genes affiliated with Exudative Vitreoretinopathy

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Pathways related to Exudative Vitreoretinopathy according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5IKBKG, FZD1, LRP5
29.4FZD6, FZD5, LRP5
3
Show member pathways
9.2FZD5, FZD4, FZD9, FZD1
4
Show member pathways
8.0FZD4, FZD6, FZD1, FZD8, FZD5, FZD7
5
Show member pathways
7.7FZD8, FZD4, FZD5, FZD6, FZD9, FZD1
67.7FZD1, FZD9, FZD8, FZD7, FZD5, FZD4
7
Show member pathways
7.7FZD9, FZD1, FZD6, FZD4, FZD5, FZD7
8
Show member pathways
7.7FZD9, FZD7, FZD5, FZD4, FZD6, FZD8
9
Show member pathways
7.7FZD1, FZD9, FZD6, FZD4, FZD7, FZD8
107.7FZD8, FZD7, FZD5, FZD4, FZD6, FZD1
11
Show member pathways
7.7FZD9, FZD7, FZD1, FZD5, FZD6, FZD4
127.7FZD8, FZD7, FZD5, FZD4, FZD9, FZD1
137.7FZD1, FZD9, FZD7, FZD6, FZD4, FZD5
14
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
7.7FZD1, FZD7, FZD9, FZD6, FZD5, FZD4
15
Show member pathways
7.7FZD7, FZD1, FZD9, FZD4, FZD6, FZD8
16
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
7.6FZD8, FZD7, FZD5, FZD4, FZD6, FZD1
177.4FZD4, LRP5, FZD7, FZD1, FZD9, FZD8
18
Show member pathways
Wnt Signaling Pathway NetPath37
7.4FZD4, FZD1, FZD9, FZD6, FZD7, FZD8
197.4LRP5, FZD8, FZD7, FZD5, FZD4, FZD6
20
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
7.4FZD5, LRP5, FZD8, FZD1, FZD7, FZD6
21
Show member pathways
7.4FZD7, FZD5, FZD6, FZD9, FZD4, FZD1
227.4LRP5, FZD1, FZD9, FZD6, FZD4, FZD5
237.4LRP5, FZD1, FZD9, FZD6, FZD4, FZD5
247.3FZD9, FZD5, FZD1, IKBKG, FZD6, FZD4
257.3FZD6, IKBKG, FZD7, FZD8, FZD5, FZD4
267.3FZD8, FZD7, FZD5, FZD4, FZD6, FZD9

Compounds for genes affiliated with Exudative Vitreoretinopathy

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Sources:
44Novoseek, 50PharmGKB, 24HMDB, 11DrugBank
See all sources

Compounds related to Exudative Vitreoretinopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium44 50 24 1110.0IKBKG, FZD1, FZD9, FZD6, FZD4, FZD5

GO Terms for genes affiliated with Exudative Vitreoretinopathy

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Cellular components related to Exudative Vitreoretinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1clathrin-coated endocytic vesicle membraneGO:0306699.5FZD5, FZD4
2neuron projection membraneGO:0325899.4FZD1, FZD6, FZD7
3cell projectionGO:0429959.3FZD4, FZD5, FZD8
4apical part of cellGO:0451779.2FZD7, FZD6, FZD1
5cell surfaceGO:0099869.1FZD5, FZD4, FZD9, FZD1, NDP
6integral component of membraneGO:0160217.7FZD1, FZD9, FZD5, FZD7, FZD8, TSPAN12
7cytoplasmGO:0057377.2FZD8, FZD7, FZD5, FZD4, FZD6, FZD9
8plasma membraneGO:0058866.7GORASP2, LRP5, FZD8, FZD7, FZD5, FZD4

Biological processes related to Exudative Vitreoretinopathy according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1retina vasculature morphogenesis in camera-type eyeGO:06129910.2FZD4, NDP
2retinal blood vessel morphogenesisGO:06130410.1LRP5, FZD4
3extracellular matrix-cell signalingGO:03542610.0FZD4, LRP5, NDP
4Wnt signaling pathway involved in dorsal/ventral axis specificationGO:04433210.0FZD5, LRP5
5Wnt signaling pathwayGO:0160559.8NDP, LRP5, FZD4
6negative regulation of cell-substrate adhesionGO:0108129.7FZD4, FZD7
7positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.7NDP, FZD1, LRP5, FZD4
8cellular response to retinoic acidGO:0713009.6FZD4, FZD7
9Wnt signaling pathway, calcium modulating pathwayGO:0072239.6FZD1, FZD4, FZD7
10substrate adhesion-dependent cell spreadingGO:0344469.5FZD7, FZD4
11positive regulation of JUN kinase activityGO:0435079.5FZD8, FZD5, FZD4
12G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messengerGO:0071999.5FZD7, FZD1, FZD6
13angiogenesisGO:0015259.4FZD6, TSPAN12, FZD5
14embryo developmentGO:0097909.4FZD1, FZD9, FZD4, FZD8
15T cell differentiation in thymusGO:0330779.1FZD5, FZD7, FZD8
16vasculature developmentGO:0019449.0FZD7, FZD8, FZD1, FZD9
17positive regulation of transcription, DNA-templatedGO:0458939.0LRP5, FZD7, FZD4, FZD1, NDP
18neuron differentiationGO:0301828.6FZD7, FZD1, FZD4, FZD8, FZD5
19positive regulation of transcription from RNA polymerase II promoterGO:0459448.6FZD5, LRP5, FZD8, IKBKG
20axonogenesisGO:0074098.5FZD8, FZD5, FZD1, FZD6, FZD7
21brain developmentGO:0074208.4FZD7, FZD5, FZD1, FZD9, FZD8, FZD4
22gonad developmentGO:0084068.3FZD8, FZD1, FZD9, FZD6, FZD5, FZD7
23canonical Wnt signaling pathwayGO:0600707.9NDP, LRP5, FZD8, FZD7, FZD4, FZD9

Molecular functions related to Exudative Vitreoretinopathy according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428039.3NDP, IKBKG, FZD9, FZD4
2frizzled bindingGO:0051099.0FZD7, FZD1, NDP
3ubiquitin protein ligase bindingGO:0316258.9FZD8, FZD5, FZD4, FZD6
4PDZ domain bindingGO:0301657.8FZD8, FZD7, FZD5, FZD4, FZD6, FZD9
5G-protein coupled receptor activityGO:0049307.7FZD8, FZD7, FZD5, FZD4, FZD6, FZD9
6Wnt-protein bindingGO:0171477.5LRP5, FZD8, FZD7, FZD5, FZD4, FZD6
7Wnt-activated receptor activityGO:0428137.3FZD1, LRP5, FZD9, FZD6, FZD4, FZD5
8protein bindingGO:0055155.9GORASP2, LRP5, FZD8, FZD7, FZD5, FZD4

Products for genes affiliated with Exudative Vitreoretinopathy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Exudative Vitreoretinopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet