FEVR
MCID: EXD001
MIFTS: 52

Exudative Vitreoretinopathy (FEVR) malady

Neuronal, Eye, Genetic categories

Summaries for Exudative Vitreoretinopathy

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: 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 FZD4 (frizzled family receptor 4), and among its related pathways are MicroRNAs in cardiomyocyte hypertrophy and Wnt / Hedgehog / Notch. The compounds maoa and calcium have been mentioned in the context of this disorder. Affiliated tissues include retina, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

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

Description from OMIM:47 601813,305390,613310,133780,605750

Aliases & Classifications for Exudative Vitreoretinopathy

Sources:
49Orphanet, 8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 43NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
familial exudative vitreoretinopathy:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Variable; Age of death: Normal
retinopathy of prematurity:
Prevalence: 1-5/10000


Aliases & Descriptions:

exudative vitreoretinopathy 8 9 47 10
familial exudative vitreoretinopathy 8 43 21 49
exudative vitreoretinopathy, familial 43 20 22
fevr 43 21 49
criswick-schepens syndrome 43 49
exudative vitreoretinopathy 1 61
retinopathy of prematurity 49


External Ids:

Disease Ontology8 DOID:0050535
MESH via Orphanet36 C536382, D012178
ICD10 via Orphanet26 H35.0, H35.1
SNOMED-CT via Orphanet58 232063007, 415297005
UMLS via Orphanet62 C0339539, C1851402, C0035344

Related Diseases for Exudative Vitreoretinopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Exudative Vitreoretinopathy family:

exudative vitreoretinopathy 5 exudative vitreoretinopathy-3
exudative vitreoretinopathy 4

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1norrie disease31.1NDP
2familial exudative vitreoretinopathy, autosomal dominant31.0FZD4, LRP5
3retinopathy of prematurity30.7TSPAN12, IKBKG, FZD4, NDP
4blindness30.7LRP5, NDP
5osteoporosis-pseudoglioma syndrome30.2LRP5
6vascular disease10.4
7lrp5-related familial exudative vitreoretinopathy, autosomal recessive10.4
8x-linked familial exudative vitreoretinopathy10.4
9exudative vitreoretinopathy 510.4
10exudative vitreoretinopathy 410.4
11digeorge syndrome10.3
12osteoporosis10.3
13fzd4-related familial exudative vitreoretinopathy, autosomal dominant10.3
14lrp5-related familial exudative vitreoretinopathy, autosomal dominant10.3
15tspan12-related familial exudative vitreoretinopathy, autosomal dominant10.3
16digeorge syndrome 210.3
17exudative vitreoretinopathy, x-linked10.3
18bilateral retinoblastoma10.3
19bronchopulmonary dysplasia10.3
20ndp-related retinopathy of prematurity10.3
21cystoid macular edema10.2
22strabismus10.2
23twin twin transfusion syndrome10.2
24hypoxia10.2
25bacteremia10.2
26cystic fibrosis10.2
27anisometropia10.2
28coats disease10.2
29primary open angle glaucoma10.2
30astigmatism10.2
31turner syndrome10.2
32cataract-glaucoma10.2
33chromosome 11q deletion10.2
34cutis marmorata telangiectatica congenita10.2
35persistent hyperplastic primary vitreous10.2
36exudative vitreoretinopathy-310.2
37ischemic retinopathy10.1
38periventricular leukomalacia10.1
39paralytic ileus10.1
40familial retinoblastoma10.1
41cycloplegia10.1
42coloboma10.1
43chorioamnionitis10.1
44funisitis10.1
45protein s deficiency10.1
46aicardi syndrome10.1
47macular holes10.1
48cortical blindness10.1
49vitreous detachment10.1
50protein c deficiency10.1

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



Diseases related to exudative vitreoretinopathy

Clinical Features for Exudative Vitreoretinopathy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

601813,305390,613310,133780,605750

Clinical synopsis from OMIM:

133780

Drugs & Therapeutics for Exudative Vitreoretinopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Exudative Vitreoretinopathy

Drug clinical trials:

Search ClinicalTrials for Exudative Vitreoretinopathy

Search NIH Clinical Center for Exudative Vitreoretinopathy

Search CenterWatch for Exudative Vitreoretinopathy

Genetic Tests for Exudative Vitreoretinopathy

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Exudative Vitreoretinopathy:

id Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy20 22 NDP

Anatomical Context for Exudative Vitreoretinopathy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Exudative Vitreoretinopathy:

33
Retina

Animal Models for Exudative Vitreoretinopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Exudative Vitreoretinopathy

Sources:
51PubMed
See all sources

Articles related to Exudative Vitreoretinopathy:

(show top 50)    (show all 132)
idTitleAuthorsYear
1
High Prevalence of Peripheral Retinal Vascular Anomalies in Family Members ofA Patients with Familial Exudative Vitreoretinopathy. (24084499)
2014
2
Vitreomacular interface in patients with familial exudative vitreoretinopathy. (23334617)
2013
3
Asymmetric presentations of familial exudative vitreoretinopathy. (24082676)
2013
4
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant. (23834558)
2013
5
Familial exudative vitreoretinopathy presenting with unilateral rhegmatogenous retinal detachment in a Malay teenager. (23645703)
2013
6
Familial exudative vitreoretinopathy in a premature child. (24144178)
2013
7
Falciform Macular Folds and Chromosome 22q11.2: Evidence in Support of a Locus for Familial Exudative Vitreoretinopathy (FEVR). (23521024)
2013
8
Clinical characteristics and surgical management of familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment. (22277905)
2012
9
Familial exudative vitreoretinopathy with an anterior segment vasoproliferative mass. (21455775)
2012
10
Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy. (23077402)
2012
11
Clinical presentation of familial exudative vitreoretinopathy. (21868098)
2011
12
Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. (21334594)
2011
13
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. (19324841)
2009
14
A rare association of familial exudative vitreoretinopathy and Turner's syndrome. (18825907)
2008
15
A model for familial exudative vitreoretinopathy caused by LPR5 mutations. (18263894)
2008
16
Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. (17955262)
2008
17
Novel human pathological mutations. Gene symbol: FZD4. Disease: exudative vitreoretinopathy. (18350654)
2007
18
Familial exudative vitreoretinopathy and macular hole exhibited in same individual. (17564927)
2007
19
Novel human pathological mutations. Gene symbol: FZD4. Disease: familial exudative vitreoretinopathy. (17879448)
2007
20
Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene. (17353424)
2007
21
The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. (18097984)
2007
22
Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. (17325173)
2007
23
Progression of familial exudative vitreoretinopathy after laser treatment. (15534139)
2004
24
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. (15223780)
2004
25
Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy. (14560311)
2004
26
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). (14737064)
2004
27
Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. (15346351)
2004
28
Familial exudative vitreoretinopathy (FEVR). Clinical profile and management. (14750620)
2003
29
Excessive myopia and anisometropia associated with familial exudative vitreoretinopathy. (12173668)
2002
30
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. (9382152)
1997
31
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. (8946107)
1996
32
Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity. (8832721)
1996
33
X-linked familial exudative vitreoretinopathy. Report of one family. (7624602)
1995
34
Familial exudative vitreoretinopathy. (8719692)
1995
35
Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. (8020986)
1994
36
Familial Exudative Vitreoretinopathy, Autosomal Dominant (20301326)
1993
37
Mapping studies of an X-linked familial exudative vitreoretinopathy. (8099790)
1993
38
Familial exudative vitreoretinopathy (FEVR) and platelet dysfunction. (2751985)
1989
39
Juvenile retinal detachment as a complication of familial exudative vitreoretinopathy. (2759534)
1989
40
Dominant exudative vitreoretinopathy. (4058870)
1985
41
Criswick-Schepens syndrome (familial exudative vitreoretinopathy). Study of a Colombian kindred. (6487118)
1984
42
Autosomal dominant exudative vitreoretinopathy. (6732559)
1984
43
Falciform retinal fold as sign of familial exudative vitreoretinopathy. (6855020)
1983
44
Autosomal dominant exudative vitreoretinopathy. (6626002)
1983
45
Retinal involvement in familial exudative vitreoretinopathy. (7133626)
1982
46
Visual loss from retinal oedema in autosomal dominant exudative vitreoretinopathy. (7115646)
1982
47
Congenital retinal fold as a sign of dominant exudative vitreoretinopathy. (6911005)
1981
48
Autosomal dominant exudative vitreoretinopathy. (7362811)
1980
49
Familial exudative vitreoretinopathy. (6906151)
1980
50
Familial exudative vitreoretinopathy. (434067)
1979

Genetic Variations for Exudative Vitreoretinopathy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Exudative Vitreoretinopathy:

63 (show all 20)
id Symbol AA change Variation SNP ID
1FZD4p.Met105ValVAR_038947
2FZD4p.Met157ValVAR_038948
3FZD4p.Pro33SerVAR_063920rs61735304
4FZD4p.Gly36AspVAR_063921
5FZD4p.Glu40GlnVAR_063922
6FZD4p.His69TyrVAR_063923rs80358282
7FZD4p.Met105ThrVAR_063924
8FZD4p.Ile114ThrVAR_063925
9FZD4p.Cys181ArgVAR_063927
10FZD4p.Cys204ArgVAR_063929
11FZD4p.Cys204TyrVAR_063930
12FZD4p.Met223LysVAR_063931
13FZD4p.Ile256ValVAR_063932
14FZD4p.Trp335CysVAR_063933
15FZD4p.Met342ValVAR_063934
16FZD4p.Arg417GlnVAR_063936
17FZD4p.Thr445ProVAR_063937
18FZD4p.Gly488AspVAR_063938
19FZD4p.Ser497PheVAR_063939
20FZD4p.Gly525ArgVAR_063940

Expression for genes affiliated with Exudative Vitreoretinopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology, 56SinoBiological, 54Reactome, 52QIAGEN, 30KEGG, 60Tocris Bioscience, 12EMD Millipore, 53R&D Systems
See all sources

Pathways related to Exudative Vitreoretinopathy according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7LRP5, IKBKG, FZD1
29.6FZD6, FZD5, LRP5
3
Hide members
9.4FZD1, FZD5, FZD4, FZD9
49.1GORASP2, GORASP1
5
Hide members
8.4FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
6
Hide members
8.4FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
78.4FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
8
Hide members
8.4FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
9
Hide members
8.4FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
10
Hide members
8.4FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
118.4FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
128.4FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
138.4FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
14
Transcription Androgen Receptor nuclear signaling
Hide members
8.4FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
15
Hide members
8.4FZD9, FZD4, FZD5, FZD1, FZD7, FZD8
16
Hide members
8.2FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
178.2FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
188.2FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
198.2FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
20
Hide members
8.2FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
21
Hide members
8.2FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
228.2LRP5, FZD6, FZD8, FZD7, FZD1, FZD5
238.1FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
248.1FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
258.1FZD6, FZD8, FZD7, FZD1, FZD5, FZD4

Compounds for genes affiliated with Exudative Vitreoretinopathy

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
See all sources

Compounds related to Exudative Vitreoretinopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1maoa4510.0MAOA, NDP
2calcium45 50 11 249.6GORASP1, CADPS2, FZD6, FZD8, FZD7, FZD1

GO Terms for genes affiliated with Exudative Vitreoretinopathy

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1neuron projection membraneGO:0325899.6FZD1, FZD7, FZD6
2apical part of cellGO:0451779.6FZD1, FZD7, FZD6
3cell projectionGO:0429959.2FZD4, FZD5, FZD8
4cell surfaceGO:0099869.1NDP, FZD1, FZD5, FZD4, FZD9

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:03542610.3FZD4, NDP
2retinal blood vessel morphogenesisGO:06130410.3LRP5, FZD4
3retina vasculature morphogenesis in camera-type eyeGO:06129910.2FZD4, NDP
4Wnt receptor signaling pathway involved in dorsal/ventral axis specificationGO:04433210.0FZD5, LRP5
5Wnt receptor signaling pathway, calcium modulating pathwayGO:0072239.9FZD7, FZD1, FZD4
6substrate adhesion-dependent cell spreadingGO:0344469.9FZD4, FZD7
7G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messengerGO:0071999.8FZD1, FZD7, FZD6
8positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.8NDP, FZD1, FZD4
9negative regulation of cell-substrate adhesionGO:0108129.8FZD4, FZD7
10positive regulation of JUN kinase activityGO:0435079.8FZD8, FZD5, FZD4
11embryo developmentGO:0097909.7FZD9, FZD4, FZD1, FZD8
12Wnt receptor signaling pathwayGO:0160559.6LRP5, FZD4, NDP
13T cell differentiation in thymusGO:0330779.6FZD5, FZD7, FZD8
14vasculature developmentGO:0019449.6FZD8, FZD7, FZD1, FZD9
15positive regulation of transcription, DNA-dependentGO:0458939.3LRP5, FZD4, FZD1, FZD7, NDP
16neuron differentiationGO:0301829.2FZD4, FZD5, FZD1, FZD7, FZD8
17axonogenesisGO:0074099.1FZD6, FZD8, FZD7, FZD1, FZD5
18brain developmentGO:0074209.0FZD8, FZD7, FZD1, FZD5, FZD4, FZD9
19gonad developmentGO:0084068.9FZD6, FZD8, FZD7, FZD1, FZD5, FZD9
20canonical Wnt receptor signaling pathwayGO:0600708.6LRP5, NDP, FZD8, FZD7, FZD1, FZD5

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase bindingGO:0316259.3FZD4, FZD5, FZD8, FZD6
2PDZ domain bindingGO:0301658.3FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
3Wnt-protein bindingGO:0171478.2FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
4G-protein coupled receptor activityGO:0049308.1FZD6, FZD8, FZD7, FZD1, FZD5, FZD4
5Wnt-activated receptor activityGO:0428138.1TSPAN12, FZD6, LRP5, FZD9, FZD4, FZD5

Products for genes affiliated with Exudative Vitreoretinopathy

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Sources for Exudative Vitreoretinopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet