ROP
MCID: EXD001
MIFTS: 64

Exudative Vitreoretinopathy (ROP) malady

Neuronal diseases, Eye diseases, Genetic diseases categories

Summaries for Exudative Vitreoretinopathy

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Exudative Vitreoretinopathy, also known as familial exudative vitreoretinopathy, is related to familial exudative vitreoretinopathy, autosomal dominant and retinal detachment. 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 eye, 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:63 Familial exudative vitreoretinopathy (FEVR) (pronounced \"fever\") is a genetic eye disorder affecting... more...

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

Aliases & Classifications for Exudative Vitreoretinopathy

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic 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: Variable; Age of death: Normal
retinopathy of prematurity:
Prevalence: 1-5/10000


Aliases & Descriptions:

exudative vitreoretinopathy 8 9 46 10
familial exudative vitreoretinopathy 8 42 21 48
exudative vitreoretinopathy, familial 42 20 22
fevr 42 21 48
criswick-schepens syndrome 42 48
exudative vitreoretinopathy 1 60
retinopathy of prematurity 48
retrolental fibroplasia 48
rop 48


External Ids:

Disease Ontology8 DOID:0050535
MESH via Orphanet35 C536382, D012178
ICD10 via Orphanet26 H35.0, H35.1
SNOMED-CT via Orphanet57 232063007, 415297005
UMLS via Orphanet61 C0339539, C1851402, C0035344

Related Diseases for Exudative Vitreoretinopathy

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17GeneCards, 18GeneDecks
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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
1familial exudative vitreoretinopathy, autosomal dominant31.0FZD4, LRP5
2retinal detachment30.7NDP, FZD4, IKBKG
3retinopathy of prematurity30.5TSPAN12, IKBKG, FZD4, NDP
4coats disease30.2TSPAN12, IKBKG, NDP
5retinitis10.7
6x-linked disease10.5
7refractive error10.4
8skin hemangioma10.4
9vascular disease10.4
10lrp5-related familial exudative vitreoretinopathy, autosomal recessive10.4
11x-linked familial exudative vitreoretinopathy10.4
12exudative vitreoretinopathy 510.4
13exudative vitreoretinopathy 410.4
14choroiditis10.4
15retinal disease10.4
16retinoblastoma10.4
17bilateral retinoblastoma10.3
18ndp-related retinopathy of prematurity10.3
19digeorge syndrome10.3
20osteoporosis10.3
21glaucoma10.3
22myopia10.3
23fzd4-related familial exudative vitreoretinopathy, autosomal dominant10.3
24lrp5-related familial exudative vitreoretinopathy, autosomal dominant10.3
25tspan12-related familial exudative vitreoretinopathy, autosomal dominant10.3
26exudative vitreoretinopathy, x-linked10.3
27cystoid macular edema10.2
28hyperglycemia10.2
29retinal vascular disease10.2
30strabismus10.2
31cystic fibrosis10.1
32anisometropia10.1
33primary open angle glaucoma10.1
34macular holes10.1
35astigmatism10.1
36cataract10.1
37open-angle glaucoma10.1
38exudative vitreoretinopathy-310.1
39hypertrophic scars10.1
40ischemic retinopathy10.1
41periventricular leukomalacia10.1
42paralytic ileus10.1
43familial retinoblastoma10.1
44cycloplegia10.1
45coloboma10.1
46chorioamnionitis10.1
47funisitis10.1
48neuronitis10.1
49protein s deficiency10.1
50cortical blindness10.1

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



Diseases related to exudative vitreoretinopathy

Clinical Features for Exudative Vitreoretinopathy

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46OMIM
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Clinical features from OMIM:

601813,305390,613310,133780,605750

Clinical synopsis from OMIM:

133780

Drugs & Therapeutics for Exudative Vitreoretinopathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Exudative Vitreoretinopathy

Drug clinical trials:

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Search NIH Clinical Center for Exudative Vitreoretinopathy

Search CenterWatch for Exudative Vitreoretinopathy

Genetic Tests for Exudative Vitreoretinopathy

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20GeneTests, 22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3NDP, FZD6, FZD1, FZD4, TSPAN12
2MP:00011869.1LRP5, NDP, FZD7, FZD1, FZD4, IKBKG
3MP:00053918.7NDP, FZD6, FZD5, FZD4, LRP5, TSPAN12
4MP:00053868.1NDP, FZD5, FZD4, FZD9, MAOA, IKBKG
5MP:00053858.1NDP, FZD7, FZD1, FZD5, FZD4, MAOA
6MP:00036317.5CADPS2, NDP, FZD6, FZD7, FZD1, FZD5

Publications for Exudative Vitreoretinopathy

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50PubMed
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Articles related to Exudative Vitreoretinopathy:

(show top 50)    (show all 132)
idTitleAuthorsYear
1
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. (23716654)
2013
2
Fluorescein angiography of a closing funnel retinal detachment in familial exudative vitreoretinopathy. (23929513)
2013
3
Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease. (22563645)
2012
4
Asymmetry of familial exudative vitreoretinopathy. (22372757)
2012
5
A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy. (21960066)
2011
6
Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes. (21552475)
2011
7
An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy. (21177847)
2011
8
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy. (20491809)
2010
9
Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy. (20938005)
2010
10
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. (20340138)
2010
11
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. (20159112)
2010
12
Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. (19172507)
2009
13
Familial exudative vitreoretinopathy (FEVR) associated with infantile osteoporosis: case report. (19466342)
2009
14
Treatment of vascularly active familial exudative vitreoretinopathy with pegaptanib sodium (Macugen). (18317351)
2008
15
Rapid regression of retinal hemorrhage and neovascularization in a case of familial exudative vitreoretinopathy treated with intravitreal bevacizumab. (18795314)
2008
16
Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. (17093393)
2006
17
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. (15981244)
2005
18
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. (15733276)
2005
19
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. (14507768)
2003
20
A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. (11179025)
2001
21
Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis. (11409862)
2001
22
Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree. (10729291)
2000
23
Familial exudative vitreoretinopathy associated with monocular axial myopia. (10380037)
1999
24
Vitrectomy for rhegmatogenous or tractional retinal detachment with familial exudative vitreoretinopathy. (10366074)
1999
25
Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous. (10218708)
1999
26
Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy. (9618247)
1998
27
Combined tractional rhegmatogenous retinal detachment in familial exudative vitreoretinopathy associated with posterior retinal holes: surgical therapy. (9869471)
1998
28
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. (9831343)
1998
29
Familial exudative vitreoretinopathy associated with nonneovascular chronic angle-closure glaucoma. (9075081)
1997
30
Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. (9056564)
1997
31
X-linked familial exudative vitreoretinopathy. Report of one family. (7624602)
1995
32
Improved surgical treatment of familial exudative vitreoretinopathy in children. (7573305)
1995
33
Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy. (8535448)
1995
34
Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. (7558002)
1995
35
X-linked familial exudative vitreoretinopathy (FEVR): results of DNA analysis with candidate genes. (8418643)
1993
36
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. (8457509)
1993
37
Familial exudative vitreoretinopathy. (8325737)
1993
38
X-linked recessive familial exudative vitreoretinopathy. (1642288)
1992
39
The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. (1598965)
1992
40
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. (1415220)
1992
41
Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. (1985487)
1991
42
Dominant exudative vitreoretinopathy: a sporadic case with a normal platelet aggregation study. (1917315)
1991
43
Optic disc neovascularization in dominant exudative vitreoretinopathy. (2483463)
1989
44
Electrophysiological findings in familial exudative vitreoretinopathy. (3691294)
1987
45
Familial exudative vitreoretinopathy. (3965032)
1985
46
Retinal vascular pattern in familial exudative vitreoretinopathy. (6084219)
1984
47
Falciform retinal fold as sign of familial exudative vitreoretinopathy. (6855020)
1983
48
Familial exudative vitreoretinopathy. (6847052)
1983
49
Familial exudative vitreoretinopathy. (7342402)
1981
50
Flourescein angiography in mild stages of dominant exudative vitreoretinopathy. (548734)
1979

Genetic Variations for Exudative Vitreoretinopathy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Exudative Vitreoretinopathy:

62 (show all 20)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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37NCBI BioSystems Database, 4Cell Signaling Technology, 55SinoBiological, 53Reactome, 51QIAGEN, 29KEGG, 59Tocris Bioscience, 12EMD Millipore, 52R&D Systems
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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

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Exudative Vitreoretinopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1maoa4410.0MAOA, NDP
2calcium44 49 11 249.6GORASP1, CADPS2, FZD6, FZD8, FZD7, FZD1

GO Terms for genes affiliated with Exudative Vitreoretinopathy

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16Gene Ontology
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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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet