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
Vitreomacular interface in patients with familial exudative vitreoretinopathy. (23334617)
2013
2
Asymmetric presentations of familial exudative vitreoretinopathy. (24082676)
2013
3
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant. (23834558)
2013
4
Familial exudative vitreoretinopathy presenting with unilateral rhegmatogenous retinal detachment in a Malay teenager. (23645703)
2013
5
Familial exudative vitreoretinopathy in a premature child. (24144178)
2013
6
Falciform Macular Folds and Chromosome 22q11.2: Evidence in Support of a Locus for Familial Exudative Vitreoretinopathy (FEVR). (23521024)
2013
7
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). (22427576)
2012
8
Familial exudative vitreoretinopathy. (22551617)
2012
9
Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy. (23077402)
2012
10
Norrie disease vs familial exudative vitreoretinopathy. (21670366)
2011
11
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease. (21097938)
2011
12
Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. (21850187)
2011
13
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. (20159111)
2010
14
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. (19324841)
2009
15
Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2? (19501404)
2009
16
Novel human pathological mutations. Gene symbol: FZD4. Disease: exudative vitreoretinopathy. (18350654)
2007
17
Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene. (18161623)
2007
18
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. (16970763)
2006
19
Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy. (17050281)
2006
20
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. (15665352)
2005
21
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. (15488808)
2004
22
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. (15223780)
2004
23
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. (15024691)
2004
24
Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). (15370539)
2004
25
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. (12172548)
2002
26
Excessive myopia and anisometropia associated with familial exudative vitreoretinopathy. (12173668)
2002
27
Familial exudative vitreoretinopathy. Results of surgical management. (9627651)
1998
28
Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. (9299244)
1997
29
Ocular findings in cutis marmorata telangiectatica congenita. Bilateral exudative vitreoretinopathy. (9279946)
1997
30
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. (9143917)
1997
31
Familial exudative vitreoretinopathy: surgical intervention and visual acuity outcomes. (9285217)
1997
32
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. (8946107)
1996
33
Autosomal dominant exudative vitreoretinopathy: linkage analysis and its clinical application. (7728109)
1995
34
Familial Exudative Vitreoretinopathy, Autosomal Dominant (20301326)
1993
35
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. (8252044)
1993
36
Familial exudative vitreoretinopathy: multiple modes of inheritance. (8313628)
1993
37
Familial exudative vitreoretinopathy (FEVR) and platelet dysfunction. (2751985)
1989
38
Juvenile retinal detachment as a complication of familial exudative vitreoretinopathy. (2759534)
1989
39
The histopathology of familial exudative vitreoretinopathy. A report of two cases. (3977696)
1985
40
Autosomal dominant exudative vitreoretinopathy. (6732559)
1984
41
Similarity of familial exudative vitreoretinopathy and retinopathy of prematurity. (6687800)
1983
42
Familial exudative vitreoretinopathy associated with familial thrombocytopathy. (6685528)
1983
43
Autosomal dominant exudative vitreoretinopathy. (6626002)
1983
44
Two cases of dominant exudative vitreoretinopathy. (7187626)
1982
45
Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. (6897033)
1982
46
Pathologic findings in familial exudative vitreoretinopathy. (7305712)
1981
47
Familial exudative vitreoretinopathy. (6906151)
1980
48
Fluorescein angiographic findings in familial exudative vitreoretinopathy. (947162)
1976
49
Familial exudative vitreoretinopathy. An expanded view. (5571414)
1971
50
Familial exudative vitreoretinopathy. (5394449)
1969

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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  • Antibodies
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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