MCID: EXD001
MIFTS: 50

Exudative Vitreoretinopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Exudative Vitreoretinopathy

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Sources:
65UMLS, 10Disease Ontology, 11diseasecard, 12DISEASES, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 27ICD10, 29ICD9CM, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Exudative Vitreoretinopathy:

Name: Exudative Vitreoretinopathy 10 11 12
Familial Exudative Vitreoretinopathy 10 45 22 23 51
Fevr 10 45 22 23 51
 
Exudative Vitreoretinopathy, Familial 45 24
Criswick-Schepens Syndrome 45 51
Exudative Vitreoretinopathy 1 65

Characteristics:

Orphanet epidemiological data:

51
familial exudative vitreoretinopathy:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: any age

Classifications:



External Ids:

Disease Ontology10 DOID:0050535
ICD1027 H35.00
ICD9CM29 362.10
Orphanet51 891
ICD10 via Orphanet28 H35.0
MESH via Orphanet37 C536382
UMLS via Orphanet66 C0339539, C1851402
UMLS65 C0004608, C1851402

Summaries for Exudative Vitreoretinopathy

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NIH Rare Diseases:45 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 exudative vitreoretinopathy 2, x-linked and exudative vitreoretinopathy 1. An important gene associated with Exudative Vitreoretinopathy is NDP (Norrie Disease (Pseudoglioma)), and among its related pathways are Non-Canonical Wnt Pathway and Regulation of FZD by ubiquitination. Affiliated tissues include retina, eye and prostate, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Disease Ontology:10 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:23 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:68 Familial exudative vitreoretinopathy (FEVR) (pronounced \"fever\") is a genetic eye disorder affecting... more...

Related Diseases for Exudative Vitreoretinopathy

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Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 5 Exudative Vitreoretinopathy 3
Exudative Vitreoretinopathy 6 Exudative Vitreoretinopathy 4
Exudative Vitreoretinopathy 1 Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive
Fzd4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant
Tspan12-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1exudative vitreoretinopathy 2, x-linked33.5FZD4, LRP5, NDP
2exudative vitreoretinopathy 112.4
3exudative vitreoretinopathy 512.3
4exudative vitreoretinopathy 312.3
5exudative vitreoretinopathy 412.3
6x-linked familial exudative vitreoretinopathy12.3
7exudative vitreoretinopathy 612.3
8lrp5-related familial exudative vitreoretinopathy, autosomal recessive12.1
9fzd4-related familial exudative vitreoretinopathy, autosomal dominant12.1
10lrp5-related familial exudative vitreoretinopathy, autosomal dominant12.1
11tspan12-related familial exudative vitreoretinopathy, autosomal dominant12.1
12retinitis10.6
13norrie disease10.5
14peeling skin syndrome10.4FZD4, NDP
15retinal detachment10.4
16hyperostosis, endosteal10.2FZD4, LRP5, NDP
17albinism, oculocutaneous, type ia10.2FZD4, LRP5, NDP, TSPAN12
18microcephaly with or without chorioretinopathy, lymphedema, or mental retardation10.2
19blind hypertensive eye10.2FZD4, LRP5, NDP
20psychotic disorder10.1FZD4, LRP5, NDP, TSPAN12
21osteoporosis10.1
22digeorge syndrome10.1
23choroiditis10.1
24myopia10.1
25coats disease10.1
26delusional disorder10.0CTC1, FZD4, NDP
27thymus gland disease10.0FZD4, LRP5, NDP, TSPAN12, ZNF408
28cystic fibrosis9.9
29osteoporosis-pseudoglioma syndrome9.9
30cataract9.9
31lymphedema9.9
32spinal muscular atrophy9.9
33cone dystrophy9.9
34persistent hyperplastic primary vitreous9.9
35open-angle glaucoma9.9
36microcephaly9.9
37astigmatism9.9
38anisometropia9.9
39macular holes9.9
40muscular atrophy9.9
41chorioretinitis9.9
42cutis marmorata telangiectatica congenita9.9
43retina lymphoma9.9CTC1, FZD4, NDP, TSPAN12
44posterior polar cataract4.5CRYZL1, CTC1, DUP22Q11.2, EVR3, FZD1, FZD4

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



Diseases related to exudative vitreoretinopathy

Symptoms for Exudative Vitreoretinopathy

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Drugs & Therapeutics for Exudative Vitreoretinopathy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Genetic Studies of Familial Exudative VitreoretinopathyCompletedNCT00106756

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 Vitreoretinopathy22 NDP

Anatomical Context for Exudative Vitreoretinopathy

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MalaCards organs/tissues related to Exudative Vitreoretinopathy:

33
Retina, Eye, Prostate, Kidney, Breast, Thyroid, Endothelial

Animal Models for Exudative Vitreoretinopathy or affiliated genes

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MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4FZD1, FZD4, FZD7, LRP5, NDP
2MP:00053779.0FZD1, FZD4, FZD6, NDP, TSPAN12
3MP:00053807.8FZD1, FZD4, FZD5, FZD6, FZD7, KIF11
4MP:00053857.5FZD1, FZD4, FZD5, FZD7, LRP5, NDP

Publications for Exudative Vitreoretinopathy

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Articles related to Exudative Vitreoretinopathy:

(show top 50)    (show all 162)
idTitleAuthorsYear
1
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. (26908610)
2016
2
Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis. (27212378)
2016
3
Re: Yonekawa etA al.: Familial exudative vitreoretinopathy: spectral-domain optical coherence tomography of the vitreoretinal interface, retina, and choroid (Ophthalmology 2015;122:2270-7). (27107366)
2016
4
Familial Exudative Vitreoretinopathy: Spectral-Domain Optical Coherence Tomography ofA theA Vitreoretinal Interface, Retina, and Choroid. (26299697)
2015
5
Familial Exudative Vitreoretinopathy: Presentation in the First Week of Life. (26431558)
2015
6
Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy. (26109022)
2015
7
Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. (26530129)
2015
8
The Intracellular Loop 2 F328S Frizzled-4 Mutation Implicated in Familial Exudative Vitreoretinopathy Impairs Dishevelled Recruitment. (27096003)
2015
9
Familial exudative vitreoretinopathy mimicking macular telangiectasia type 1. (24513378)
2014
10
Diversity of Retinal Vascular Anomalies in Patients with Familial Exudative Vitreoretinopathy. (25005911)
2014
11
Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy. (24715757)
2014
12
Familial exudative vitreoretinopathy and related retinopathies. (25323851)
2014
13
Vitreomacular interface in patients with familial exudative vitreoretinopathy. (23334617)
2013
14
Simultaneous fzd4 and lrp5 mutation in autosomal dominant familial exudative vitreoretinopathy. (25390515)
2013
15
Asymmetric presentations of familial exudative vitreoretinopathy. (24082676)
2013
16
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant. (23834558)
2013
17
Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease. (22563645)
2012
18
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). (22427576)
2012
19
Clinical characteristics and surgical management of familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment. (22277905)
2012
20
A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy. (21960066)
2011
21
Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes. (21552475)
2011
22
An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy. (21177847)
2011
23
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. (20159111)
2010
24
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy. (20491809)
2010
25
Treatment of vascularly active familial exudative vitreoretinopathy with pegaptanib sodium (Macugen). (18317351)
2008
26
Rapid regression of retinal hemorrhage and neovascularization in a case of familial exudative vitreoretinopathy treated with intravitreal bevacizumab. (18795314)
2008
27
Novel human pathological mutations. Gene symbol: FZD4. Disease: exudative vitreoretinopathy. (18350654)
2007
28
Familial exudative vitreoretinopathy and macular hole exhibited in same individual. (17564927)
2007
29
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. (15981244)
2005
30
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. (15733276)
2005
31
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. (15665352)
2005
32
Progression of familial exudative vitreoretinopathy after laser treatment. (15534139)
2004
33
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. (15488808)
2004
34
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. (15223780)
2004
35
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. (12172548)
2002
36
Familial exudative vitreoretinopathy associated with monocular axial myopia. (10380037)
1999
37
Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. (9299244)
1997
38
Familial exudative vitreoretinopathy associated with nonneovascular chronic angle-closure glaucoma. (9075081)
1997
39
X-linked familial exudative vitreoretinopathy. Report of one family. (7624602)
1995
40
Familial Exudative Vitreoretinopathy, Autosomal Dominant (20301326)
1993
41
X-linked familial exudative vitreoretinopathy (FEVR): results of DNA analysis with candidate genes. (8418643)
1993
42
Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. (1985487)
1991
43
Optic disc neovascularization in dominant exudative vitreoretinopathy. (2483463)
1989
44
Criswick-Schepens syndrome (familial exudative vitreoretinopathy). Study of a Colombian kindred. (6487118)
1984
45
Similarity of familial exudative vitreoretinopathy and retinopathy of prematurity. (6687800)
1983
46
Falciform retinal fold as sign of familial exudative vitreoretinopathy. (6855020)
1983
47
Retinal involvement in familial exudative vitreoretinopathy. (7133626)
1982
48
Familial exudative vitreoretinopathy. (7342402)
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RCBTB1NM_018191.3(RCBTB1): c.1172+1G> Asingle nucleotide variantLikely pathogenicrs869312819GRCh37Chr 13, 50118872: 50118872
2NM_012193.3(FZD4): c.313A> G (p.Met105Val)single nucleotide variantPathogenicrs80358284GRCh38Chr 11, 86952443: 86952443
3NM_012193.3(FZD4): c.1282_1285delGACA (p.Asp428Serfs)deletionPathogenicrs80358295GRCh37Chr 11, 86662513: 86662516
4NM_012193.3(FZD4): c.1250G> A (p.Arg417Gln)single nucleotide variantPathogenicrs80358294GRCh37Chr 11, 86662548: 86662548

Expression for genes affiliated with Exudative Vitreoretinopathy

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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 Suite gene sharing:

(show all 25)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1FZD1, FZD4, FZD5, FZD9, NDP
2
Show member pathways
8.9FZD4, FZD5, FZD6, FZD8, LRP5
3
Show member pathways
8.9FZD4, FZD5, FZD6, FZD8, LRP5
4
Show member pathways
8.7FZD1, FZD4, FZD5, FZD6, FZD8, LRP5
58.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
6
Show member pathways
8.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
78.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
8
Show member pathways
8.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
9
Show member pathways
8.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
10
Show member pathways
8.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
118.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
128.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
138.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
14
Show member pathways
7.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
157.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
167.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
17
Show member pathways
7.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
18
Show member pathways
7.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
19
Show member pathways
7.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
207.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
21
Show member pathways
7.5FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
227.5FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
237.5FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
247.5FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
257.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8

GO Terms for genes affiliated with Exudative Vitreoretinopathy

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1vasculature developmentGO:000194410.1FZD5, LRP5
2bone marrow developmentGO:004853910.1CTC1, LRP5
3substrate adhesion-dependent cell spreadingGO:003444610.1FZD4, FZD7
4Wnt signaling pathway, calcium modulating pathwayGO:000722310.0FZD4, FZD5, FZD6
5beta-catenin destruction complex disassemblyGO:19048869.9FZD1, FZD5, LRP5
6ventricular septum morphogenesisGO:00604129.8FZD1, ZFPM1
7outflow tract morphogenesisGO:00031519.8FZD1, ZFPM1
8Wnt signaling pathway, planar cell polarity pathwayGO:00600719.6FZD1, FZD4, FZD6, FZD7
9T cell differentiation in thymusGO:00330779.6FZD5, FZD7, FZD8
10neuron differentiationGO:00301829.4FZD1, FZD4, FZD5, FZD7
11angiogenesisGO:00015259.3FZD5, FZD8, TSPAN12
12non-canonical Wnt signaling pathwayGO:00355679.0FZD5, FZD6, FZD7, FZD8, FZD9
13G-protein coupled receptor signaling pathwayGO:00071868.4FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
14canonical Wnt signaling pathwayGO:00600708.2FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
15Wnt signaling pathwayGO:00160558.2FZD1, FZD4, FZD5, FZD8, FZD9, LRP5

Molecular functions related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase bindingGO:00316259.6FZD4, FZD6, FZD8

Sources for Exudative Vitreoretinopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet