MCID: EXD001
MIFTS: 48

Exudative Vitreoretinopathy malady

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

Aliases & Classifications for Exudative Vitreoretinopathy

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Sources:
66UMLS, 11Disease Ontology, 13DISEASES, 25GTR, 12diseasecard, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 28ICD10, 30ICD9CM, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Exudative Vitreoretinopathy:

Name: Exudative Vitreoretinopathy 11 13 25 12
Familial Exudative Vitreoretinopathy 11 46 23 24 52
Fevr 11 46 23 24 52
 
Exudative Vitreoretinopathy, Familial 46 25
Criswick-Schepens Syndrome 46 52
Exudative Vitreoretinopathy 1 66

Characteristics:

Orphanet epidemiological data:

52
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 Ontology11 DOID:0050535
ICD1028 H35.00
ICD9CM30 362.10
Orphanet52 ORPHA891
ICD10 via Orphanet29 H35.0
MESH via Orphanet38 C536382
UMLS via Orphanet67 C0339539, C1851402
UMLS66 C0004608

Summaries for Exudative Vitreoretinopathy

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NIH Rare Diseases:46 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 1 and exudative vitreoretinopathy 5. An important gene associated with Exudative Vitreoretinopathy is NDP (NDP, Norrin Cystine Knot Growth Factor), and among its related pathways are Regulation of FZD by ubiquitination and Non-Canonical Wnt Pathway. Affiliated tissues include retina, eye and testes, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Disease Ontology:11 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:24 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:69 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 45)
idRelated DiseaseScoreTop Affiliating Genes
1exudative vitreoretinopathy 112.4
2exudative vitreoretinopathy 512.3
3exudative vitreoretinopathy 312.3
4exudative vitreoretinopathy 412.3
5exudative vitreoretinopathy 2, x-linked12.3
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
14tuberculous peritonitis10.4FZD4, NDP
15retinal detachment10.4
16nystagmus 5, congenital, x-linked10.2FZD4, LRP5, NDP, TSPAN12
17albinism, oculocutaneous, type ia10.2FZD4, LRP5, NDP, TSPAN12
18microcephaly with or without chorioretinopathy, lymphedema, or mental retardation10.2
19hyperostosis, endosteal10.2FZD4, LRP5, NDP
20dental pulp disease10.1FZD4, LRP5, NDP, TSPAN12
21osteoporosis10.1
22digeorge syndrome10.1
23coats disease10.1
24choroiditis10.1
25myopia10.1
26opportunistic mycosis10.0FZD4, LRP5, NDP, TSPAN12, ZNF408
27regular astigmatism10.0FZD4, LRP5, NDP
28arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay9.9CTC1, FZD4, NDP
29cystic fibrosis9.9
30osteoporosis-pseudoglioma syndrome9.9
31cutis marmorata telangiectatica congenita9.9
32cataract9.9
33lymphedema9.9
34spinal muscular atrophy9.9
35cone dystrophy9.9
36persistent hyperplastic primary vitreous9.9
37open-angle glaucoma9.9
38microcephaly9.9
39astigmatism9.9
40anisometropia9.9
41macular holes9.9
42muscular atrophy9.9
43chorioretinitis9.9
44pediatric extraocular retinoblastoma9.9CTC1, FZD4, NDP, TSPAN12
45charcot-marie-tooth disease type x4.3CAMK2G, CRYZL1, CTC1, DUP22Q11.2, EVR3, FZD1

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 Vitreoretinopathy25 23 NDP
2 Exudative Vitreoretinopathy25

Anatomical Context for Exudative Vitreoretinopathy

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MalaCards organs/tissues related to Exudative Vitreoretinopathy:

34
Retina, Eye, Testes

Animal Models for Exudative Vitreoretinopathy or affiliated genes

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MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4FZD1, FZD4, FZD6, NDP, TSPAN12
2MP:00011869.2FZD1, FZD4, FZD7, LRP5, NDP
3MP:00053807.9FZD1, FZD4, FZD5, FZD6, FZD7, KIF11

Publications for Exudative Vitreoretinopathy

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Articles related to Exudative Vitreoretinopathy:

(show top 50)    (show all 169)
idTitleAuthorsYear
1
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
2
CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype. (26967979)
2016
3
SURGICAL MANAGEMENT OF ADVANCED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH COMPLICATIONS. (26807630)
2016
4
INCREASED POSTERIOR RETINAL VESSELS IN MILD ASYMPTOMATIC FAMILIAL EXUDATIVE VITREORETINOPATHY EYES. (26655609)
2016
5
Familial Exudative Vitreoretinopathy: Spectral-Domain Optical Coherence Tomography ofA theA Vitreoretinal Interface, Retina, and Choroid. (26299697)
2015
6
Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. (26530129)
2015
7
The Intracellular Loop 2 F328S Frizzled-4 Mutation Implicated in Familial Exudative Vitreoretinopathy Impairs Dishevelled Recruitment. (27096003)
2015
8
Familial exudative vitreoretinopathy mimicking macular telangiectasia type 1. (24513378)
2014
9
Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy. (24715757)
2014
10
Familial exudative vitreoretinopathy and related retinopathies. (25323851)
2014
11
Surgical Outcomes of Progressive Tractional Retinal Detachment Associated With Familial Exudative Vitreoretinopathy. (25127701)
2014
12
Asymmetric presentations of familial exudative vitreoretinopathy. (24082676)
2013
13
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant. (23834558)
2013
14
Familial exudative vitreoretinopathy in a premature child. (24144178)
2013
15
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). (22427576)
2012
16
Clinical characteristics and surgical management of familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment. (22277905)
2012
17
An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy. (21177847)
2011
18
Norrie disease vs familial exudative vitreoretinopathy. (21670366)
2011
19
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease. (21097938)
2011
20
Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. (19172507)
2009
21
Rapid regression of retinal hemorrhage and neovascularization in a case of familial exudative vitreoretinopathy treated with intravitreal bevacizumab. (18795314)
2008
22
Novel human pathological mutations. Gene symbol: FZD4. Disease: exudative vitreoretinopathy. (18350654)
2007
23
Familial exudative vitreoretinopathy and macular hole exhibited in same individual. (17564927)
2007
24
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. (15981244)
2005
25
Progression of familial exudative vitreoretinopathy after laser treatment. (15534139)
2004
26
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. (15488808)
2004
27
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. (15223780)
2004
28
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. (15024691)
2004
29
Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy. (14560311)
2004
30
A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. (11179025)
2001
31
Vitrectomy for rhegmatogenous or tractional retinal detachment with familial exudative vitreoretinopathy. (10366074)
1999
32
Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous. (10218708)
1999
33
Familial exudative vitreoretinopathy. Results of surgical management. (9627651)
1998
34
Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy. (9618247)
1998
35
Combined tractional rhegmatogenous retinal detachment in familial exudative vitreoretinopathy associated with posterior retinal holes: surgical therapy. (9869471)
1998
36
Ocular findings in cutis marmorata telangiectatica congenita. Bilateral exudative vitreoretinopathy. (9279946)
1997
37
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. (8946107)
1996
38
Familial Exudative Vitreoretinopathy, Autosomal Dominant (20301326)
1993
39
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. (8457509)
1993
40
X-linked recessive familial exudative vitreoretinopathy. (1642288)
1992
41
Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. (1985487)
1991
42
Optic disc neovascularization in dominant exudative vitreoretinopathy. (2483463)
1989
43
The histopathology of familial exudative vitreoretinopathy. A report of two cases. (3977696)
1985
44
Dominant exudative vitreoretinopathy. (4058870)
1985
45
Similarity of familial exudative vitreoretinopathy and retinopathy of prematurity. (6687800)
1983
46
Autosomal dominant exudative vitreoretinopathy. (6626002)
1983
47
Retinal involvement in familial exudative vitreoretinopathy. (7133626)
1982
48
Familial exudative vitreoretinopathy. (7342402)
1981
49
Congenital retinal fold as a sign of dominant exudative vitreoretinopathy. (6911005)
1981
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
1NM_012193.3(FZD4): c.313A> G (p.Met105Val)single nucleotide variantPathogenicrs80358284GRCh38Chr 11, 86952443: 86952443
2NM_012193.3(FZD4): c.1282_1285delGACA (p.Asp428Serfs)deletionPathogenicrs80358295GRCh37Chr 11, 86662513: 86662516
3NM_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 24)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1FZD4, FZD5, FZD6, FZD8, LRP5
2
Show member pathways
8.9CAMK2G, FZD1, FZD4, FZD5, FZD9, NDP
3
Show member pathways
8.9FZD1, FZD4, FZD5, FZD6, FZD8, LRP5
4
Show member pathways
8.4FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
58.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
6
Show member pathways
8.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
78.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
8
Show member pathways
8.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
98.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
10
Show member pathways
8.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
11
Show member pathways
8.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
128.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
138.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
148.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
158.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
16
Show member pathways
8.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
178.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
188.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
19
Show member pathways
8.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
208.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
218.0CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7
22
Show member pathways
8.0CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7
23
Show member pathways
7.8CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7
247.8CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7

GO Terms for genes affiliated with Exudative Vitreoretinopathy

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Cellular components related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Wnt signalosomeGO:199090910.5FZD1, LRP5
2Wnt-Frizzled-LRP5/6 complexGO:199085110.4FZD8, LRP5
3cell surfaceGO:00099869.0FZD1, FZD4, FZD5, FZD6, FZD9, NDP

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1Wnt signaling pathway involved in dorsal/ventral axis specificationGO:004433210.7FZD5, LRP5
2extracellular matrix-cell signalingGO:003542610.6FZD4, LRP5, NDP
3retinal blood vessel morphogenesisGO:006130410.5FZD4, LRP5
4vasculature developmentGO:000194410.5FZD5, LRP5
5retina vasculature morphogenesis in camera-type eyeGO:006129910.4FZD4, LRP5, NDP
6bone marrow developmentGO:004853910.4CTC1, LRP5
7regulation of canonical Wnt signaling pathwayGO:006082810.4FZD5, LRP5
8beta-catenin destruction complex disassemblyGO:190488610.2FZD1, FZD5, LRP5
9Wnt signaling pathway, calcium modulating pathwayGO:000722310.2FZD4, FZD5, FZD6
10ventricular septum morphogenesisGO:006041210.2FZD1, ZFPM1
11negative regulation of cell-substrate adhesionGO:001081210.1FZD4, FZD7
12positive regulation of JUN kinase activityGO:004350710.0FZD4, FZD5, FZD8
13positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.0FZD1, FZD4, LRP5, NDP
14T cell differentiation in thymusGO:00330779.5FZD5, FZD7, FZD8
15Wnt signaling pathway, planar cell polarity pathwayGO:00600719.5FZD1, FZD4, FZD5, FZD6, FZD7
16positive regulation of transcription, DNA-templatedGO:00458939.4FZD1, FZD4, FZD7, LRP5, NDP
17non-canonical Wnt signaling pathwayGO:00355679.2FZD1, FZD5, FZD6, FZD7, FZD8, FZD9
18neuron differentiationGO:00301828.9FZD1, FZD4, FZD5, FZD7, FZD8
19Wnt signaling pathwayGO:00160558.7FZD1, FZD4, FZD5, FZD8, FZD9, LRP5
20canonical Wnt signaling pathwayGO:00600708.5FZD1, FZD4, FZD5, FZD7, FZD8, FZD9
21G-protein coupled receptor signaling pathwayGO:00071868.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8

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

idNameGO IDScoreTop Affiliating Genes
1frizzled bindingGO:000510910.0FZD1, FZD7, NDP
2ubiquitin protein ligase bindingGO:00316259.2FZD4, FZD5, FZD6, FZD8
3PDZ domain bindingGO:00301659.2FZD1, FZD4, FZD7, FZD8
4Wnt-protein bindingGO:00171478.5FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
5Wnt-activated receptor activityGO:00428138.5FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
6G-protein coupled receptor activityGO:00049308.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8

Sources for Exudative Vitreoretinopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet