MCID: EXD001
MIFTS: 47

Exudative Vitreoretinopathy malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Aliases & Classifications for Exudative Vitreoretinopathy

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

Aliases & Descriptions for Exudative Vitreoretinopathy:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology10 DOID:0050535
ICD9CM29 362.10
Orphanet51 891
ICD10 via Orphanet28 H35.0
MESH via Orphanet37 C536382
UMLS via Orphanet66 C0339539, 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 fevr, is related to exudative vitreoretinopathy 1 and exudative vitreoretinopathy 2, x-linked. An important gene associated with Exudative Vitreoretinopathy is NDP (Norrie Disease (Pseudoglioma)), and among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and Regulation of FZD by ubiquitination. Affiliated tissues include retina, eye and testes, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

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 top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1exudative vitreoretinopathy 131.2FZD4, LRP5, NDP, TSPAN12
2exudative vitreoretinopathy 2, x-linked31.1FZD4, LRP5, NDP
3osteoporosis-pseudoglioma syndrome30.4FZD4, LRP5, NDP
4retinal disease30.4FZD4, LRP5, NDP, TSPAN12
5retinal vascular disease30.2CTC1, FZD4, NDP, TSPAN12
6retinitis10.8
7norrie disease10.8
8x-linked familial exudative vitreoretinopathy10.7
9exudative vitreoretinopathy 510.7
10exudative vitreoretinopathy 410.7
11retinal detachment10.7
12exudative vitreoretinopathy 310.6
13exudative vitreoretinopathy 610.5
14osteoporosis10.4
15lrp5-related familial exudative vitreoretinopathy, autosomal recessive10.4
16fzd4-related familial exudative vitreoretinopathy, autosomal dominant10.4
17lrp5-related familial exudative vitreoretinopathy, autosomal dominant10.4
18tspan12-related familial exudative vitreoretinopathy, autosomal dominant10.4
19digeorge syndrome10.3
20myopia10.3
21cystic fibrosis10.2
22microcephaly with or without chorioretinopathy, lymphedema, or mental retardation10.2
23wagner syndrome 110.2
24cataract10.2
25lymphedema10.2
26spinal muscular atrophy10.2
27anisometropia10.2
28choroiditis10.2
29vitreous detachment10.2
30cone dystrophy10.2
31microcephaly10.2
32macular holes10.2
33persistent hyperplastic primary vitreous10.2
34coats disease10.2
35spiradenoma10.2
36muscular atrophy10.2
37astigmatism10.2
38bone structure disease10.2
39chorioretinitis10.2
40eye disease10.2
41globe disease10.2
42lens disease10.2
43movement disease10.2
44ocular motility disease10.2
45open-angle glaucoma10.2
46pupil disease10.2
47vein disease10.2
48vitreous disease10.2
49cutis marmorata telangiectatica congenita10.2
50exudative retinopathy, familial10.2

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 24 NDP

Anatomical Context for Exudative Vitreoretinopathy

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MalaCards organs/tissues related to Exudative Vitreoretinopathy:

33
Retina, Eye, Testes

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:00053779.5FZD1, FZD4, FZD6, NDP, TSPAN12
2MP:00011869.4FZD1, FZD4, FZD7, LRP5, NDP
3MP:00053807.7FZD1, FZD4, FZD5, FZD6, FZD7, KIF11
4MP:00053857.6FZD1, FZD4, FZD5, FZD7, LRP5, NDP

Publications for Exudative Vitreoretinopathy

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Articles related to Exudative Vitreoretinopathy:

(show top 50)    (show all 151)
idTitleAuthorsYear
1
Familial Exudative Vitreoretinopathy: Spectral-Domain Optical Coherence Tomography ofA theA Vitreoretinal Interface, Retina, and Choroid. (26299697)
2015
2
Familial Exudative Vitreoretinopathy: Presentation in the First Week of Life. (26431558)
2015
3
Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy. (26109022)
2015
4
Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. (26530129)
2015
5
Familial exudative vitreoretinopathy mimicking macular telangiectasia type 1. (24513378)
2014
6
Diversity of Retinal Vascular Anomalies in Patients with Familial Exudative Vitreoretinopathy. (25005911)
2014
7
Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy. (24715757)
2014
8
Familial exudative vitreoretinopathy and related retinopathies. (25323851)
2014
9
Vitreomacular interface in patients with familial exudative vitreoretinopathy. (23334617)
2013
10
Simultaneous fzd4 and lrp5 mutation in autosomal dominant familial exudative vitreoretinopathy. (25390515)
2013
11
Asymmetric presentations of familial exudative vitreoretinopathy. (24082676)
2013
12
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant. (23834558)
2013
13
Familial exudative vitreoretinopathy presenting with unilateral rhegmatogenous retinal detachment in a Malay teenager. (23645703)
2013
14
Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease. (22563645)
2012
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
A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy. (21960066)
2011
18
Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes. (21552475)
2011
19
An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy. (21177847)
2011
20
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. (20159111)
2010
21
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy. (20491809)
2010
22
Treatment of vascularly active familial exudative vitreoretinopathy with pegaptanib sodium (Macugen). (18317351)
2008
23
Rapid regression of retinal hemorrhage and neovascularization in a case of familial exudative vitreoretinopathy treated with intravitreal bevacizumab. (18795314)
2008
24
Novel human pathological mutations. Gene symbol: FZD4. Disease: exudative vitreoretinopathy. (18350654)
2007
25
Familial exudative vitreoretinopathy and macular hole exhibited in same individual. (17564927)
2007
26
Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene. (18161623)
2007
27
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. (15733276)
2005
28
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. (15665352)
2005
29
Progression of familial exudative vitreoretinopathy after laser treatment. (15534139)
2004
30
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. (15488808)
2004
31
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. (15223780)
2004
32
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. (15024691)
2004
33
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. (12172548)
2002
34
Familial exudative vitreoretinopathy associated with monocular axial myopia. (10380037)
1999
35
Familial exudative vitreoretinopathy. Results of surgical management. (9627651)
1998
36
Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. (9299244)
1997
37
Familial exudative vitreoretinopathy associated with nonneovascular chronic angle-closure glaucoma. (9075081)
1997
38
Ocular findings in cutis marmorata telangiectatica congenita. Bilateral exudative vitreoretinopathy. (9279946)
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 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1NDPNM_000266.3(NDP): c.370C> T (p.Leu124Phe)single nucleotide variantPathogenicrs28933684GRCh37Chr X, 43809077: 43809077
2NDPNM_000266.3(NDP): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs104894878GRCh37Chr X, 43809086: 43809086
3NDPNM_000266.3(NDP): c.328T> G (p.Cys110Gly)single nucleotide variantPathogenicrs104894876GRCh37Chr X, 43809119: 43809119
4NDPNM_000266.3(NDP): c.362G> T (p.Arg121Leu)single nucleotide variantPathogenicrs137852220GRCh37Chr X, 43809085: 43809085
5TSPAN12NM_012338.3(TSPAN12): c.413A> G (p.Tyr138Cys)single nucleotide variantPathogenicrs587777283GRCh37Chr 7, 120450572: 120450572
6TSPAN12NM_012338.3(TSPAN12): c.67-1G> Csingle nucleotide variantPathogenicrs587777284GRCh37Chr 7, 120480164: 120480164
7TSPAN12NM_012338.3(TSPAN12): c.146C> T (p.Thr49Met)single nucleotide variantPathogenicrs538591733GRCh37Chr 7, 120480084: 120480084
8TSPAN12NM_012338.3(TSPAN12): c.285+1G> Asingle nucleotide variantPathogenicrs587777285GRCh37Chr 7, 120478830: 120478830
9NDPNM_000266.3(NDP): c.220C> T (p.Arg74Cys)single nucleotide variantPathogenicrs727504031GRCh37Chr X, 43809227: 43809227
10ZNF408NM_024741.2(ZNF408): c.1363C> T (p.His455Tyr)single nucleotide variantPathogenicrs373273223GRCh38Chr 11, 46705063: 46705063
11TSPAN12NM_012338.3(TSPAN12): c.734T> C (p.Leu245Pro)single nucleotide variantPathogenicrs200519776GRCh37Chr 7, 120428830: 120428830
12TSPAN12NM_012338.3(TSPAN12): c.709G> C (p.Ala237Pro)single nucleotide variantPathogenicrs267607154GRCh37Chr 7, 120428855: 120428855
13TSPAN12NM_012338.3(TSPAN12): c.562G> C (p.Gly188Arg)single nucleotide variantPathogenicrs267607151GRCh37Chr 7, 120446653: 120446653
14TSPAN12NM_012338.3(TSPAN12): c.212_218dupGCTGTTT (p.Phe73Leufs)duplicationPathogenicrs794726654GRCh37Chr 7, 120478898: 120478904
15TSPAN12NM_012338.3(TSPAN12): c.419T> A (p.Leu140Ter)single nucleotide variantPathogenicrs267607153GRCh37Chr 7, 120450566: 120450566
16TSPAN12NM_012338.3(TSPAN12): c.361-5_361-1delACCAGdeletionPathogenicrs794726655GRCh37Chr 7, 120450625: 120450629
17TSPAN12NM_012338.3(TSPAN12): c.302T> A (p.Leu101His)single nucleotide variantPathogenicrs267607152GRCh37Chr 7, 120455841: 120455841
18NM_012193.3(FZD4): c.1479_1484delGTGGAT (p.Met493_Trp494del)deletionPathogenicrs80358301GRCh37Chr 11, 86662314: 86662319
19NM_012193.3(FZD4): c.1501_1502delCT (p.Leu501Serfs)deletionPathogenicrs80358303GRCh37Chr 11, 86662296: 86662297
20NM_012193.3(FZD4): c.1250G> A (p.Arg417Gln)single nucleotide variantPathogenicrs80358294GRCh37Chr 11, 86662548: 86662548
21NM_012193.3(FZD4): c.1024A> G (p.Met342Val)single nucleotide variantPathogenicrs80358293GRCh37Chr 11, 86662774: 86662774
22NM_012193.3(FZD4): c.1005G> C (p.Trp335Cys)single nucleotide variantPathogenicrs80358292GRCh37Chr 11, 86662793: 86662793

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.9FZD4, FZD5, FZD6, FZD8, LRP5
2
Show member pathways
8.9FZD4, FZD5, FZD6, FZD8, LRP5
3
Show member pathways
8.8CAMK2G, FZD1, FZD4, FZD5, FZD9, NDP
4
Show member pathways
8.6FZD1, FZD4, FZD5, FZD6, FZD8, LRP5
58.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
6
Show member pathways
8.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
7
Show member pathways
8.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
8
Show member pathways
8.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
98.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
10
Show member pathways
8.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
118.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
128.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
138.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
148.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
158.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
16
Show member pathways
7.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
177.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
187.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
19
Wnt Signaling Pathway (WikiPathways)
Show member pathways
7.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
207.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
217.7CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7
22
Show member pathways
7.7CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7
23
Wnt signaling pathway (KEGG)
Show member pathways
7.5CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7
247.5CAMK2G, 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
1cell surfaceGO:00099868.8FZD1, FZD4, FZD5, FZD6, FZD9, NDP
2membraneGO:00160207.0CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:003542610.6FZD4, LRP5, NDP
2Wnt signaling pathway involved in dorsal/ventral axis specificationGO:004433210.5FZD5, LRP5
3retina vasculature morphogenesis in camera-type eyeGO:006129910.5FZD4, LRP5, NDP
4bone marrow developmentGO:004853910.5CTC1, LRP5
5negative regulation of cell-substrate adhesionGO:001081210.3FZD4, FZD7
6vasculature developmentGO:000194410.3FZD5, LRP5
7regulation of canonical Wnt signaling pathwayGO:006082810.3FZD5, LRP5
8ventricular septum morphogenesisGO:006041210.3FZD1, ZFPM1
9positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.1FZD1, FZD4, LRP5, NDP
10positive regulation of JUN kinase activityGO:00435079.9FZD4, FZD5, FZD8
11positive regulation of canonical Wnt signaling pathwayGO:00902639.9FZD1, FZD5, LRP5
12retinal blood vessel morphogenesisGO:00613049.7FZD4, LRP5
13T cell differentiation in thymusGO:00330779.5FZD5, FZD7, FZD8
14positive regulation of transcription, DNA-templatedGO:00458939.2FZD1, FZD4, FZD7, LRP5, NDP
15non-canonical Wnt signaling pathwayGO:00355678.8FZD1, FZD5, FZD6, FZD7, FZD8, FZD9
16neuron differentiationGO:00301828.5FZD1, FZD4, FZD5, FZD7, FZD8
17Wnt signaling pathwayGO:00160558.5FZD1, FZD4, FZD5, FZD8, FZD9, LRP5
18canonical Wnt signaling pathwayGO:00600708.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
19cell surface receptor signaling pathwayGO:00071668.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
20G-protein coupled receptor signaling pathwayGO:00071868.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1frizzled bindingGO:00051099.8FZD1, FZD7, NDP
2ubiquitin protein ligase bindingGO:00316259.1FZD4, FZD5, FZD6, FZD8
3PDZ domain bindingGO:00301659.0FZD1, FZD4, FZD7, FZD8
4transmembrane signaling receptor activityGO:00048888.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
5Wnt-activated receptor activityGO:00428138.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
6Wnt-protein bindingGO:00171478.0FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
7G-protein coupled receptor activityGO:00049307.7FZD1, FZD4, FZD5, FZD6, FZD7, 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