MCID: EXD001
MIFTS: 49

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 thyroid, 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 top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1exudative vitreoretinopathy 2, x-linked34.1FZD4, LRP5, NDP
2exudative vitreoretinopathy 112.8
3exudative vitreoretinopathy 512.7
4exudative vitreoretinopathy 312.7
5exudative vitreoretinopathy 412.7
6exudative vitreoretinopathy 612.7
7x-linked familial exudative vitreoretinopathy12.6
8lrp5-related familial exudative vitreoretinopathy, autosomal recessive12.5
9fzd4-related familial exudative vitreoretinopathy, autosomal dominant12.5
10lrp5-related familial exudative vitreoretinopathy, autosomal dominant12.5
11tspan12-related familial exudative vitreoretinopathy, autosomal dominant12.5
12microcephaly with or without chorioretinopathy, lymphedema, or mental retardation10.6
13prostatitis10.5
14leukemia10.4
15adenocarcinoma10.4
16peeling skin syndrome10.3FZD4, NDP
17rocky mountain spotted fever10.3
18spotted fever10.3
19sarcoma10.3
20thyroiditis10.3
21neuropathy10.3
22glioma10.3
23hyperostosis, endosteal10.2FZD4, LRP5, NDP
24albinism, oculocutaneous, type ia10.1FZD4, LRP5, NDP, TSPAN12
25schizophrenia10.1
26malaria10.1
27prostate cancer10.1
28ovarian hyperstimulation syndrome10.1
29fibrodysplasia ossificans progressiva10.1
30breast cancer10.1
31obesity10.1
32netherton syndrome10.1
33keratitis10.1
34central core disease10.1
35hemophilia a10.1
36favism10.1
37peripheral vascular disease10.1
38acute leukemia10.1
39chronic lymphocytic leukemia10.1
40colorectal adenoma10.1
41diabetic neuropathy10.1
42malignant glioma10.1
43neuromyelitis optica10.1
44neutropenia10.1
45polycystic ovary syndrome10.1
46adenoiditis10.1
47hypophosphatemia10.1
48ocular albinism10.1
49ductal carcinoma in situ10.1
50sensorineural hearing loss10.1

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, Thyroid, Kidney, Breast, T cells, 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 152)
idTitleAuthorsYear
1
Vision, eye disease, and art: 2015 Keeler Lecture. (26563659)
2015
2
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing. (25110662)
2014
3
Influence of molecular genetics in Vogt-Koyanagi-Harada disease. (25097674)
2014
4
Association between menstrual cycle irregularities and endocrine and metabolic characteristics of the polycystic ovary syndrome. (23109645)
2013
5
CMV-independent lysis of glioblastoma by ex vivo expanded/activated VI'1+ I^I' T cells. (23950874)
2013
6
NAF-1 and mitoNEET are central to human breast cancer proliferation by maintaining mitochondrial homeostasis and promoting tumor growth. (23959881)
2013
7
Relapsing-remitting multiple sclerosis and chronic idiopathic neutropenia: a challenging combination. (23417376)
2013
8
Severe pertussis in newborns and young vulnerable infants. (24067556)
2013
9
BRCA1 is a negative modulator of the PRC2 complex. (23624935)
2013
10
Drug reaction with Eosinophilia and Systemic Symptoms (DRESS) / Drug-induced Hypersensitivity Syndrome (DIHS): a review of current concepts. (22714760)
2012
11
Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis. (22469616)
2012
12
Aberrant hypomethylation of DDX43 promoter in myelodysplastic syndrome. (22563673)
2012
13
Facial dermatosis associated with Demodex: a case-control study. (22135150)
2011
14
EGFR gene copy number, ERCC1 and BRCA1 protein expression and their relationship in non-small cell lung cancer]. (22093627)
2011
15
p53 binds preferentially to genomic regions with high DNA-encoded nucleosome occupancy. (20716666)
2010
16
Common variation in NOS1AP and KCNH2 genes and QT interval duration in young adults. The Cardiovascular Risk in Young Finns Study. (18785031)
2009
17
Inhibition of glycosyltransferase activities as the basis for drug development. (19277539)
2009
18
Evaluation of the inflammatory response in sera from acute ischemic stroke patients by measurement of IL-2 and IL-10. (19340396)
2009
19
Platelet-released growth factors enhance the secretion of hyaluronic acid and induce hepatocyte growth factor production by synovial fibroblasts from arthritic patients. (17942474)
2007
20
Latent membrane protein 1 of EBV activates phosphatidylinositol 3-kinase to induce production of IL-10. (18056366)
2007
21
Relapsing polychondritis: a rare disease of multisystem involvement. (18094743)
2007
22
Lapatinib in breast cancer. (17591827)
2007
23
Sulforaphane causes autophagy to inhibit release of cytochrome C and apoptosis in human prostate cancer cells. (16740722)
2006
24
Effect of sodium valproate monotherapy on serum uric acid concentrations in ambulatory epileptic children: a prospective long-term study. (17035050)
2006
25
Electrical stimulation in normal and retinal degeneration (rd1) isolated mouse retina. (16723150)
2006
26
The effect of silencing NKG2D through RNA interference on receptor functions in interleukin-2-activated human natural killer cells. (17043026)
2006
27
Effects of inducible overexpression of DNp73alpha on cancer cell growth and response to treatment in vitro and in vivo. (15877106)
2005
28
Cytotoxic pyrroloiminoquinones from four new species of South African latrunculid sponges. (15332840)
2004
29
Mutual influence of cholesterol esterase and pseudocholinesterase on the biodegradation of dental composites. (14738842)
2004
30
Expression of tumor-associated membrane antigen, RCAS1, in human colorectal carcinomas and possible role in apoptosis of tumor-infiltrating lymphocytes. (12861064)
2003
31
Pathogenesis of autoimmune hepatitis. (12362577)
2002
32
Distinct poly(rC) binding protein KH domain determinants for poliovirus translation initiation and viral RNA replication. (12414943)
2002
33
Genetic alterations in gallbladder adenoma, dysplasia and carcinoma. (11410326)
2001
34
Ceramide-induced cell death in the prostate cancer cell line LNCaP has both necrotic and apoptotic features. (11241551)
2001
35
Management of von Willebrand disease: a survey on current clinical practice from the haemophilia centres of North America. (11380626)
2001
36
Microsatellite instability and mutational analysis of transforming growth factor beta receptor type II gene (TGFBR2) in sporadic ovarian cancer. (11477138)
2001
37
An underlying circannual rhythm in seasonal affective disorder? (11379669)
2001
38
Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita. (10713076)
2000
39
A case study: secondary amenorrhea. (10504917)
1999
40
The ras suppressor, RSU-1, enhances nerve growth factor-induced differentiation of PC12 cells and induces p21CIP expression. (10470855)
1999
41
In vitro assessment of the biological activity of basic fibroblast growth factor released from various polymers and biomatrices. (9285329)
1997
42
Optimal management of renal failure in primary hyperoxaluria in infancy, and the use of combined kidney/liver transplantation. (10084781)
1997
43
Modulation of intercellular adhesion molecule 1 (ICAM-1) expression on the human mast-cell line (HMC)-1 by inflammatory mediators. (8904994)
1996
44
Recombinant human eotaxin induces oxygen radical production, Ca(2+)-mobilization, actin reorganization, and CD11b upregulation in human eosinophils via a pertussis toxin-sensitive heterotrimeric guanine nucleotide-binding protein. (8874220)
1996
45
Translocations and amplification of the BCL2 gene are detected in interphase nuclei of non-Hodgkin's lymphoma by in situ hybridization with yeast artificial chromosome clones. (7632955)
1995
46
Massive apoptosis in infantile myofibromatosis. A putative mechanism of tumor regression. (8129033)
1994
47
Induction of CD5 antigen on human CD5- B cells by stimulation with Staphylococcus aureus Cowan strain I. (7691163)
1993
48
Value of the ophthalmologic examination in diagnosing patients with Anderson-Fabry disease and in heterozygote detection]. (1886355)
1991
49
Atrioventricular septal defect (primum atrial septal defect) with prolonged survival (despite severe mitral regurgitation and pulmonary hypertension) and associated cardiac calcification (mitral anulus, coronary artery and pulmonary trunk). (6475802)
1984
50
Pseudotumor cerebri. (7149501)
1982

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 26)
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
26
Show member pathways
6.8FZD1, 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