FEVR
MCID: EXD001
MIFTS: 47

Exudative Vitreoretinopathy (FEVR) malady

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

Aliases & Classifications for Exudative Vitreoretinopathy

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Exudative Vitreoretinopathy:

Name: Exudative Vitreoretinopathy 11 27 12 13 68
Familial Exudative Vitreoretinopathy 11 48 24 25 54
Fevr 11 48 24 25 54
 
Exudative Vitreoretinopathy, Familial 48 27
Criswick-Schepens Syndrome 48 54
Exudative Vitreoretinopathy 1 68

Characteristics:

Orphanet epidemiological data:

54
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
ICD1030 H35.00
ICD9CM32 362.10
Orphanet54 ORPHA891
ICD10 via Orphanet31 H35.0
MESH via Orphanet40 C536382
UMLS via Orphanet69 C0339539, C1851402

Summaries for Exudative Vitreoretinopathy

About this section
NIH Rare Diseases:48 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 astigmatism and exudative vitreoretinopathy 1. An important gene associated with Exudative Vitreoretinopathy is FZD4 (Frizzled Class Receptor 4), and among its related pathways are Wnt/beta-catenin Signaling Pathway in Leukemia and Ectoderm Differentiation. Affiliated tissues include retina, eye and testes, and related mouse phenotypes are Decreased substrate adherent cell growth 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:25 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:71 Familial exudative vitreoretinopathy (FEVR) (/ˈfiːvər/ FEE-vər) is a genetic disorder... more...

Related Diseases for Exudative Vitreoretinopathy

About this section

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
1astigmatism30.0FZD4, LRP5, NDP
2exudative vitreoretinopathy 112.4
3exudative vitreoretinopathy 512.3
4exudative vitreoretinopathy 312.3
5exudative vitreoretinopathy 412.3
6exudative vitreoretinopathy 2, x-linked12.3
7exudative vitreoretinopathy 612.3
8x-linked familial exudative vitreoretinopathy12.2
9lrp5-related familial exudative vitreoretinopathy, autosomal recessive12.0
10fzd4-related familial exudative vitreoretinopathy, autosomal dominant12.0
11lrp5-related familial exudative vitreoretinopathy, autosomal dominant12.0
12tspan12-related familial exudative vitreoretinopathy, autosomal dominant12.0
13microcephaly with or without chorioretinopathy, lymphedema, or mental retardation11.0
14retinitis10.5
15norrie disease10.4
16retinal detachment10.3
17breast osteosarcoma10.1FZD4, NDP, RCBTB1, TSPAN12
18nystagmus 5, congenital, x-linked10.1FZD4, LRP5, NDP, TSPAN12
19biemond syndrome ii10.1FZD4, NDP, RCBTB1, TSPAN12
20van buchem disease, type 210.1FZD4, LRP5, NDP
21anterograde amnesia10.1FZD4, LRP5, NDP, TSPAN12
22albinism, oculocutaneous, type ib10.1FZD4, LRP5, NDP, TSPAN12
23vernal conjunctivitis10.1FZD4, LRP5, NDP, TSPAN12, ZNF408
24cornea plana10.0FZD4, NDP, TSPAN12
25osteoporosis10.0
26digeorge syndrome10.0
27coats disease10.0
28choroiditis10.0
29myopia10.0
30cystic fibrosis9.8
31osteoporosis-pseudoglioma syndrome9.8
32cutis marmorata telangiectatica congenita9.8
33cataract9.8
34lymphedema9.8
35spinal muscular atrophy9.8
36cone dystrophy9.8
37persistent hyperplastic primary vitreous9.8
38open-angle glaucoma9.8
39microcephaly9.8
40anisometropia9.8
41dyskeratosis congenita9.8
42macular holes9.8
43muscular atrophy9.8
44chorioretinitis9.8
45hypermethioninemia8.3CAMK2G, CRYZL1, DUP22Q11.2, EVR3, FZD1, FZD4

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



Diseases related to exudative vitreoretinopathy

Symptoms & Phenotypes for Exudative Vitreoretinopathy

About this section

GenomeRNAi Phenotypes related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00193-A-310.4CAMK2G, FZD1, FZD7

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4FZD1, FZD4, FZD7, LRP5, NDP
2MP:00053809.1FZD1, FZD4, FZD5, FZD6, FZD7, KIF11

Drugs & Therapeutics for Exudative Vitreoretinopathy

About this section

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

About this section

Genetic tests related to Exudative Vitreoretinopathy:

id Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy27 24 FZD4, LRP5, NDP
2 Exudative Vitreoretinopathy27

Anatomical Context for Exudative Vitreoretinopathy

About this section

MalaCards organs/tissues related to Exudative Vitreoretinopathy:

36
Retina, Eye, Testes

Publications for Exudative Vitreoretinopathy

About this section

Articles related to Exudative Vitreoretinopathy:

(show top 50)    (show all 175)
idTitleAuthorsYear
1
RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. (27685501)
2017
2
Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy. (27228167)
2016
3
Pharmacologic Activation of Wnt Signaling by Lithium Normalizes Retinal Vasculature in a Murine Model of Familial Exudative Vitreoretinopathy. (27524797)
2016
4
Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation. (27486893)
2016
5
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
6
Anatomical and functional outcomes following vitrectomy for advanced familial exudative vitreoretinopathy: a single surgeon's experience. (27793819)
2016
7
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. (26908610)
2016
8
Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR). (28002565)
2016
9
Ultra-wide-field scanning laser ophthalmoscopy assists in the clinical detection and evaluation of asymptomatic early-stage familial exudative vitreoretinopathy. (27416933)
2016
10
Electroretinographic effects of retinal dragging and retinal folds in eyes with familial exudative vitreoretinopathy. (27456314)
2016
11
Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis. (27212378)
2016
12
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy. (27720678)
2016
13
Retinopathy of Prematurity Versus Familial Exudative Vitreoretinopathy: Report on Clinical and Angiographic Findings. (26731204)
2016
14
Novel mutations in FZD4 and phenotype-genotype correlation in Chinese patients with familial exudative vitreoretinopathy. (27555740)
2016
15
DISTINCTIVE WHITE FUNDUS LESIONS IN FAMILIAL EXUDATIVE VITREORETINOPATHY: A NEWLY CHARACTERIZED CLINICAL FEATURE. (27648585)
2016
16
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy. (27668459)
2016
17
Simultaneous Novel Mutations of LRP5 and TSPAN12 in a Case of Familial Exudative Vitreoretinopathy. (27007396)
2016
18
INCREASED POSTERIOR RETINAL VESSELS IN MILD ASYMPTOMATIC FAMILIAL EXUDATIVE VITREORETINOPATHY EYES. (26655609)
2016
19
Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy. (26933893)
2016
20
Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis. (27746066)
2016
21
SURGICAL MANAGEMENT OF ADVANCED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH COMPLICATIONS. (26807630)
2016
22
CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype. (26967979)
2016
23
Familial Exudative Vitreoretinopathy: Spectral-Domain Optical Coherence Tomography ofA theA Vitreoretinal Interface, Retina, and Choroid. (26299697)
2015
24
Structure and Morphology of Radial Retinal Folds with Familial Exudative Vitreoretinopathy. (26477845)
2015
25
Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy. (26244290)
2015
26
Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy. (26109022)
2015
27
Familial Exudative Vitreoretinopathy: Presentation in the First Week of Life. (26431558)
2015
28
A case of familial exudative vitreoretinopathy identified after genetic testing. (25828824)
2015
29
Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. (26530129)
2015
30
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. (25711638)
2015
31
KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. (26472404)
2015
32
The Intracellular Loop 2 F328S Frizzled-4 Mutation Implicated in Familial Exudative Vitreoretinopathy Impairs Dishevelled Recruitment. (27096003)
2015
33
Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. (25352738)
2014
34
Familial exudative vitreoretinopathy mimicking macular telangiectasia type 1. (24513378)
2014
35
Surgical Outcomes of Progressive Tractional Retinal Detachment Associated With Familial Exudative Vitreoretinopathy. (25127701)
2014
36
An association between subclinical familial exudative vitreoretinopathy and rod-cone dystrophy. (25494382)
2014
37
Diversity of Retinal Vascular Anomalies in Patients with Familial Exudative Vitreoretinopathy. (25005911)
2014
38
Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy. (24715757)
2014
39
High Prevalence of Peripheral Retinal Vascular Anomalies in Family Members ofA Patients with Familial Exudative Vitreoretinopathy. (24084499)
2014
40
Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy. (24744206)
2014
41
Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by KIF11 Mutations. (25124931)
2014
42
Familial exudative vitreoretinopathy and related retinopathies. (25323851)
2014
43
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. (23716654)
2013
44
Asymmetric presentations of familial exudative vitreoretinopathy. (24082676)
2013
45
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant. (23834558)
2013
46
Familial exudative vitreoretinopathy presenting with unilateral rhegmatogenous retinal detachment in a Malay teenager. (23645703)
2013
47
Falciform Macular Folds and Chromosome 22q11.2: Evidence in Support of a Locus for Familial Exudative Vitreoretinopathy (FEVR). (23521024)
2013
48
Fluorescein angiography of a closing funnel retinal detachment in familial exudative vitreoretinopathy. (23929513)
2013
49
Traction retinal detachment under silicone oil treated with two-port, 25-gauge pars plana vitrectomy and scissor segmentation in a child with familial exudative vitreoretinopathy. (25391101)
2013
50
Simultaneous fzd4 and lrp5 mutation in autosomal dominant familial exudative vitreoretinopathy. (25390515)
2013

Variations for Exudative Vitreoretinopathy

About this section

Clinvar genetic disease variations for Exudative Vitreoretinopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RCBTB1NM_ 018191.3(RCBTB1): c.1172+1G> ASNVLikely pathogenicrs869312819GRCh37Chr 13, 50118872: 50118872
2FZD4NM_ 012193.3(FZD4): c.313A> G (p.Met105Val)SNVPathogenicrs80358284GRCh38Chr 11, 86952443: 86952443
3FZD4NM_ 012193.3(FZD4): c.1282_ 1285delGACA (p.Asp428Serfs)deletionPathogenicrs80358295GRCh37Chr 11, 86662513: 86662516

Expression for genes affiliated with Exudative Vitreoretinopathy

About this section
Search GEO for disease gene expression data for Exudative Vitreoretinopathy.

Pathways for genes affiliated with Exudative Vitreoretinopathy

About this section

Pathways related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

(show all 32)
idSuper pathwaysScoreTop Affiliating Genes
110.1FZD6, LRP5
29.7FZD4, FZD5, FZD8
39.6FZD1, FZD4, FZD5, FZD9
4
Show member pathways
9.6FZD1, FZD4, FZD5, FZD9
59.5FZD1, FZD7, FZD8
6
Show member pathways
9.3FZD4, FZD5, FZD6, FZD8, LRP5
7
Show member pathways
9.3CAMK2G, FZD1, FZD4, FZD5, FZD9
89.3CAMK2G, FZD1, FZD4, FZD5, FZD9
9
Show member pathways
9.1FZD1, FZD4, FZD5, FZD6, FZD8, LRP5
10
Show member pathways
8.7FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
118.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
12
Show member pathways
8.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
138.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
14
Show member pathways
8.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
15
Show member pathways
8.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
168.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
178.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
188.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
198.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
20
Show member pathways
8.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
218.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
228.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
238.4FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
248.4FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
25
Show member pathways
8.4FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
26
Show member pathways
8.4FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
278.4FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
288.3CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7
29
Show member pathways
8.3CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7
308.2CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7
31
Show member pathways
8.2CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7
32
Show member pathways
8.2CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7

GO Terms for genes affiliated with Exudative Vitreoretinopathy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1Wnt signalosomeGO:199090910.2FZD1, LRP5
2Wnt-Frizzled-LRP5/6 complexGO:199085110.0FZD8, LRP5
3cell surfaceGO:00099869.5FZD1, FZD4, FZD5, FZD6, FZD9, NDP

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1retinal blood vessel morphogenesisGO:006130410.9FZD4, LRP5
2regulation of canonical Wnt signaling pathwayGO:006082810.8FZD5, LRP5
3extracellular matrix-cell signalingGO:003542610.8FZD4, LRP5, NDP
4retina vasculature morphogenesis in camera-type eyeGO:006129910.7FZD4, LRP5, NDP
5negative regulation of cell-substrate adhesionGO:001081210.7FZD4, FZD7
6vasculature developmentGO:000194410.7FZD5, LRP5
7non-canonical Wnt signaling pathwayGO:003556710.6FZD6, FZD7
8beta-catenin destruction complex disassemblyGO:190488610.6FZD1, FZD5, LRP5
9Wnt signaling pathway involved in dorsal/ventral axis specificationGO:004433210.6FZD5, LRP5
10positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.5FZD1, FZD4, LRP5, NDP
11positive regulation of JUN kinase activityGO:004350710.5FZD4, FZD5, FZD8
12Wnt signaling pathway, calcium modulating pathwayGO:000722310.3FZD4, FZD5, FZD6
13T cell differentiation in thymusGO:003307710.1FZD5, FZD7, FZD8
14positive regulation of transcription, DNA-templatedGO:004589310.1FZD1, FZD4, FZD7, LRP5, NDP
15neuron differentiationGO:00301829.9FZD1, FZD4, FZD5, FZD7, FZD8
16canonical Wnt signaling pathwayGO:00600709.6FZD1, FZD4, FZD5, FZD7, FZD8, LRP5
17G-protein coupled receptor signaling pathwayGO:00071869.4FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
18Wnt signaling pathway, planar cell polarity pathwayGO:00600719.2FZD1, FZD4, FZD5, FZD6, FZD7
19cell surface receptor signaling pathwayGO:00071669.2FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
20signal transductionGO:00071659.1FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
21multicellular organism developmentGO:00072758.9CAMK2G, FZD1, FZD4, FZD5, FZD6, FZD7
22Wnt signaling pathwayGO:00160558.8FZD1, FZD4, FZD5, FZD6, FZD7, FZD8

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1frizzled bindingGO:000510910.5FZD1, FZD7, NDP
2PDZ domain bindingGO:003016510.1FZD1, FZD4, FZD7, FZD8
3ubiquitin protein ligase bindingGO:00316259.9FZD4, FZD5, FZD6, FZD8
4signal transducer activityGO:00048719.7FZD1, FZD4, FZD5, FZD6, FZD8, FZD9
5G-protein coupled receptor activityGO:00049309.3FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
6transmembrane signaling receptor activityGO:00048889.2FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
7Wnt-activated receptor activityGO:00428138.6FZD1, FZD4, FZD5, FZD6, FZD7, FZD8
8Wnt-protein bindingGO:00171478.4FZD1, FZD4, FZD5, FZD6, FZD7, FZD8

Sources for Exudative Vitreoretinopathy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet