EVR3
MCID: EXD007
MIFTS: 21

Exudative Vitreoretinopathy 3 (EVR3)

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

Aliases & Classifications for Exudative Vitreoretinopathy 3

MalaCards integrated aliases for Exudative Vitreoretinopathy 3:

Name: Exudative Vitreoretinopathy 3 57 72
Exudative Vitreoretinopathy-3 13
Evr3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
retinal holes were present in an asymptomatic female carrier
based on report of 1 large 6-generation family (last curated july 2015)


HPO:

32
exudative vitreoretinopathy 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MedGen 42 C1854002
UMLS 72 C1854002

Summaries for Exudative Vitreoretinopathy 3

OMIM : 57 Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (133780). (605750)

MalaCards based summary : Exudative Vitreoretinopathy 3, also known as exudative vitreoretinopathy-3, is related to exudative vitreoretinopathy and vitreoretinopathy. An important gene associated with Exudative Vitreoretinopathy 3 is EVR3 (Exudative Vitreoretinopathy 3). Affiliated tissues include retina, and related phenotypes are reduced visual acuity and retinal detachment

Related Diseases for Exudative Vitreoretinopathy 3

Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 1 Exudative Vitreoretinopathy 4
Exudative Vitreoretinopathy 3 Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 6 Exudative Vitreoretinopathy 7

Diseases related to Exudative Vitreoretinopathy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 11.8
2 vitreoretinopathy 11.7
3 exudative vitreoretinopathy 4 10.2
4 exudative vitreoretinopathy 5 10.2

Symptoms & Phenotypes for Exudative Vitreoretinopathy 3

Human phenotypes related to Exudative Vitreoretinopathy 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663
2 retinal detachment 32 HP:0000541
3 exudative vitreoretinopathy 32 HP:0030490
4 retinal fold 32 HP:0008052
5 retinal exudate 32 HP:0001147
6 retinal hole 32 HP:0011530

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinal detachment
retinal exudate
decreased visual acuity
retinal folds
dragged macula
more

Clinical features from OMIM:

605750

Drugs & Therapeutics for Exudative Vitreoretinopathy 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Familial Exudative Vitreoretinopathy Clinical and Molecular Studies Completed NCT00106756

Search NIH Clinical Center for Exudative Vitreoretinopathy 3

Genetic Tests for Exudative Vitreoretinopathy 3

Anatomical Context for Exudative Vitreoretinopathy 3

MalaCards organs/tissues related to Exudative Vitreoretinopathy 3:

41
Retina

Publications for Exudative Vitreoretinopathy 3

Articles related to Exudative Vitreoretinopathy 3:

# Title Authors PMID Year
1
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 8
20159112 2010
2
A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. 8
11179025 2001
3
Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree. 8
10729291 2000
4
Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. 38
21850187 2011
5
Familial Exudative Vitreoretinopathy, Autosomal Dominant 38
20301326 2005
6
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. 38
15665352 2005
7
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). 38
14737064 2004
8
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 38
12172548 2002

Variations for Exudative Vitreoretinopathy 3

Expression for Exudative Vitreoretinopathy 3

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 3.

Pathways for Exudative Vitreoretinopathy 3

GO Terms for Exudative Vitreoretinopathy 3

Sources for Exudative Vitreoretinopathy 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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