EVR3
MCID: EXD007
MIFTS: 23

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 56 12 71
Evr3 56 12
Exudative Vitreoretinopathy-3 13

Characteristics:

OMIM:

56
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:

31
exudative vitreoretinopathy 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111409
OMIM 56 605750
OMIM Phenotypic Series 56 PS133780
MedGen 41 C1854002
UMLS 71 C1854002

Summaries for Exudative Vitreoretinopathy 3

OMIM : 56 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 evr3, 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 eye, and related phenotypes are reduced visual acuity and retinal detachment

Disease Ontology : 12 An exudative vitreoretinopathy that has material basis in heterozygous mutation in a region on chromosome 11p13-p12.

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 retinal detachment 31 HP:0000541
3 exudative vitreoretinopathy 31 HP:0030490
4 retinal fold 31 HP:0008052
5 retinal exudate 31 HP:0001147
6 retinal hole 31 HP:0011530

Symptoms via clinical synopsis from OMIM:

56
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:

40
Retina, Eye

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. 56
20159112 2010
2
A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. 56
11179025 2001
3
Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree. 56
10729291 2000
4
The chloroplast metalloproteases VAR2 and EGY1 act synergistically to regulate chloroplast development in Arabidopsis. 61
31836664 2020
5
Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. 61
21850187 2011
6
Familial Exudative Vitreoretinopathy, Autosomal Dominant 61
20301326 2005
7
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. 61
15665352 2005
8
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). 61
14737064 2004
9
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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