EVR3
MCID: EXD007
MIFTS: 19

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 58 13 74
Evr3 58

Characteristics:

OMIM:

58
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:

33
exudative vitreoretinopathy 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Exudative Vitreoretinopathy 3

OMIM : 58 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 perrault syndrome 1. 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 11.7
2 perrault syndrome 1 11.1

Symptoms & Phenotypes for Exudative Vitreoretinopathy 3

Human phenotypes related to Exudative Vitreoretinopathy 3:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 HP:0007663
2 retinal detachment 33 HP:0000541
3 retinal exudate 33 HP:0001147
4 retinal fold 33 HP:0008052
5 exudative vitreoretinopathy 33 HP:0030490
6 retinal hole 33 HP:0011530

Symptoms via clinical synopsis from OMIM:

58
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

Search Clinical Trials , 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:

42
Retina

Publications for Exudative Vitreoretinopathy 3

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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