EVR7
MCID: EXD012
MIFTS: 20

Exudative Vitreoretinopathy 7 (EVR7)

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

Aliases & Classifications for Exudative Vitreoretinopathy 7

MalaCards integrated aliases for Exudative Vitreoretinopathy 7:

Name: Exudative Vitreoretinopathy 7 58 12 30 6
Evr7 58 76
Vitreoretinopathy, Exudative 7 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


Classifications:



External Ids:

Disease Ontology 12 DOID:0080264
OMIM 58 617572
MeSH 45 D012164

Summaries for Exudative Vitreoretinopathy 7

UniProtKB/Swiss-Prot : 76 Vitreoretinopathy, exudative 7: A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.

MalaCards based summary : Exudative Vitreoretinopathy 7, is also known as evr7. An important gene associated with Exudative Vitreoretinopathy 7 is CTNNB1 (Catenin Beta 1). Affiliated tissues include retina and eye, and related phenotypes are nystagmus and retinal degeneration

Description from OMIM: 617572

Related Diseases for Exudative Vitreoretinopathy 7

Symptoms & Phenotypes for Exudative Vitreoretinopathy 7

Human phenotypes related to Exudative Vitreoretinopathy 7:

33
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 retinal degeneration 33 HP:0000546
3 vitreoretinopathy 33 HP:0007773
4 retinal hole 33 HP:0011530

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
abnormal retinal vessels
reduced vision
retinal holes
retinal avascularity
more

Clinical features from OMIM:

617572

Drugs & Therapeutics for Exudative Vitreoretinopathy 7

Search Clinical Trials , NIH Clinical Center for Exudative Vitreoretinopathy 7

Genetic Tests for Exudative Vitreoretinopathy 7

Genetic tests related to Exudative Vitreoretinopathy 7:

# Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 7 30 CTNNB1

Anatomical Context for Exudative Vitreoretinopathy 7

MalaCards organs/tissues related to Exudative Vitreoretinopathy 7:

42
Retina, Eye

Publications for Exudative Vitreoretinopathy 7

Variations for Exudative Vitreoretinopathy 7

ClinVar genetic disease variations for Exudative Vitreoretinopathy 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTNNB1 NM_001904.3(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 GRCh37 Chromosome 3, 41279558: 41279558
2 CTNNB1 NM_001904.3(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 GRCh38 Chromosome 3, 41238067: 41238067
3 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh37 Chromosome 3, 41280629: 41280644
4 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh38 Chromosome 3, 41239138: 41239153

Expression for Exudative Vitreoretinopathy 7

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 7.

Pathways for Exudative Vitreoretinopathy 7

GO Terms for Exudative Vitreoretinopathy 7

Sources for Exudative Vitreoretinopathy 7

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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