MCID: EXD012
MIFTS: 16

Exudative Vitreoretinopathy 7

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

Aliases & Classifications for Exudative Vitreoretinopathy 7

MalaCards integrated aliases for Exudative Vitreoretinopathy 7:

Name: Exudative Vitreoretinopathy 7 53
Evr7 53 71
Vitreoretinopathy, Exudative 7 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 53 617572
MedGen 39 CN321863
MeSH 41 D012164

Summaries for Exudative Vitreoretinopathy 7

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 617572

Related Diseases for Exudative Vitreoretinopathy 7

Symptoms & Phenotypes for Exudative Vitreoretinopathy 7

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
reduced vision
nystagmus
abnormal retinal vessels
retinal avascularity
proliferative vitreoretinopathy
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

Anatomical Context for Exudative Vitreoretinopathy 7

MalaCards organs/tissues related to Exudative Vitreoretinopathy 7:

38
Retina

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.2142_2157dup16 (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh37 Chromosome 3, 41280629: 41280644

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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