MCID: EXD012
MIFTS: 17

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 57 12 6
Evr7 57 75
Vitreoretinopathy, Exudative 7 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 57 617572
Disease Ontology 12 DOID:0080264
MeSH 44 D012164

Summaries for Exudative Vitreoretinopathy 7

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 617572

Related Diseases for Exudative Vitreoretinopathy 7

Symptoms & Phenotypes for Exudative Vitreoretinopathy 7

Symptoms via clinical synopsis from OMIM:

57
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:

41
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_2157dup16 (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh37 Chromosome 3, 41280629: 41280644
4 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup16 (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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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