EVR6
MCID: EXD010
MIFTS: 22

Exudative Vitreoretinopathy 6 (EVR6)

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

Aliases & Classifications for Exudative Vitreoretinopathy 6

MalaCards integrated aliases for Exudative Vitreoretinopathy 6:

Name: Exudative Vitreoretinopathy 6 58 30 6
Evr6 58 76
Vitreoretinopathy, Exudative, Type 6 41
Vitreoretinopathy, Exudative 6 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 large dutch pedigree (last curated july 2015)


HPO:

33
exudative vitreoretinopathy 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Exudative Vitreoretinopathy 6

UniProtKB/Swiss-Prot : 76 Vitreoretinopathy, exudative 6: 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 6, is also known as evr6. An important gene associated with Exudative Vitreoretinopathy 6 is ZNF408 (Zinc Finger Protein 408). Affiliated tissues include retina and eye, and related phenotypes are cataract and chorioretinal atrophy

Description from OMIM: 616468

Related Diseases for Exudative Vitreoretinopathy 6

Symptoms & Phenotypes for Exudative Vitreoretinopathy 6

Human phenotypes related to Exudative Vitreoretinopathy 6:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cataract 33 occasional (7.5%) HP:0000518
2 chorioretinal atrophy 33 occasional (7.5%) HP:0000533
3 progressive visual loss 33 HP:0000529
4 myopia 33 HP:0000545
5 retinal detachment 33 HP:0000541
6 exudative vitreoretinopathy 33 HP:0030490
7 posterior vitreous detachment 33 HP:0001489

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
myopia
decreased visual acuity, progressive
chorioretinal atrophy (in some patients)
pigmentary abnormalities (in some patients)
lens opacities (rare)
more

Clinical features from OMIM:

616468

Drugs & Therapeutics for Exudative Vitreoretinopathy 6

Search Clinical Trials , NIH Clinical Center for Exudative Vitreoretinopathy 6

Genetic Tests for Exudative Vitreoretinopathy 6

Genetic tests related to Exudative Vitreoretinopathy 6:

# Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 6 30 ZNF408

Anatomical Context for Exudative Vitreoretinopathy 6

MalaCards organs/tissues related to Exudative Vitreoretinopathy 6:

42
Retina, Eye

Publications for Exudative Vitreoretinopathy 6

Articles related to Exudative Vitreoretinopathy 6:

# Title Authors Year
1
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature. ( 29982478 )
2018
2
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. ( 23716654 )
2013
3
Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. ( 6897033 )
1982

Variations for Exudative Vitreoretinopathy 6

UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 6:

76
# Symbol AA change Variation ID SNP ID
1 ZNF408 p.His455Tyr VAR_074613 rs373273223

ClinVar genetic disease variations for Exudative Vitreoretinopathy 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF408 NM_024741.2(ZNF408): c.1363C> T (p.His455Tyr) single nucleotide variant Pathogenic rs373273223 GRCh38 Chromosome 11, 46705063: 46705063
2 ZNF408 NM_024741.2(ZNF408): c.1363C> T (p.His455Tyr) single nucleotide variant Pathogenic rs373273223 GRCh37 Chromosome 11, 46726613: 46726613
3 ZNF408 NM_024741.2(ZNF408): c.377G> A (p.Ser126Asn) single nucleotide variant Uncertain significance rs536561101 GRCh38 Chromosome 11, 46702750: 46702750
4 ZNF408 NM_024741.2(ZNF408): c.377G> A (p.Ser126Asn) single nucleotide variant Uncertain significance rs536561101 GRCh37 Chromosome 11, 46724300: 46724300

Expression for Exudative Vitreoretinopathy 6

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 6.

Pathways for Exudative Vitreoretinopathy 6

GO Terms for Exudative Vitreoretinopathy 6

Sources for Exudative Vitreoretinopathy 6

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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