EVR6
MCID: EXD010
MIFTS: 29

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 57 12 29 6 15
Evr6 57 12 72
Vitreoretinopathy, Exudative, Type 6 39
Vitreoretinopathy, Exudative 6 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
exudative vitreoretinopathy 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111410
OMIM® 57 616468
OMIM Phenotypic Series 57 PS133780
MeSH 44 D012164

Summaries for Exudative Vitreoretinopathy 6

UniProtKB/Swiss-Prot : 72 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, also known as evr6, is related to kidney angiomyolipoma and subependymal glioma. An important gene associated with Exudative Vitreoretinopathy 6 is ZNF408 (Zinc Finger Protein 408), and among its related pathways/superpathways are mTOR signalling and Sirolimus Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include retina, and related phenotypes are cataract and chorioretinal atrophy

Disease Ontology : 12 An exudative vitreoretinopathy that has material basis in heterozygous mutation in ZNF408 on chromosome 11p11.2.

More information from OMIM: 616468 PS133780

Related Diseases for Exudative Vitreoretinopathy 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kidney angiomyolipoma 9.7 MTOR FKBP1A
2 subependymal glioma 9.7 MTOR FKBP1A
3 benign ependymoma 9.7 MTOR FKBP1A
4 subependymal giant cell astrocytoma 9.6 MTOR FKBP1A
5 exudative vitreoretinopathy 1 9.6 ZNF408 MTOR
6 tuberous sclerosis 9.5 MTOR FKBP1A

Graphical network of the top 20 diseases related to Exudative Vitreoretinopathy 6:



Diseases related to Exudative Vitreoretinopathy 6

Symptoms & Phenotypes for Exudative Vitreoretinopathy 6

Human phenotypes related to Exudative Vitreoretinopathy 6:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cataract 31 occasional (7.5%) HP:0000518
2 chorioretinal atrophy 31 occasional (7.5%) HP:0000533
3 progressive visual loss 31 HP:0000529
4 myopia 31 HP:0000545
5 retinal detachment 31 HP:0000541
6 exudative vitreoretinopathy 31 HP:0030490
7 posterior vitreous detachment 31 HP:0001489

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Exudative Vitreoretinopathy 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.32 MTOR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.32 MTOR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.32 MTOR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.32 FKBP1A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.32 MTOR
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.32 FKBP1A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.32 FKBP1A MTOR
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.32 MTOR
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-90 9.32 FKBP1A

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 29 ZNF408

Anatomical Context for Exudative Vitreoretinopathy 6

MalaCards organs/tissues related to Exudative Vitreoretinopathy 6:

40
Retina

Publications for Exudative Vitreoretinopathy 6

Articles related to Exudative Vitreoretinopathy 6:

# Title Authors PMID Year
1
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. 6 57
23716654 2013
2
Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. 57 6
6897033 1982
3
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature. 6
29982478 2018
4
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 57
19324841 2009

Variations for Exudative Vitreoretinopathy 6

ClinVar genetic disease variations for Exudative Vitreoretinopathy 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZNF408 NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr) SNV Pathogenic 204314 rs373273223 GRCh37: 11:46726613-46726613
GRCh38: 11:46705063-46705063
2 ZNF408 NM_024741.3(ZNF408):c.943C>T (p.Gln315Ter) SNV Likely pathogenic 931150 GRCh37: 11:46726193-46726193
GRCh38: 11:46704643-46704643
3 ZNF408 NM_024741.3(ZNF408):c.377G>A (p.Ser126Asn) SNV Uncertain significance 204315 rs536561101 GRCh37: 11:46724300-46724300
GRCh38: 11:46702750-46702750

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

72
# Symbol AA change Variation ID SNP ID
1 ZNF408 p.His455Tyr VAR_074613 rs373273223

Expression for Exudative Vitreoretinopathy 6

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

Pathways for Exudative Vitreoretinopathy 6

Pathways related to Exudative Vitreoretinopathy 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 MTOR FKBP1A
2 9.8 MTOR FKBP1A

GO Terms for Exudative Vitreoretinopathy 6

Biological processes related to Exudative Vitreoretinopathy 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart morphogenesis GO:0003007 8.62 MTOR FKBP1A

Molecular functions related to Exudative Vitreoretinopathy 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.62 STAC FKBP1A

Sources for Exudative Vitreoretinopathy 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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