MCID: EXD010
MIFTS: 19

Exudative Vitreoretinopathy 6

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

Aliases & Classifications for Exudative Vitreoretinopathy 6

MalaCards integrated aliases for Exudative Vitreoretinopathy 6:

Name: Exudative Vitreoretinopathy 6 57 29 6
Evr6 57 75
Vitreoretinopathy, Exudative, Type 6 40
Vitreoretinopathy, Exudative 6 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
exudative vitreoretinopathy 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Exudative Vitreoretinopathy 6

UniProtKB/Swiss-Prot : 75 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 related phenotypes are cataract and progressive visual loss

Description from OMIM: 616468

Related Diseases for Exudative Vitreoretinopathy 6

Symptoms & Phenotypes for Exudative Vitreoretinopathy 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased visual acuity, progressive
myopia
lens opacities (rare)
stretched-appearing retinal vessels, especially temporally
terminal ramifications of retinal vessels in temporal equatorial zone
more

Clinical features from OMIM:

616468

Human phenotypes related to Exudative Vitreoretinopathy 6:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cataract 32 occasional (7.5%) HP:0000518
2 progressive visual loss 32 HP:0000529
3 myopia 32 HP:0000545
4 chorioretinal atrophy 32 occasional (7.5%) HP:0000533
5 posterior vitreous detachment 32 HP:0001489
6 exudative vitreoretinopathy 32 HP:0030490

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:

41
Retina

Publications for Exudative Vitreoretinopathy 6

Variations for Exudative Vitreoretinopathy 6

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

75
# 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 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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