Details of Disease

General Information of Disease (ID: DISRC9YA)

Disease Name Exudative vitreoretinopathy 1
Synonyms
EVR1; FEVR, autosomal dominant; Criswick-Schepens syndrome; exudative vitreoretinopathy, familial, autosomal dominant; retinopathy of prematurity; exudative vitreoretinopathy 1; exudative vitreoretinopathy type 1
Disease Hierarchy
DISWN0TG: Exudative vitreoretinopathy
DISRC9YA: Exudative vitreoretinopathy 1
Disease Identifiers
MONDO ID
MONDO_0007589
MESH ID
C536382
UMLS CUI
C1851402
OMIM ID
133780
MedGen ID
343561

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CTNNB1 TTRPKQG Strong GermlineCausalMutation [1]
LRP5 TT7VMG4 Strong Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TSPAN12 OTF9I3CX moderate Genetic Variation [3]
FZD4 OTGLZIE0 Definitive Autosomal dominant [4]
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References

1 Defects in the Cell Signaling Mediator -Catenin Cause the Retinal Vascular Condition FEVR. Am J Hum Genet. 2017 Jun 1;100(6):960-968. doi: 10.1016/j.ajhg.2017.05.001.
2 Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.Genet Test Mol Biomarkers. 2016 Jul;20(7):346-51. doi: 10.1089/gtmb.2015.0322. Epub 2016 May 26.
3 Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012.
4 Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene. Arch Ophthalmol. 2009 Dec;127(12):1649-54. doi: 10.1001/archophthalmol.2009.322.