Details of Disease

General Information of Disease (ID: DISHQ6Q1)

Disease Name Exudative vitreoretinopathy 4
Synonyms EVR4; exudative vitreoretinopathy type 4; exudative vitreoretinopathy 4
Disease Hierarchy
DISVGTB6: LRP5-related exudative vitreoretinopathy
DISHQ6Q1: Exudative vitreoretinopathy 4
Disease Identifiers
MONDO ID
MONDO_0011151
MESH ID
C566619
UMLS CUI
C1866176
OMIM ID
601813
MedGen ID
356171

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
LRP5 TT7VMG4 moderate Biomarker [1]
LRP5 TT7VMG4 Definitive Semidominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LRP5 OTCC4JPH Definitive Semidominant [2]
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References

1 Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.Genet Test Mol Biomarkers. 2017 Dec;21(12):742-746. doi: 10.1089/gtmb.2017.0118. Epub 2017 Nov 13.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.