Details of Disease

General Information of Disease (ID: DISOQIO0)

Disease Name Corneal dystrophy, Fuchs endothelial, 1
Synonyms
FECD1; corneal dystrophy, Fuchs endothelial, early-onset; corneal dystrophy, Fuchs endothelial, 1; corneal dystrophy, Fuchs endothelial, type 1; COL8A2 Fuchs' endothelial dystrophy; Fuchs' endothelial dystrophy caused by mutation in COL8A2
Definition Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.
Disease Hierarchy
DISL7TXC: Fuchs' endothelial dystrophy
DISOQIO0: Corneal dystrophy, Fuchs endothelial, 1
Disease Identifiers
MONDO ID
MONDO_0007637
MESH ID
C535478
UMLS CUI
C1850959
OMIM ID
136800
MedGen ID
338172

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GPR35 TT254XD Strong Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL8A2 OTASWJ69 Strong Autosomal dominant [2]
SBK1 OTCO4NEI Strong Biomarker [3]
TCF4 OTB9ASTK Strong Biomarker [4]
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References

1 The presence and distribution of G protein-coupled receptor 35 (GPR35) in the human cornea - Evidences from in silico gene expression analysis and immunodetection.Exp Eye Res. 2019 Feb;179:188-192. doi: 10.1016/j.exer.2018.11.011. Epub 2018 Nov 13.
2 British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. Br J Ophthalmol. 2007 Dec;91(12):1717-8. doi: 10.1136/bjo.2007.115154.
3 Results of Femtosecond Laser-Assisted Descemet Stripping Automated Endothelial Keratoplasty.J Ophthalmol. 2017;2017:8984367. doi: 10.1155/2017/8984367. Epub 2017 Jun 11.
4 Quantitative Studies of Muscleblind Proteins and Their Interaction With TCF4 RNA Foci Support Involvement in the Mechanism of Fuchs' Dystrophy.Invest Ophthalmol Vis Sci. 2019 Sep 3;60(12):3980-3991. doi: 10.1167/iovs.19-27641.