Details of Disease

General Information of Disease (ID: DISAQYUB)

Disease Name Corneal dystrophy, Fuchs endothelial, 3
Synonyms
Fcd2 locus; FECD3; corneal dystrophy, Fuchs endothelial, late-onset; corneal dystrophy, Fuchs endothelial, 3; corneal dystrophy, Fuchs endothelial, type 3; TCF4 Fuchs' endothelial dystrophy; Fuchs' endothelial dystrophy caused by mutation in TCF4
Definition Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.
Disease Hierarchy
DISL7TXC: Fuchs' endothelial dystrophy
DISAQYUB: Corneal dystrophy, Fuchs endothelial, 3
Disease Identifiers
MONDO ID
MONDO_0013203
UMLS CUI
C2750451
OMIM ID
613267
MedGen ID
442479

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TCF4 OTB9ASTK Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.