Details of Disease | DrugMAP

General Information of Disease (ID: DISHIF57)

Disease Name	Corneal dystrophy, Fuchs endothelial, 4
Synonyms	FECD4; corneal dystrophy, Fuchs endothelial, late-onset; Fuchs' endothelial dystrophy caused by mutation in SLC4A11; SLC4A11 Fuchs' endothelial dystrophy; corneal dystrophy, Fuchs endothelial, type 4; corneal dystrophy, Fuchs endothelial, 4
Definition	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.
Disease Hierarchy	DISL7TXC: Fuchs' endothelial dystrophy DISHIF57: Corneal dystrophy, Fuchs endothelial, 4
Disease Identifiers	MONDO ID MONDO_0013204 UMLS CUI C2750450 OMIM ID 613268 MedGen ID 413309

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A11	DTH2J1G	moderate	Genetic Variation	[1]
SLC4A11	DTH2J1G	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC4A11	OTMMNQ2E	Strong	Autosomal dominant	[2]
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References

1	Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.J Hum Genet. 2014 Aug;59(8):444-53. doi: 10.1038/jhg.2014.55. Epub 2014 Jul 10.
2	Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11. Ophthalmic Genet. 2015;36(3):284-6. doi: 10.3109/13816810.2014.881510.