Details of Disease | DrugMAP

General Information of Disease (ID: DIST4WI6)

Disease Name	Corneal dystrophy, Meesmann, 1
Synonyms	Corneal Dystrophy, Meesmann Epithelial; CORNEAL DYSTROPHY, MEESMANN, 1; MECD1; Meesmann Corneal Dystrophy; Corneal Dystrophy, Juvenile Epithelial, of Meesmann; meesmann corneal dystrophy 1
Disease Hierarchy	DISJFWTC: Meesmann corneal dystrophy DIST4WI6: Corneal dystrophy, Meesmann, 1
Disease Identifiers	MONDO ID MONDO_0020791 UMLS CUI C5231499 OMIM ID 122100 MedGen ID 1684668

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT3	OT5U1Y8L	Strong	Autosomal dominant	[1]
KRT12	OTFOWNH2	Definitive	Autosomal dominant	[2]
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References

1	Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. Cornea. 2005 Nov;24(8):928-32. doi: 10.1097/01.ico.0000159732.29930.26.
2	Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. Am J Hum Genet. 1997 Dec;61(6):1268-75. doi: 10.1086/301650.