Details of Disease | DrugMAP

General Information of Disease (ID: DIS7T822)

Disease Name	Autosomal dominant keratitis
Synonyms	keratitis, hereditary; dominantly inherited keratitis; hereditary keratitis; keratitis, autosomal dominant
Definition	Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.
Disease Hierarchy	DISMFOEI: Keratitis DIS3HIWD: Autosomal dominant disease DISRDPA6: Corneal dystrophy DIS7T822: Autosomal dominant keratitis
Disease Identifiers	MONDO ID MONDO_0007848 MESH ID C537022 UMLS CUI C1835698 OMIM ID 148190 MedGen ID 332039 Orphanet ID 2334 SNOMED CT ID 715339004

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
PAX6	OTOC9876	Definitive	Autosomal dominant	[1]
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References

1	Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet. 1995 Sep;57(3):539-48.