Details of Disease | DrugMAP

General Information of Disease (ID: DISTUHYE)

Disease Name	Epithelial basement membrane dystrophy
Synonyms	corneal dystrophy, Map-Dot-Fingerprint type; corneal dystrophy, microcystic; Map-dot-fingerprint dystrophy of cornea; microcystic dystrophy of the cornea; corneal dystrophy, anterior basement Membrane; corneal dystrophy, epithelial basement MEMBRANE; epithelial basement membrane corneal dystrophy; Cogan corneal dystrophy; Cogan microcystic epithelial dystrophy; Map-dot-fingerprint dystrophy; anterior basement membrane dystrophy; microcystic corneal dystrophy; EBMD
Disease Hierarchy	DISW3W2N: Epithelial and subepithelial corneal dystrophy DISPFJ0G: Superficial corneal dystrophy DISZSUUG: Epithelial-stromal TGFBI dystrophy DISTUHYE: Epithelial basement membrane dystrophy
Disease Identifiers	MONDO ID MONDO_0007375 MESH ID C535477 UMLS CUI C0521723 OMIM ID 121820 MedGen ID 99275 HPO ID HP:0007690 Orphanet ID 98956 SNOMED CT ID 373426005

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
TGFBI	OTR443C5	Supportive	Autosomal dominant	[1]
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References

1	A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat. 2006 Jun;27(6):553-7. doi: 10.1002/humu.20331.