Details of Disease

General Information of Disease (ID: DISREWXU)

Disease Name Granular corneal dystrophy type I
Synonyms
granular corneal dystrophy, type 1; corneal dystrophy granular type; corneal dystrophy, Groenouw type I; corneal dystrophy, punctate or nodular; Groenouw type I corneal dystrophy; corneal dystrophy punctate or nodular; corneal dystrophy, Groenouw type 1; CDGG1; GCD1; classic granular corneal dystrophy; classic GCD; granular corneal dystrophy type 1; corneal dystrophy Groenouw type I; GCDI
Definition
Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.
Disease Hierarchy
DISZSUUG: Epithelial-stromal TGFBI dystrophy
DIS41FDX: Stromal corneal dystrophy
DISREWXU: Granular corneal dystrophy type I
Disease Identifiers
MONDO ID
MONDO_0007377
MESH ID
C537304
UMLS CUI
C1641846
OMIM ID
121900
MedGen ID
351521
Orphanet ID
98962
SNOMED CT ID
419039007

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 Definitive Autosomal dominant [1]
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References

1 BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54.