Details of Disease

General Information of Disease (ID: DIS7XDS6)

Disease Name Congenital hereditary endothelial dystrophy type I
Synonyms congenital hereditary endothelial dystrophy type 1; autosomal dominant congenital hereditary endothelial dystrophy; autosomal dominant CHED; CHED1; CHEDI
Definition
Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.
Disease Hierarchy
DISR4JFO: Posterior corneal dystrophy
DIS7XDS6: Congenital hereditary endothelial dystrophy type I
Disease Identifiers
MONDO ID
MONDO_0020365
UMLS CUI
C1562945
MedGen ID
736888
Orphanet ID
98975
SNOMED CT ID
416633008

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
OVOL2 OTFM1GKF Supportive Autosomal dominant [1]
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References

1 Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. Am J Hum Genet. 2016 Jan 7;98(1):75-89. doi: 10.1016/j.ajhg.2015.11.018. Epub 2015 Dec 31.