Details of Disease

General Information of Disease (ID: DIS2XPWB)

Disease Name Epithelial recurrent erosion dystrophy
Synonyms corneal erosions, recurring hereditary; epithelial recurrent erosion dystrophy; dystrophia Helsinglandica; dystrophia Smolandiensis; recurrent hereditary corneal erosions; ERED
Definition
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
Disease Hierarchy
DISYKSRF: Genetic disease
DISPFJ0G: Superficial corneal dystrophy
DIS2XPWB: Epithelial recurrent erosion dystrophy
Disease Identifiers
MONDO ID
MONDO_0007381
MESH ID
C565155
UMLS CUI
C1852551
OMIM ID
122400
MedGen ID
342263
Orphanet ID
293381
SNOMED CT ID
715908008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DNAJC9 OTDBQBNZ Strong Biomarker [1]
TAS2R14 OTWA9CYC Strong Genetic Variation [1]
TRIB1 OTPEO17G Strong Genetic Variation [1]
COL17A1 OTID5AH2 Definitive Autosomal dominant [1]
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References

1 A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. Ophthalmology. 2016 Apr;123(4):709-22. doi: 10.1016/j.ophtha.2015.12.008. Epub 2016 Jan 16.