Details of Disease

General Information of Disease (ID: DIS41FDX)

Disease Name Stromal corneal dystrophy
Synonyms stromal dystrophy; corneal stromal dystrophy; substantia propria of cornea corneal dystrophy (disease); corneal dystrophy (disease) of substantia propria of cornea
Definition
The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.
Disease Hierarchy
DISRDPA6: Corneal dystrophy
DIS41FDX: Stromal corneal dystrophy
Disease Identifiers
MONDO ID
MONDO_0020213
MESH ID
D003317
UMLS CUI
C0038457
MedGen ID
20973
Orphanet ID
98626
SNOMED CT ID
231931001

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
MATN4 OT0CD0VH Strong Altered Expression [1]
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References

1 Fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 are strongly expressed in the epithelium of human granular and lattice type I corneal dystrophies.Mol Vis. 2012;18:1927-36. Epub 2012 Jul 18.