Details of Disease | DrugMAP

General Information of Disease (ID: DIS9JV4P)

Disease Name	Congenital stromal corneal dystrophy
Synonyms	corneal dystrophy, congenital stromal; congenital stromal corneal dystrophy; CSCD; congenital hereditary stromal dystrophy; Witschel dystrophy
Definition	Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
Disease Hierarchy	DISYKSRF: Genetic disease DIS41FDX: Stromal corneal dystrophy DIS9JV4P: Congenital stromal corneal dystrophy
Disease Identifiers	MONDO ID MONDO_0012401 MESH ID C566452 UMLS CUI C1864738 OMIM ID 610048 MedGen ID 400601 Orphanet ID 101068 SNOMED CT ID 702359002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DCN	TTB3XAN	Strong	Biomarker	[1]
DCN	TTB3XAN	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DCN	OTWLJL7K	Definitive	Autosomal dominant	[2]
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References

1	Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin.Invest Ophthalmol Vis Sci. 2015 May;56(5):2909-15. doi: 10.1167/iovs.14-16014.
2	Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. Cornea. 2002 Jan;21(1):118-20. doi: 10.1097/00003226-200201000-00025.