Details of Disease

General Information of Disease (ID: DISAYSN1)

Disease Name Schnyder corneal dystrophy
Synonyms
corneal dystrophy, Schnyder; corneal dystrophy, crystalline, of Schnyder; corneal dystrophy crystalline of Schnyder; SCD; corneal dystrophy, Schnyder type; hereditary crystalline stromal dystrophy of Schnyder; SCCD; Schnyder crystalline dystrophy sine crystals; Schnyder crystalline corneal dystrophy; crystalline stromal dystrophy; Schnyder corneal dystrophy
Definition Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS41FDX: Stromal corneal dystrophy
DISAYSN1: Schnyder corneal dystrophy
Disease Identifiers
MONDO ID
MONDO_0007374
MESH ID
C535475
UMLS CUI
C0271287
OMIM ID
121800
MedGen ID
124391
HPO ID
HP:0007760
Orphanet ID
98967
SNOMED CT ID
39662004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UBIAD1 OTRUQ2N8 Definitive Autosomal dominant [1]
NABP2 OTQU8081 Strong Biomarker [2]
SPSB1 OTGY26U4 Strong Biomarker [2]
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References

1 Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. J Ophthalmol. 2016;2016:1968493. doi: 10.1155/2016/1968493. Epub 2016 Jun 12.
2 Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy.Mol Vis. 2005 Sep 2;11:713-6.