Details of Disease

General Information of Disease (ID: DISNKVHC)

Disease Name Lattice corneal dystrophy type I
Synonyms
corneal dystrophy, lattice type I; LCD; CDL1; corneal dystrophy, lattice type 1; lattice corneal dystrophy, type 1; lattice corneal dystrophy type 1; Lcd1; Biber-Haab-Dimmer dystrophy; classic lattice corneal dystrophy; LCDI
Definition
Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.
Disease Hierarchy
DIS8KVEV: Lattice corneal dystrophy
DISZSUUG: Epithelial-stromal TGFBI dystrophy
DISNKVHC: Lattice corneal dystrophy type I
Disease Identifiers
MONDO ID
MONDO_0007380
MESH ID
C537881
UMLS CUI
C1690006
OMIM ID
122200
MedGen ID
305533
Orphanet ID
98964
SNOMED CT ID
419197009

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
MATN4 OT0CD0VH Strong Biomarker [1]
GCDH OTVQMZZN Definitive Genetic Variation [2]
SLBP OTVYYQRT Definitive Altered Expression [3]
TGFBI OTR443C5 Definitive Autosomal dominant [4]
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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.
2 Corneal Dystrophy Mutations Drive Pathogenesis by Targeting TGFBIp Stability and Solubility in a Latent Amyloid-forming Domain.J Mol Biol. 2018 Apr 13;430(8):1116-1140. doi: 10.1016/j.jmb.2018.03.001. Epub 2018 Mar 7.
3 FEM1 proteins are ancient regulators of SLBP degradation.Cell Cycle. 2017 Mar 19;16(6):556-564. doi: 10.1080/15384101.2017.1284715. Epub 2017 Jan 24.
4 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.