Corneal Dystrophy, Lattice Type I malady
Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories
Aliases & Descriptions for Corneal Dystrophy, Lattice Type I:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Rare eye diseases
Characteristics (Orphanet epidemiological data):51
lattice corneal dystrophy type i:
Inheritance: Autosomal dominant; Age of onset: All ages
Genetics Home Reference:23 Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern.
MalaCards based summary: Corneal Dystrophy, Lattice Type I, also known as lattice corneal dystrophy type i, is related to corneal dystrophy and lattice corneal dystrophy, and has symptoms including autosomal dominant inheritance, recurrent corneal erosions and progressive visual loss. An important gene associated with Corneal Dystrophy, Lattice Type I is TGFBI (Transforming Growth Factor, Beta-Induced, 68kDa), and among its related pathways is Coregulation of Androgen receptor activity. Affiliated tissues include eye.
NIH Rare Diseases:45 Lattice corneal dystrophy is a type of stromal dystrophy. it is characterized by the build up of protein fibers (i.e., amyloid) in the stroma. symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain. most cases of lattice dystrophy are caused by mutations in the tgfbi gene. last updated: 5/29/2009
UniProtKB/Swiss-Prot:67 Corneal dystrophy, lattice type 1: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs.
Description from OMIM:49 122200
MalaCards organs/tissues related to Corneal Dystrophy, Lattice Type I:33
UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Lattice Type I:67 (show all 13)
Clinvar genetic disease variations for Corneal Dystrophy, Lattice Type I:5
Search GEO for disease gene expression data for Corneal Dystrophy, Lattice Type I.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet