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Echinobase
Summary Literature (0)
DOID:8943 - lattice corneal dystrophy

Disease Ontology Definition:An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface.

Synonyms: familial amyloid neuropathy, Finnish type,

Echinobase Genes :


OMIM:
MIM:122200 - corneal dystrophy, lattice type i; lcd1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), epithelial-stromal TGFBI dystrophy (is_a)