Corneal dystrophy, Fleck

Disease ID:1130
Name:Corneal dystrophy, Fleck
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
CFD | corneal dystrophy, Francois-Neetens speckled ro flecked
Description
A rare, autosomal dominant disease which causes the formation of numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma. A few patients present with photophobia, but the majority are asymptomatic.
Database Links
OMIM: 121850

Targets

phosphoinositide kinase, FYVE-type zinc finger containing
Role:  The PIKFYVE protein kinase regulates the sorting and traffic of peripheral endosomes that contain lysosomally directed fluid phase cargo, by controlling the morphogenesis and function of multivesicular bodies. Mutations in the gene are associated with CFD, and appear to cause symptomatic corneal flecks composed of abnormal keratinocytes swollen with intracytoplasmic vesicles containing complex lipids and glycosaminoglycans.
References:  1-3
Mutations:  phosphoinositide kinase, FYVE-type zinc finger containing is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Corneal dystrophy, Fleck

References

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1. Kawasaki S, Yamasaki K, Nakagawa H, Shinomiya K, Nakatsukasa M, Nakai Y, Kinoshita S. (2012) A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy. Mol. Vis., 18: 2954-60. [PMID:23288988]

2. Li S, Tiab L, Jiao X, Munier FL, Zografos L, Frueh BE, Sergeev Y, Smith J, Rubin B, Meallet MA et al.. (2005) Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy. Am. J. Hum. Genet., 77 (1): 54-63. [PMID:15902656]

3. Nicholson DH, Green WR, Cross HE, Kenyon KR, Massof D. (1977) A clinical and histopathological study of François-Neetens speckled corneal dystrophy. Am. J. Ophthalmol., 83 (4): 554-60. [PMID:141212]