Preferred Label : Corneal dystrophy, fleck;
Symbol : CFD;
CISMeF acronym : CFD; FCD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Corneal dystrophy, francois-neetens speckled or flecked; FCD; Fleck corneal dystrophy;
Description : Fleck corneal dystrophy (CFD) is a rare autosomal dominant disease characterized by
numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma.
Typically, the stroma located in between the flecks is clear, and the endothelium,
the epithelium, Bowman layer, and Descemet membrane are normal. Patients are usually
asymptomatic with normal vision, yet a small number of patients report the sensation
of a minor photophobia. The flecks in CFD can appear as early as 2 years of age, or
sometimes even at birth, and appear not to progress significantly throughout life.
Histologically, the corneal flecks appear to correspond to abnormal keratocytes swollen
with membrane-limited intracytoplasmic vesicles containing complex lipids and glycosaminoglycans
(summary by Kawasaki et al., 2012).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the phosphatidylinositol-3-phosphate 5-kinase, type III gene
(PIP5K3, 609414.0001);
Prefixed ID : #121850;
Origin ID : 121850;
UMLS CUI : C1562113;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
