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Fleck corneal dystrophy
Summary
- Synonym
-
- FCD
- Francois-Neetens speckled corneal dystrophy
- Definition
- A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34.
- Super Class
- stromal dystrophy
External Links
- Disease Ontology
- DOID:0060448
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2220 | FCN2 | ficolin 2 | |
| 2350 | FOLR2 | folate receptor beta | |
| 2639 | GCDH | glutaryl-CoA dehydrogenase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 54657 | UGT1A4 | UDP glucuronosyltransferase family 1 member A4 | |
| 200576 | PIKFYVE | phosphoinositide kinase, FYVE-type zinc finger containing |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000613 | Photophobia |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0007962 | Speckled corneal dystrophy |
