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Sveinsson chorioretinal atrophy
Summary
- Synonym
-
- HPCD
- SCRA
- atrophia areata
- helicoid peripapillary chorioretinal degeneration
- peripapillary chorioretinal degeneration, Icelandic type
- Definition
- An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3.
- Super Class
- eye disease
External Links
- Disease Ontology
- DOID:0111228
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 847 | CAT | catalase | |
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | |
| 1557 | CYP2C19 | cytochrome P450 family 2 subfamily C member 19 | |
| 2026 | ENO2 | enolase 2 | |
| 2571 | GAD1 | glutamate decarboxylase 1 | |
| 2878 | GPX3 | glutathione peroxidase 3 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
Related Glycoprotein
