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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 |
|---|---|---|---|
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 6120 | RPE | ribulose-5-phosphate-3-epimerase | |
| 10457 | GPNMB | glycoprotein nmb |
Related Glycoprotein
