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
Displaying entries 1 - 10 of 14 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024