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MIRAGE
retinal arterial tortuosity

Summary
Synonym
  • RATOR
  • retinal arteriolar tortuosity
  • retinal hemorrhage with vascular tortuosity
  • tortuosity of retinal arteries
Definition
An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34.
Super Class
artery disease autosomal dominant disease
Disease Ontology
DOID:0111547
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1282 COL4A1 collagen type IV alpha 1 chain
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P02462 Collagen alpha-1(IV) chain
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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: April 7, 2025