optic atrophy 1

Summary
Synonym
  • OPA1
Definition
An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
Super Class
autosomal dominant disease optic atrophy
External Links
Disease Ontology
DOID:0111441
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
50 ACO2 aconitase 2
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
1608 DGKG diacylglycerol kinase gamma
5313 PKLR pyruvate kinase L/R
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6523 SLC5A1 solute carrier family 5 member 1
11181 TREH trehalase
54732 TMED9 transmembrane p24 trafficking protein 9

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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