optic atrophy 9

Summary
Synonym
  • OPA9
Definition
An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2.
Super Class
autosomal recessive disease optic atrophy
External Links
Disease Ontology
DOID:0111442
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
50 ACO2 aconitase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
851013 ACO1 aconitate hydratase ACO1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q99798 Aconitate hydratase, mitochondrial
The Human Phenotype Ontology
Displaying all 8 entries
HPO ID HPO Term
HP:0000642 Red-green dyschromatopsia
HP:0011463 Childhood onset
HP:0000505 Visual impairment
HP:0003621 Juvenile onset
HP:0000007 Autosomal recessive inheritance
HP:0000648 Optic atrophy
HP:0007663 Reduced visual acuity
HP:0000543 Optic disc pallor
Displaying 1 entry
Gene ID Gene Symbol Description
50 ACO2 aconitase 2

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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