Details of Disease

General Information of Disease (ID: DISNV6ZG)

Disease Name Optic atrophy 9
Synonyms OPA9; ACO2 autosomal recessive isolated optic atrophy; autosomal recessive isolated optic atrophy caused by mutation in ACO2; optic atrophy 9
Disease Hierarchy
DISCV4E4: Hereditary optic atrophy
DISNV6ZG: Optic atrophy 9
Disease Identifiers
MONDO ID
MONDO_0014571
UMLS CUI
C4225384
OMIM ID
616289
MedGen ID
898858

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACO2 TTMTF2P Strong Autosomal recessive [1]
ACO2 TTMTF2P Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACO2 OTF2UVNV Strong Autosomal recessive [1]
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References

1 Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017 Aug;32(9):840-845. doi: 10.1177/0883073817711527. Epub 2017 May 25.
2 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. J Med Genet. 2014 Dec;51(12):834-8. doi: 10.1136/jmedgenet-2014-102532. Epub 2014 Oct 28.