Details of Disease

General Information of Disease (ID: DISCV4E4)

Disease Name Hereditary optic atrophy
Synonyms Atrophies, hereditary optic; hereditary optic Atrophies; optic atrophy, hereditary; atrophy, hereditary optic; hereditary optic atrophy
Definition A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.
Disease Hierarchy
DISPN7D2: Inherited neurodegenerative disorder
DISY2L10: Primary optic atrophy
:
DISCV4E4: Hereditary optic atrophy
Disease Identifiers
MONDO ID
MONDO_0043878
MESH ID
D015418
UMLS CUI
C0029125
MedGen ID
45207
SNOMED CT ID
26360005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
OPA1 TTTU49Q Limited Genetic Variation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OPA3 OT6NDC1M Limited Genetic Variation [2]
ND4 OT4RQVAA Strong Biomarker [3]
ND6 OTG47B7B Strong Biomarker [4]
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References

1 Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.Jpn J Ophthalmol. 2017 Sep;61(5):395-401. doi: 10.1007/s10384-017-0522-0. Epub 2017 Jul 1.
2 Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.Invest Ophthalmol Vis Sci. 2014 Sep 9;55(10):6987-95. doi: 10.1167/iovs.14-14953.
3 Mitochondrial genetic control of assembly and function of complex I in mammalian cells.J Bioenerg Biomembr. 2001 Jun;33(3):251-7. doi: 10.1023/a:1010791204961.
4 Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy.Ann Neurol. 1999 Mar;45(3):320-8.