Details of Disease

General Information of Disease (ID: DISBN7PA)

Disease Name Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Synonyms dominant optic atrophy plus syndrome; optic atrophy 1 and deafness; optic atrophy plus syndrome; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Disease Hierarchy
DISE9P9R: Autosomal dominant optic atrophy plus syndrome
DISBN7PA: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Disease Identifiers
MONDO ID
MONDO_0007429
UMLS CUI
C3276549
OMIM ID
125250
MedGen ID
478179
SNOMED CT ID
715374003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
OPA1 TTTU49Q moderate Biomarker [1]
ACO2 TTMTF2P Strong Genetic Variation [2]
OPA1 TTTU49Q Strong Autosomal dominant [3]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
FMO3 DEP76YL Strong Biomarker [4]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OPA3 OT6NDC1M Limited Genetic Variation [5]
OPA1 OTJGNWPW Strong Autosomal dominant [3]
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References

1 OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.Orphanet J Rare Dis. 2019 Sep 10;14(1):214. doi: 10.1186/s13023-019-1187-1.
2 Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.Stem Cell Res. 2019 Oct;40:101566. doi: 10.1016/j.scr.2019.101566. Epub 2019 Aug 29.
3 PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.
4 What is the contribution of human FMO3 in the N-oxygenation of selected therapeutic drugs and drugs of abuse?. Toxicol Lett. 2016 Sep 6;258:55-70. doi: 10.1016/j.toxlet.2016.06.013. Epub 2016 Jun 15.
5 First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations.J Neuroophthalmol. 2013 Dec;33(4):349-53. doi: 10.1097/WNO.0b013e31829ffb9a.