Details of Disease | DrugMAP

General Information of Disease (ID: DISXL1WB)

Disease Name	OPA1-related optic atrophy with or without extraocular features
Definition	Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.\|Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found the molecular mechanism (loss of function variants in OPA1) to be consistent among apparently unrelated patients, while related patients harboring either biallelic or monoallelic OPA1 variants were affected with optic atrophy. The phenotypic variability between them appeared to represent a spectrum of disease rather than separate disease entities. Therefore, affected cases harboring monoallelic or biallelic OPA1 variants have been lumped into a single disease entity, referred to as OPA1-related optic atrophy with or without extraocular features.
Disease Hierarchy	DISP5E0H: Inborn mitochondrial metabolism disorder DIS4DFBG: Hereditary optic neuropathy DISXL1WB: OPA1-related optic atrophy with or without extraocular features

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	Definitive	Semidominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OPA1	OTJGNWPW	Definitive	Semidominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.