Details of Disease | DrugMAP

General Information of Disease (ID: DISUNRW2)

Disease Name	Leber hereditary optic neuropathy, autosomal recessive
Synonyms	LHONAR; Leber hereditary optic neuropathy, autosomal recessive
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISUNRW2: Leber hereditary optic neuropathy, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0030309 UMLS CUI C5543589 OMIM ID 619382 MedGen ID 1786310

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNAJC30	OTRZQJEG	Strong	Autosomal recessive	[1]
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References

1	Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267.