Details of Disease | DrugMAP

General Information of Disease (ID: DISE932D)

Disease Name	Optic atrophy 5
Synonyms	optic atrophy 5; OPA5
Disease Hierarchy	DISOCR1N: Autosomal dominant optic atrophy DISE932D: Optic atrophy 5
Disease Identifiers	MONDO ID MONDO_0012543 MESH ID C537126 UMLS CUI C1853139 OMIM ID 610708 MedGen ID 377837

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
DNM1L	OTXK1Q1G	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. Brain. 2017 Oct 1;140(10):2586-2596. doi: 10.1093/brain/awx219.