Details of Disease | DrugMAP

General Information of Disease (ID: DISTOAI0)

Disease Name	Optic atrophy 3
Synonyms	OPA3; optic atrophy and cataract, autosomal dominant; optic atrophy, cataract, and neurologic disorder; optic atrophy 3 with cataract; optic atrophy 3, autosomal dominant; optic atrophy 3; OPA3, autosomal dominant; autosomal dominant optic atrophy type 3
Disease Hierarchy	DISOCR1N: Autosomal dominant optic atrophy DISK7IP8: Mitochondrial oxidative phosphorylation disorder DISTOAI0: Optic atrophy 3
Disease Identifiers	MONDO ID MONDO_0008133 MESH ID C537128 UMLS CUI C1833809 OMIM ID 165300 MedGen ID 371657 Orphanet ID 67036 SNOMED CT ID 719517009

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
OPA3	OT6NDC1M	Strong	Autosomal dominant	[1]
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References

1	OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004 Sep;41(9):e110. doi: 10.1136/jmg.2003.016576.