Details of Disease | DrugMAP

General Information of Disease (ID: DIS5V4FM)

Disease Name	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Synonyms	optic atrophy 10 with or without ataxia, mental retardation, and seizures; OPA10; optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Disease Hierarchy	DISCV4E4: Hereditary optic atrophy DIS5V4FM: Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Disease Identifiers	MONDO ID MONDO_0020737 UMLS CUI C4225227 OMIM ID 616732 MedGen ID 905727

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
RTN4IP1	OTHUZANE	Definitive	Autosomal recessive	[1]
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References

1	Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22.