Details of Disease | DrugMAP

General Information of Disease (ID: DIS5KBOT)

Disease Name	Autosomal recessive optic atrophy, OPA7 type
Synonyms	optic atrophy 7 with or without auditory neuropathy; OPA7; optic atrophy 7
Disease Hierarchy	DISCV4E4: Hereditary optic atrophy DISK7IP8: Mitochondrial oxidative phosphorylation disorder DIS5KBOT: Autosomal recessive optic atrophy, OPA7 type
Disease Identifiers	MONDO ID MONDO_0013069 MESH ID C567833 UMLS CUI C2751812 OMIM ID 612989 MedGen ID 414112 Orphanet ID 227976

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
TMEM126A	OTLP76WE	Strong	Autosomal recessive	[1]
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References

1	TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am J Hum Genet. 2009 Apr;84(4):493-8. doi: 10.1016/j.ajhg.2009.03.003. Epub 2009 Mar 26.