Details of Disease | DrugMAP

General Information of Disease (ID: DISM0JK2)

Disease Name	Auditory neuropathy-optic atrophy syndrome
Synonyms	auditory neuropathy and optic atrophy; ANOA
Disease Hierarchy	DISKAHA3: Mitochondrial disease DISCPWH9: Autosomal recessive disease DISM0JK2: Auditory neuropathy-optic atrophy syndrome
Disease Identifiers	MONDO ID MONDO_0060582 UMLS CUI C4521678 OMIM ID 617717 MedGen ID 1623572 Orphanet ID 542585 SNOMED CT ID 1222649004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FDXR	TT3W4IX	Strong	Autosomal recessive	[1]
FDXR	TT3W4IX	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FDXR	OTPDCK1F	Strong	Autosomal recessive	[1]
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References

1	FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. Am J Hum Genet. 2017 Oct 5;101(4):630-637. doi: 10.1016/j.ajhg.2017.09.007. Epub 2017 Sep 28.