Details of Disease | DrugMAP

General Information of Disease (ID: DISIGVK9)

Disease Name	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DISKAHA3: Mitochondrial disease DISCPWH9: Autosomal recessive disease DISIGVK9: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Disease Identifiers	MONDO ID MONDO_0034092 UMLS CUI C5681321 MedGen ID 1807322 Orphanet ID 543470 SNOMED CT ID 1222655009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FDXR	TT3W4IX	Supportive	Autosomal recessive	[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	Supportive	Autosomal recessive	[1]
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References

1	Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Hum Mol Genet. 2017 Dec 15;26(24):4937-4950. doi: 10.1093/hmg/ddx377.