Details of Disease | DrugMAP

General Information of Disease (ID: DIS3BTBU)

Disease Name	Mitochondrial complex V (ATP synthase) deficiency nuclear type 3
Synonyms	mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3; mitochondrial complex V (ATP synthase) deficiency, nuclear type 3; mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type; ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency; MC5DN3; mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E
Definition	Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.
Disease Hierarchy	DISX6N3H: Mitochondrial proton-transporting ATP synthase complex deficiency DISCJSA1: Mitochondrial complex deficiency DIS3BTBU: Mitochondrial complex V (ATP synthase) deficiency nuclear type 3
Disease Identifiers	MONDO ID MONDO_0013547 UMLS CUI C3279708 OMIM ID 614053 MedGen ID 481338

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ATP5F1E	DTCX7UI	Limited	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
ATP5F1E	OTMPLAIS	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.