Details of Disease | DrugMAP

General Information of Disease (ID: DISPZLW9)

Disease Name	Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
Synonyms	Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type; mitochondrial complex v (atp synthase) deficiency; MC5DN5; MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
Disease Hierarchy	DISCJSA1: Mitochondrial complex deficiency DISPZLW9: Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
Disease Identifiers	MONDO ID MONDO_0020858 UMLS CUI C4748269 OMIM ID 618120 MedGen ID 1648429

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
ATP5F1D	OTXTAG2V	Limited	Autosomal recessive	[1]
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References

1	Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.