Details of Disease | DrugMAP

General Information of Disease (ID: DISX6N3H)

Disease Name	Mitochondrial proton-transporting ATP synthase complex deficiency
Synonyms	isolated ATP synthase deficiency; isolated mitochondrial respiratory chain complex V deficiency; mitochondrial complex V (ATP synthase) deficiency
Definition	A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).\|Consider splitting out nuclear type for OMIMPS
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISWD40R: Disease DISX6N3H: Mitochondrial proton-transporting ATP synthase complex deficiency
Disease Identifiers	MONDO ID MONDO_0014471 UMLS CUI C4757950 MedGen ID 1655626 Orphanet ID 254913 SNOMED CT ID 780820008

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	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP5F1A	OT3FZDLX	Supportive	Autosomal recessive	[2]
ATP5F1D	OTXTAG2V	Supportive	Autosomal recessive	[3]
ATP5F1E	OTMPLAIS	Supportive	Autosomal recessive	[1]
ATPAF2	OTOMEQX6	Supportive	Autosomal recessive	[4]
MT-ATP8	OTYQQR53	Supportive	Autosomal recessive	[5]
TMEM70	OTLTKYXG	moderate	CausalMutation	[6]
ATP6	OTPHOGLX	Strong	GermlineCausalMutation	[7]
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⏷ Show the Full List of 7 DOT(s)

References

1	Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21.
2	A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. Brain. 2013 May;136(Pt 5):1544-54. doi: 10.1093/brain/awt086. Epub 2013 Apr 18.
3	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.
4	Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet. 2004 Feb;41(2):120-4. doi: 10.1136/jmg.2003.012047.
5	A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. BMJ Case Rep. 2009;2009:bcr07.2008.0504. doi: 10.1136/bcr.07.2008.0504. Epub 2009 Jan 23.
6	TMEM70 deficiency: long-term outcome of 48 patients.J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18.
7	A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.Eur J Med Genet. 2017 Jun;60(6):345-351. doi: 10.1016/j.ejmg.2017.04.006. Epub 2017 Apr 13.