mitochondrial proton-transporting ATP synthase complex deficiency
Findings
No curated finding names mitochondrial proton-transporting ATP synthase complex deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0014471), read 2026-09-29. CC BY 4.0.
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 3-Methylglutaconic aciduriaHPOHP:0003535
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Dilated cardiomyopathyHPOHP:0001644
- Frequent (30% to 79% of cases)
- EncephalopathyHPOHP:0001298
- Frequent (30% to 79% of cases)
- HyperalaninemiaHPOHP:0003348
- Frequent (30% to 79% of cases)
- HyperammonemiaHPO
Show the remaining 28
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- Frequent (30% to 79% of cases)
- Respiratory distressHPOHP:0002098
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- BlindnessHPOHP:0000618
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
Genes
7 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATP5F1AHGNC:823
- Supportive · Orphanet · Autosomal recessive · 2021
- ATP5F1DHGNC:837
- Supportive · Orphanet · Autosomal recessive · 2021
- ATP5F1EHGNC:838
- Supportive · Orphanet · Autosomal recessive · 2021
- ATPAF2HGNC:18802
- Supportive · Orphanet · Autosomal recessive · 2021
- MT-ATP6HGNC:7414
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (8)
- combined oxidative phosphorylation deficiency 22
- mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
- mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
- mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
- mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
- mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
- mitochondrial complex V (ATP synthase) deficiency, nuclear type 7