mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Findings
No curated finding names mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the TMEM70 gene. It is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
Definition from the Mondo Disease Ontology (MONDO:0013546), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal death · Death in childhood
HPO, annotations 2026-09-02
Features
32 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.
- Decreased activity of mitochondrial ATP synthase complexHPOHP:0011925
- 25 of 25 reported patients
- Lactic acidosisHPOHP:0003128
- 25 of 25 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 22 of 25 reported patients
- Frequent (30% to 79% of cases)
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 20 of 25 reported patients
- Very frequent (80% to 99% of cases)
- HyperammonemiaHPOHP:0001987
- Very frequent (80% to 99% of cases)
Genes
1 gene
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.
- TMEM70HGNC:26050
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- Also called
- MC5DN2mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiencymitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiencymitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency