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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.
Features include always present findings: Lactic acidosis, Decreased activity of mitochondrial ATP synthase complex, and Global developmental delay; and very common findings: Thickened heart muscle (hypertrophic cardiomyopathy) and 3-Methylglutaconic aciduria. 39 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 8 | Encephalopathy, Seizure, Polyneuropathy |
Heart and blood vessels | 3 | Arrhythmia, Thickened heart muscle (hypertrophic cardiomyopathy), Hypertension |
Growth and development | 3 | Failure to thrive, Intrauterine growth retardation, Growth delay |
Muscles | 2 | Low muscle tone (hypotonia), Generalized hypotonia |
Lab test results | 2 | Decreased activity of mitochondrial ATP synthase complex, Increased circulating lactate concentration |
Head and neck | 1 | Flat face |
Eyes | 1 | Cataract |
Digestive system | 1 | Gastroparesis |
Lungs and breathing | 1 | Difficulty breathing (respiratory insufficiency) |
Age of onset: newborn period.
TMEM70 function has not been fully characterized.
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 is associated with mutations in the TMEM70 gene on chromosome 8.
Genetic testing for TMEM70 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 2 very common features, 3 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for mitochondrial complex V (ATP synthase) deficiency, nuclear type 2.
3 publications have been identified in PubMed for mitochondrial complex V (ATP synthase) deficiency, nuclear type 2. Research spans Basic Science / Preclinical (100%).
Fielder SM (2025). [PMID: 40672495](https://pubmed.ncbi.nlm.nih.gov/40672495/). *medRxiv*. [Basic Science / Preclinical]
Xiao TH (2025). [PMID: 40739109](https://pubmed.ncbi.nlm.nih.gov/40739109/). *Sci Rep*. [Basic Science / Preclinical]
Mulet I (2024). [PMID: 39557858](https://pubmed.ncbi.nlm.nih.gov/39557858/). *Nat Commun*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center