mitochondrial complex V (ATP synthase) deficiency nuclear type 2
MeSH: C567528ORPHA: 1194
Overview
mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with mitochondrial complex V (ATP synthase) deficiency nuclear type 2, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHypospadiasAbnormality of the kidneyWide mouthMicrocephalyRetrognathiaShort philtrumLow-set earsSeizureHypotoniaFlexion contractureGrowth delayIntrauterine growth retardationOligohydramniosCongestive heart failureHypertrophic cardiomyopathyAbnormal pulmonary valve morphologyAbnormal aortic valve morphologyHyperammonemiaCerebral cortical atrophyHepatomegalyModerate intellectual disabilityInfectious encephalitisRespiratory failure3-Methylglutaconic aciduriaAplasia/Hypoplasia of the corpus callosumModerate global developmental delayArrhythmiaCamptodactyly of finger
Classification & Codes
MeSH Code
C567528Orphanet Code
ORPHA:1194mitochondrial complex V (ATP synthase) deficiency nuclear type 2
| MeSH | C567528 |
| Orphanet | ORPHA:1194 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO