mitochondrial complex V (ATP synthase) deficiency nuclear type 3
ORPHA: 254913
Overview
mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13
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 3, sourced from HPO and Orphanet clinical annotations.
SeizureAtaxiaHypotoniaMotor delayEncephalopathyMuscle weaknessHypertrophic cardiomyopathyDilated cardiomyopathyHyperammonemiaRespiratory distressLactic acidosisHyperalaninemia3-Methylglutaconic aciduriaPeripheral neuropathyArrhythmiaNeurodevelopmental delayRenal hypoplasiaHypogonadismMicrocephalySensorineural hearing impairmentStrabismusPtosisRod-cone dystrophyCataractBlindnessNystagmusOptic atrophyHypothyroidismLethargySpastic paraplegiaDysarthriaCerebellar atrophyDystoniaCerebral cortical atrophyHepatomegalyTetraplegiaExercise intoleranceShort statureMyoclonic seizureOphthalmoplegia
Classification & Codes
Orphanet Code
ORPHA:254913mitochondrial complex V (ATP synthase) deficiency nuclear type 3
| Orphanet | ORPHA:254913 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO