hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
ORPHA: 324525
Overview
human disease
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 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation, sourced from HPO and Orphanet clinical annotations.
Global developmental delayFailure to thriveIntrauterine growth retardationCardiomyopathyCerebral atrophyRespiratory insufficiencyIncreased circulating lactate concentrationElevated circulating creatine kinase concentrationFeeding difficulties in infancyFloppy infantDecreased activity of mitochondrial complex IChronic kidney diseaseSeizureRenal tubular acidosisIncreased CSF lactateHypsarrhythmiaHyperalaninemia3-Methylglutaconic aciduriaShort statureDecreased activity of mitochondrial complex III
Classification & Codes
Orphanet Code
ORPHA:324525hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
| Orphanet | ORPHA:324525 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO