tubular renal disease-cardiomyopathy syndrome
ORPHA: 73224
Overview
Tubular renal disease-cardiomyopathy syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy
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 tubular renal disease-cardiomyopathy syndrome, sourced from HPO and Orphanet clinical annotations.
Dilated cardiomyopathyHypokalemic metabolic alkalosisHypercalciuriaHypocalcemiaHypomagnesemiaHypermagnesiuriaNephrocalcinosisIncreased circulating aldosterone concentrationCongestive heart failureSudden cardiac deathPericardial effusionHyperkinetic movementsArthralgiaHypocalcemic tetanyHyperprostaglandinuriaMyoclonic spasmsHepatic calcificationAbnormal renal tubular resorptionPulmonary edemaBilateral tonic-clonic seizure
Classification & Codes
Orphanet Code
ORPHA:73224tubular renal disease-cardiomyopathy syndrome
| Orphanet | ORPHA:73224 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO