tubular renal disease-cardiomyopathy syndrome
MONDO:0019130Mondo
Findings
No curated finding names tubular renal disease-cardiomyopathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:0019130), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Dilated cardiomyopathyHPO · MondoHP:0001644
- Very frequent (80% to 99% of cases)
- HypercalciuriaHPOHP:0002150
- Very frequent (80% to 99% of cases)
- HypermagnesiuriaHPOHP:0012608
- Very frequent (80% to 99% of cases)
- HypocalcemiaHPOHP:0002901
- Very frequent (80% to 99% of cases)
- Hypokalemic metabolic alkalosisHPOHP:0001960
- Very frequent (80% to 99% of cases)
- HypomagnesemiaHPOHP:0002917
- Very frequent (80% to 99% of cases)
- Abnormal renal tubular resorptionHPOHP:0011038
- Frequent (30% to 79% of cases)
- ArthralgiaHPOHP:0002829
- Frequent (30% to 79% of cases)
- Congestive heart failureHPOHP:0001635
- Frequent (30% to 79% of cases)
- Hepatic calcificationHPOHP:0006559
- Frequent (30% to 79% of cases)
- Hyperkinetic movementsHPOHP:0002487
- Frequent (30% to 79% of cases)
- HyperprostaglandinuriaHPOHP:0003527
- Frequent (30% to 79% of cases)
Show the remaining 8
- Hypocalcemic tetanyHPOHP:0003472
- Frequent (30% to 79% of cases)
- Increased circulating aldosterone concentrationHPOHP:0000859
- Frequent (30% to 79% of cases)
- Myoclonic spasmsHPOHP:0003739
- Frequent (30% to 79% of cases)
- NephrocalcinosisHPOHP:0000121
- Frequent (30% to 79% of cases)
- Pericardial effusionHPOHP:0001698
- Frequent (30% to 79% of cases)
- Pulmonary edemaHPOHP:0100598
- Frequent (30% to 79% of cases)
Where it sits
- A kind of