Phenotypes associated with the disease Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224):
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73224)
- Hypokalemic metabolic alkalosis (HP:0001960). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73224)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73224)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73224)
- Hypomagnesemia (HP:0002917): The concentration of magnesium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73224)
- Hypermagnesiuria (HP:0012608): An increased concentration of magnesium the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73224)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Increased circulating aldosterone concentration (HP:0000859): Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Sudden cardiac death (HP:0001645): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Hyperkinetic movements (HP:0002487): Motor hyperactivity with excessive movement of muscles of the body as a whole. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Hypocalcemic tetany (HP:0003472): Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Hyperprostaglandinuria (HP:0003527): An increased concentration of prostaglandin in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Myoclonic spasms (HP:0003739). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Hepatic calcification (HP:0006559): The presence of abnormal calcium deposition in the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Abnormal renal tubular resorption (HP:0011038): An abnormality of renal absorption. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Pulmonary edema (HP:0100598): Fluid accumulation in the lungs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73224)
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73224)