Phenotypes associated with the disease Gitelman syndrome (OMIM:263800):
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: PCS. (PMID:28003083)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:22009145)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: IEA. (OMIM:263800)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. (PMID:28003083)
- Paralysis (HP:0003470): Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:28003083)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:28003083)
- Hypomagnesemia (HP:0002917): The concentration of magnesium in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:263800)
- Hypokalemic alkalosis (HP:0001949). Evidence: IEA. (OMIM:263800)
- Chondrocalcinosis (HP:0000934): Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . Evidence: PCS. (PMID:28003083)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: PCS. (PMID:28003083)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. (PMID:28003083)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: PCS. (PMID:28003083)
- Salt craving (HP:0030083): Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods. Evidence: PCS. (PMID:28003083)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: PCS. (PMID:28003083)
- Hypocalciuria (HP:0003127): An abnormally decreased calcium concentration in the urine. Evidence: IEA. (OMIM:263800)
- Nocturia (HP:0000017): Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. Evidence: PCS. (PMID:28003083)
- Ventricular tachycardia (HP:0004756): A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:22009145)
- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: IEA. (OMIM:263800)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:263800)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: PCS. (PMID:28003083)
- Renal magnesium wasting (HP:0005567): High urine magnesium in the presence of hypomagnesemia. Evidence: IEA. (OMIM:263800)
- Rhabdomyolysis (HP:0003201): Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:22009145)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. (PMID:28003083)
- Tetany (HP:0001281): A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. Evidence: PCS. (PMID:28003083)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. (PMID:28003083)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. (PMID:28003083)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: IEA. (OMIM:263800)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: PCS. (PMID:28003083)
- Enuresis (HP:0000805): Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. Evidence: PCS. (PMID:28003083)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:22009145)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. (PMID:28003083)
- Prolonged QT interval (HP:0001657): Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). Evidence: PCS. (PMID:28003083)
- Renal potassium wasting (HP:0000128): High urine potassium in the presence of hypokalemia. Evidence: IEA. (OMIM:263800)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:263800)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: PCS. (PMID:28003083)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: PCS. (PMID:28003083)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. (PMID:28003083)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:22009145)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:22009145)