- Glucose intolerance (HP:0001952): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Tinnitus (HP:0000360): Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Syncope (HP:0001279): A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Ventricular fibrillation (HP:0001663): Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Iron deficiency anemia (HP:0001891). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Renal tubular acidosis (HP:0001947): Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Diabetic ketoacidosis (HP:0001953): A type of diabetic metabolic abnormality with an accumulation of ketone bodies. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Renal Fanconi syndrome (HP:0001994): An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Gout (HP:0001997): Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:358)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:358)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:358)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:358)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:358)
- Low-to-normal blood pressure (HP:0002632). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:358)
- Hypomagnesemia (HP:0002917): The concentration of magnesium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:358)
- Nocturia (HP:0000017): Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Renal potassium wasting (HP:0000128): High urine potassium in the presence of hypokalemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Hypermagnesemia (HP:0002918): The concentration of magnesium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Salt craving (HP:0030083): Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Metabolic alkalosis (HP:0200114): Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:358)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Focal segmental glomerulosclerosis (HP:0000097): Segmental accumulation of scar tissue in individual (but not all) glomeruli. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Varicose veins (HP:0002619): Enlarged and tortuous veins. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Rhabdomyolysis (HP:0003201): Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Abnormal T-wave (HP:0005135): An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Mitochondrial encephalopathy (HP:0006789). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Focal-onset seizure (HP:0007359): A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Maternal diabetes (HP:0009800): Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Primary hyperaldosteronism (HP:0011736): A form of hyperaldosteronism caused by a defect within the adrenal gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Prolonged PR interval (HP:0012248): Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- ST segment depression (HP:0012250): An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Decreased urinary potassium (HP:0012364): A decreased concentration of potassium(1+) in the urine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Prominent U wave (HP:0025072): Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Scleroderma (HP:0100324): A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Graves disease (HP:0100647): An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
- Insomnia (HP:0100785): Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adequate opportunities and conditions for sleep. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:358)
These phenotypes are associated with the disease Gitelman syndrome (ORPHA:358).