Phenotypes associated with the disease Acute adrenal insufficiency (ORPHA:95409):
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:95409)
- Primary adrenal insufficiency (HP:0008207): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:95409)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- 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: Very frequent (HP:0040281). (ORPHA:95409)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- 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: Very frequent (HP:0040281). (ORPHA:95409)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- Increased circulating ACTH level (HP:0003154): An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- Hypovolemia (HP:0011106): An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95409)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Renal salt wasting (HP:0000127): A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Orthostatic hypotension (HP:0001278): A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Normocytic anemia (HP:0001897): A kind of anemia in which the volume of the red blood cells is normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Decreased circulating aldosterone concentration (HP:0004319): Abnormally reduced levels of aldosterone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Hyperkalemic metabolic acidosis (HP:0005976). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Androgen insufficiency (HP:0008226): Insufficient amount of androgenic activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Recurrent acute respiratory tract infection (HP:0011948): A history of repeated acute infections of the upper or lower respiratory tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- Decreased urinary potassium (HP:0012364): A decreased concentration of potassium(1+) in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95409)
- 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:95409)
- Adrenal hypoplasia (HP:0000835): Developmental hypoplasia of the adrenal glands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95409)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95409)
- Vitiligo (HP:0001045). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95409)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95409)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95409)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95409)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95409)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95409)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95409)
- Decreased female libido (HP:0030018): Diminished sexual desire in female. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95409)
- 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:95409)