Phenotypes associated with the disease Addison disease (ORPHA:85138):
- 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:85138)
- 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: Occasional (HP:0040283). (ORPHA:85138)
- Thiamine-responsive megaloblastic anemia (HP:0004860): A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:85138)
- Primary testicular failure (HP:0008720). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:85138)
- Thymoma (HP:0100522): A tumor originating from the epithelial cells of the thymus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:85138)
- 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:85138)
- 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:85138)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85138)
- 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:85138)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85138)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85138)
- 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:85138)
- 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:85138)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85138)
- 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:85138)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- 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:85138)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- 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:85138)
- 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:85138)
- 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:85138)
- Decreased circulating aldosterone concentration (HP:0004319): Abnormally reduced levels of aldosterone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- Hyperkalemic metabolic acidosis (HP:0005976). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- Androgen insufficiency (HP:0008226): Insufficient amount of androgenic activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- Decreased urinary potassium (HP:0012364): A decreased concentration of potassium(1+) in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:85138)
- 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:85138)
- 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:85138)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85138)
- 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:85138)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85138)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- Malaise (HP:0033834): A feeling of general discomfort, weakness, or lack of health. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- Anti-side-chain cleavage enzyme antibody positivity (HP:0034055): The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- Anti-steroid 17alpha-hydroxylase antibody positivity (HP:0034061): The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- Anti-21-hydroxylase antibody positivity (HP:0034071): The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85138)
- 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:85138)
- Hypoparathyroidism (HP:0000829): A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Adrenal hypoplasia (HP:0000835): Developmental hypoplasia of the adrenal glands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Vitiligo (HP:0001045). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- 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: Occasional (HP:0040283). (ORPHA:85138)
- 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: Occasional (HP:0040283). (ORPHA:85138)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Celiac disease (HP:0002608): Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- 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:85138)
- Generalized bone demineralization (HP:0006462): A generalized decrease in bone mineral density. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Adrenal calcification (HP:0010512): Calcification within the adrenal glands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)
- Decreased female libido (HP:0030018): Diminished sexual desire in female. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85138)