Phenotypes associated with the disease Late-onset isolated ACTH deficiency (ORPHA:199299):
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:199299)
- Adrenocorticotropin deficient adrenal insufficiency (HP:0011735): Adrenal insufficiency secondary to a defect in ACTH production. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:199299)
- Adrenocorticotropic hormone deficiency (HP:0011748): A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:199299)
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199299)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199299)
- 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:199299)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199299)
- 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:199299)
- 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:199299)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199299)
- 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:199299)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199299)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199299)
- Decreased circulating ACTH concentration (HP:0002920): The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199299)
- 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:199299)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199299)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199299)
- 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:199299)
- Macrocytic anemia (HP:0001972): A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199299)
- 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:199299)
- 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:199299)
- 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: Frequent (HP:0040282). (ORPHA:199299)
- Low-grade fever (HP:0011134): Mild fever that does not exceed 38.5 degrees centigrade. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199299)
- 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: Frequent (HP:0040282). (ORPHA:199299)
- 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: Frequent (HP:0040282). (ORPHA:199299)
- Hypoparathyroidism (HP:0000829): A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199299)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199299)
- Vitiligo (HP:0001045). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199299)
- 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:199299)
- 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:199299)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199299)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199299)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199299)
- 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:199299)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199299)
- 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:199299)
- Generalized bone demineralization (HP:0006462): A generalized decrease in bone mineral density. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199299)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199299)
- Pituitary adenoma (HP:0002893): A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199299)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199299)
Not associated with this disease:
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: TAS. (ORPHA:199299)