- Macronodular adrenal hyperplasia (HP:0008231). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:189427)
- 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:189427)
- Moon facies (HP:0500011): A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:189427)
- Emotional lability (HP:0000712): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Plethora (HP:0001050). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Striae distensae (HP:0001065): Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- 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: Frequent (HP:0040282). (ORPHA:189427)
- Hyperlipidemia (HP:0003077): An elevated lipid concentration in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Increased circulating cortisol level (HP:0003118): Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Proximal amyotrophy (HP:0007126): Amyotrophy (muscular atrophy) affecting the proximal musculature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Increased urinary cortisol level (HP:0012030): Abnormally increased concentration of cortisol in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Abdominal obesity (HP:0012743): Excessive fat around the stomach and abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Dorsocervical fat pad (HP:0025383): An area of fat accumulation at the back of the neck in the form of a hump. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Abnormal response to corticotropin releasing hormone stimulation test (HP:0031077): An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Abnormal libido (HP:0031845): Any deviation from the normal sexual drive or desire for sexual activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189427)
- Psychotic episodes (HP:0000725): Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189427)
- Acne (HP:0001061): A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189427)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189427)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189427)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189427)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189427)
- Increased body weight (HP:0004324): Abnormally increased body weight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189427)
- Mania (HP:0100754): A state of abnormally elevated or irritable mood, arousal, and/or energy levels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189427)
- Increased circulating aldosterone concentration (HP:0000859): Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:189427)
- Meningioma (HP:0002858): The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:189427)
- 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:189427)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:189427)
- Primary hyperparathyroidism (HP:0008200): A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:189427)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:189427)
- Neuroendocrine neoplasm (HP:0100634): A tumor that originates from a neuroendocrine cell. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:189427)
These phenotypes are associated with the disease Cushing syndrome due to bilateral macronodular adrenocortical disease (ORPHA:189427).