Phenotypes associated with the disease Cushing disease (ORPHA:96253):
- 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:96253)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- 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:96253)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Plethora (HP:0001050). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- 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: Frequent (HP:0040282). (ORPHA:96253)
- 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:96253)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Truncal obesity (HP:0001956): Obesity located preferentially in the trunk of the body as opposed to the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- 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: Frequent (HP:0040282). (ORPHA:96253)
- Increased body weight (HP:0004324): Abnormally increased body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Proximal amyotrophy (HP:0007126): Amyotrophy (muscular atrophy) affecting the proximal musculature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Adrenal hyperplasia (HP:0008221): Enlargement of the adrenal gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Intra-oral hyperpigmentation (HP:0010284): Increased pigmentation, either focal or generalized, of the mucosa of the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Abdominal obesity (HP:0012743): Excessive fat around the stomach and abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Capillary fragility (HP:0025017): Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- 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:96253)
- 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: Very frequent (HP:0040281). (ORPHA:96253)
- Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96253)
- Pituitary corticotropic cell adenoma (HP:0008291): A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96253)
- Increased urinary cortisol level (HP:0012030): Abnormally increased concentration of cortisol in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96253)
- Amenorrhea (HP:0000141): Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- 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:96253)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Decreased total eosinophil count (HP:0031891): Abnormal decrease of absolute number of eosinophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Impaired glucose tolerance (HP:0040270): An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- Moon facies (HP:0500011): A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)
- 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: Occasional (HP:0040283). (ORPHA:96253)
- 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:96253)
- Secondary amenorrhea (HP:0000869). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Purpura (HP:0000979): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- 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:96253)
- 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:96253)
- Abnormality of the respiratory system (HP:0002086): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- 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: Occasional (HP:0040283). (ORPHA:96253)
- 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:96253)
- Large sella turcica (HP:0002690): An abnormal enlargement of the sella turcica. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Vertebral compression fracture (HP:0002953). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Recurrent cutaneous fungal infections (HP:0011370): Increased susceptibility to cutaneous fungal infections as manifested by recurrent episodes of cutaneous fungal infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Flushing (HP:0031284): Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Ecchymosis (HP:0031364): A purpuric lesion that is larger than 1 cm in diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Suicidal ideation (HP:0031589): Frequent thoughts about or preoccupation with killing oneself. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Abnormal libido (HP:0031845): Any deviation from the normal sexual drive or desire for sexual activity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Livedo reticularis (HP:0033505): Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96253)
- Psychosis (HP:0000709): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96253)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96253)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96253)
- Optic nerve compression (HP:0007807). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96253)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96253)
- Avascular necrosis (HP:0010885): A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96253)
- Paranoia (HP:0011999): The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96253)
- Panic attack (HP:0025269): A sudden episode of intense fear in a situation where there is no danger or apparent cause. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96253)
- Fatiguable weakness of proximal limb muscles (HP:0030200): A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96253)