- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:652)
- 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 frequent (HP:0040281). (ORPHA:652)
- Parathyroid hyperplasia (HP:0008208): Hyperplasia of the parathyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:652)
- Angiofibromas (HP:0010615): Angiofibroma consist of many often dilated vessels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:652)
- Impairment of activities of daily living (HP:0031058): Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:652)
- Impotence (HP:0000802): Inability to develop or maintain an erection of the penis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Adrenocortical abnormality (HP:0000849). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Multiple lipomas (HP:0001012): The presence of multiple lipomas (a type of benign tissue made of fatty tissue). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- 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: Frequent (HP:0040282). (ORPHA:652)
- Zollinger-Ellison syndrome (HP:0002044): A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Pituitary adenoma (HP:0002893): A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Peptic ulcer (HP:0004398): The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Large cafe-au-lait macules with irregular margins (HP:0005605): Large hypermelanotic macules with jagged borders. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Pituitary prolactin cell adenoma (HP:0006767): A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Decreased male libido (HP:0040306): Reduced desire for sexual activity on the part of a male. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Galactorrhea (HP:0100829): Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- Hypergastrinemia (HP:0500167): An elevated amount of gastrin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:652)
- 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: Occasional (HP:0040283). (ORPHA:652)
- Gingival fibromatosis (HP:0000169): The presence of fibrosis of the gingiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- 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:652)
- Short attention span (HP:0000736): Reduced attention span characterized by distractibility and impulsivity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- 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: Occasional (HP:0040283). (ORPHA:652)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Elevated circulating growth hormone concentration (HP:0000845): Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- 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: Occasional (HP:0040283). (ORPHA:652)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Cranial nerve compression (HP:0001293). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Primary hypercortisolism (HP:0001579): Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Hematemesis (HP:0002248): The vomiting of blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Melena (HP:0002249): The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- 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:652)
- Duodenal ulcer (HP:0002588): An erosion of the mucous membrane in a portion of the duodenum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- 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:652)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Meningioma (HP:0002858): The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- 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: Occasional (HP:0040283). (ORPHA:652)
- Intestinal carcinoid (HP:0006723). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Adrenocortical carcinoma (HP:0006744): A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Confetti-like hypopigmented macules (HP:0007449). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Proportionate tall stature (HP:0011407). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Pituitary growth hormone cell adenoma (HP:0011760): A type of pituitary adenoma that produces growth hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Insulinoma (HP:0012197): A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Shortened QT interval (HP:0012232): Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Pancreatic endocrine tumor (HP:0030405): A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Decreased vigilance (HP:0032044): A decrease in the ability to maintain sustained attention is characterized by reduced alertness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Abnormal circulating aldosterone concentration (HP:0040085). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Carcinoid tumor (HP:0100570): A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:652)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Pheochromocytoma (HP:0002666): Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Ependymoma (HP:0002888): The presence of an ependymoma of the central nervous system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Increased serum serotonin (HP:0003144): A increased concentration of serotonin in the blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Elevated circulating calcitonin concentration (HP:0003528): Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Parathyroid carcinoma (HP:0006780): A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Pituitary corticotropic cell adenoma (HP:0008291): A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Atypical absence status epilepticus (HP:0011151): Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Pituitary gonadotropic cell adenoma (HP:0011759): A type of pituitary adenoma that produces gonadotropins. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Pituitary null cell adenoma (HP:0011761): A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Pituitary thyrotropic cell adenoma (HP:0011762): A type of pituitary adenoma that produces thyroid stimulating hormone (TSH). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Glucagonoma (HP:0030404): An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Pulmonary carcinoid tumor (HP:0030445): A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
- Thymoma (HP:0100522): A tumor originating from the epithelial cells of the thymus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:652)
These phenotypes are associated with the disease Multiple endocrine neoplasia type 1 (ORPHA:652).