Phenotypes associated with the disease PPoma (ORPHA:97278):
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:97278)
- Neoplasm of the small intestine (HP:0100833): The presence of a neoplasm of the small intestine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:97278)
- Abnormal abdomen morphology (HP:0001438): A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97278)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97278)
- 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:97278)
- 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: Frequent (HP:0040282). (ORPHA:97278)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97278)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97278)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97278)
- Episodic abdominal pain (HP:0002574): An intermittent form of abdominal pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97278)
- Poor appetite (HP:0004396): A reduced desire to eat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97278)
- Hypoactive bowel sounds (HP:0030144): An decreased amount of bowel sounds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97278)
- Intermittent jaundice (HP:0001046): Jaundice that is sometimes present, sometimes not. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97278)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97278)
- Intrahepatic cholestasis (HP:0001406): Impairment of bile flow due to obstruction in the small bile ducts within the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97278)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97278)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97278)
- Intestinal obstruction (HP:0005214): Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97278)
- Intestinal carcinoid (HP:0006723). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97278)
- Extrahepatic cholestasis (HP:0012334): Impairment of bile flow due to obstruction in large bile ducts outside the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97278)
- Lack of bowel sounds (HP:0030145): Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97278)
- Abnormality of the thyroid gland (HP:0000820): An abnormality of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97278)
- Increased circulating gonadotropin level (HP:0000837): Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97278)
- 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: Very rare (HP:0040284). (ORPHA:97278)
- Increased circulating prolactin concentration (HP:0000870): The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97278)
- Subcutaneous lipoma (HP:0001031): The presence of subcutaneous lipoma. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97278)
- 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:97278)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97278)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97278)
- 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 rare (HP:0040284). (ORPHA:97278)
- 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:97278)
- Adrenocortical adenoma (HP:0008256): Adrenocortical adenomas are benign tumors of the adrenal cortex. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97278)