Phenotypes associated with the disease multiple endocrine neoplasia type 1 (OMIM:131100):
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: IEA. (OMIM:131100)
- 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: PCS. (PMID:31263451)
- Pituitary adenoma (HP:0002893): A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). Evidence: PCS. Frequency: 164/354. (PMID:11836268;PMID:15292304)
- 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: IEA. (OMIM:131100)
- 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: IEA. (OMIM:131100)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. (PMID:11836268)
- Subcutaneous lipoma (HP:0001031): The presence of subcutaneous lipoma. Evidence: IEA. (OMIM:131100)
- 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: PCS. Frequency: 5/30. (PMID:15292304)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:131100)
- Glucagonoma (HP:0030404): An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. Evidence: TAS. (PMID:31263451)
- Esophagitis (HP:0100633): Inflammation of the esophagus. Evidence: TAS. (OMIM:131100)
- Pancreatic islet cell adenoma (HP:0008261): The presence of an adenoma of the pancreas with origin in a pancreatic B cell. Evidence: IEA. (OMIM:131100)
- Cafe-au-lait spot (HP:0000957): Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. Evidence: TAS. (OMIM:131100)
- Insulinoma (HP:0012197): A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. Evidence: PCS. Frequency: 3/30. (PMID:15292304)
- Adenoma sebaceum (HP:0009720): The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. Evidence: IEA. (OMIM:131100)
- Adrenocortical adenoma (HP:0008256): Adrenocortical adenomas are benign tumors of the adrenal cortex. Evidence: PCS. Frequency: 58/354. (PMID:11836268;PMID:15292304)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: IEA. (OMIM:131100)
- Thyroid adenoma (HP:0000854): The presence of a adenoma of the thyroid gland. Evidence: TAS. (OMIM:131100)
- 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: IEA. (OMIM:131100)
- 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: IEA. (OMIM:131100)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:131100)
- Confetti-like hypopigmented macules (HP:0007449). Evidence: IEA. (OMIM:131100)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: IEA. (OMIM:131100)
- 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: PCS. Frequency: 22/40. (PMID:31263451;OMIM:131100)