Phenotypes associated with the disease multiple endocrine neoplasia type 4 (OMIM:610755):
- Carcinoma (HP:0030731): A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). Evidence: IEA. (OMIM:610755)
- Pituitary adenoma (HP:0002893): A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). Evidence: IEA. (OMIM:610755)
- 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: PCS. Frequency: 1/1. (PMID:24819502)
- 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. (OMIM:610755)
- Renal angiomyolipoma (HP:0006772): A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. Evidence: TAS. (OMIM:610755)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 1/1. (PMID:24819502)
- Hyperparathyroidism (HP:0000843): Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Evidence: PCS. Frequency: 1/1. (PMID:24819502)
- 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:610755)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: PCS. Frequency: 1/1. (PMID:24819502)
- Pancreatic endocrine tumor (HP:0030405): A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. Evidence: PCS. Frequency: 1/1. (PMID:24819502)
- 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:610755)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: TAS. Frequency: 1/1. (PMID:24819502)