Phenotypes associated with the disease multiple endocrine neoplasia type 2A (OMIM:171400):
- Elevated urinary norepinephrine level (HP:0003345): The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 28/48. (PMID:18795243)
- Elevated urinary dopamine level (HP:0011979): The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 25/48. (PMID:18795243)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 1/2. (PMID:24331334)
- Thyroid nodule (HP:0025388): A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland. Evidence: PCS. Frequency: 2/2. (PMID:24331334)
- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: IEA. (OMIM:171400)
- Cutaneous lichen amyloidosis (HP:0032346): Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs. Evidence: TAS. (OMIM:171400)
- Elevated urinary vanillylmandelic acid (HP:0011978): An increased concentration of vanillylmandelic acid in the urine. Evidence: IEA. Frequency: 28/48. (PMID:18795243)
- Thyroid C cell hyperplasia (HP:0011781): An abnormal growth of parafollicular (C-cells) cells. Evidence: PCS. (PMID:30085596)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/2. (PMID:24331334)
- Hypertensive crisis (HP:0100735). Evidence: PCS. Frequency: 1/2. (PMID:24331334)
- Elevated urinary epinephrine level (HP:0003639): The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 36/48. (PMID:18795243)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 13/54. (PMID:18795243)
- Hyperparathyroidism (HP:0000843): Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Evidence: PCS. Frequency: 10/12. (PMID:24331334;PMID:24152999)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. Frequency: 3/54. (PMID:18795243)
- 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: PCS. Frequency: 2/2. (PMID:24331334)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 5/54. (PMID:18795243)
- 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:171400)
- Medullary thyroid carcinoma (HP:0002865): The presence of a medullary carcinoma of the thyroid gland. Evidence: PCS. Frequency: 17/30. (PMID:24331334;PMID:29465928;PMID:22274720)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: PCS. Frequency: 10/54. (PMID:18795243)
- 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: PCS. (PMID:24331334)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: IEA. (OMIM:171400)
- 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: PCS. Frequency: 67/189. (PMID:24331334;PMID:22274720;PMID:18795243)