- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Paraganglioma of head and neck (HP:0002864). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Neoplasm of the liver (HP:0002896): A tumor (abnormal growth of tissue) of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- 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: Occasional (HP:0040283). (ORPHA:653)
- Neoplasm of the skeletal system (HP:0010622): A tumor (abnormal growth of tissue) of the skeleton. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Prominent corneal nerve fibers (HP:0010726): Abnormal prominence of the corneal nerve fibers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Ganglioneuromatosis (HP:0025151): Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Cervical lymphadenopathy (HP:0025289): Enlarged lymph nodes in the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Neuroma (HP:0030430): A tumor made up of nerve cells and nerve fibers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Abnormal tongue morphology (HP:0030809): Any structural anomaly of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Neck pain (HP:0030833): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Multiple mucosal neuromas (HP:0031023): Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Neoplasm of the lung (HP:0100526): Tumor of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Reduced subcutaneous adipose tissue (HP:0003758): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:653)
- Proximal amyotrophy (HP:0007126): Amyotrophy (muscular atrophy) affecting the proximal musculature. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:653)
- Medullary thyroid carcinoma (HP:0002865): The presence of a medullary carcinoma of the thyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:653)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- 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:653)
- 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: Frequent (HP:0040282). (ORPHA:653)
- Hypertension associated with pheochromocytoma (HP:0002640): A type of hypertension associated with pheochromocytoma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- 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: Frequent (HP:0040282). (ORPHA:653)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- 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: Frequent (HP:0040282). (ORPHA:653)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- Parathyroid hyperplasia (HP:0008208): Hyperplasia of the parathyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- Thyroid C cell hyperplasia (HP:0011781): An abnormal growth of parafollicular (C-cells) cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- Elevated urinary catecholamine level (HP:0011976): The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- Elevated urinary vanillylmandelic acid (HP:0011978): An increased concentration of vanillylmandelic acid in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- Cervical neoplasm (HP:0032241): A tumor (abnormal growth of tissue) of the uterine cervix. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- Hypertensive crisis (HP:0100735). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:653)
- 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:653)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Disproportionate tall stature (HP:0001519): A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:653)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:653)
These phenotypes are associated with the disease Multiple endocrine neoplasia type 2 (ORPHA:653).