Phenotypes associated with the disease Carney complex, type 1 (OMIM:160980):
- Myxoid subcutaneous tumors (HP:0006769). Evidence: IEA. (OMIM:160980)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: PCS. Frequency: 1/1. (PMID:39050568)
- Dorsocervical fat pad (HP:0025383): An area of fat accumulation at the back of the neck in the form of a hump. Evidence: PCS. Frequency: 1/1. (PMID:39050568)
- Abdominal obesity (HP:0012743): Excessive fat around the stomach and abdomen. Evidence: PCS. Frequency: 1/1. (PMID:39050568)
- Macronodular adrenal hyperplasia (HP:0008231). Evidence: PCS. Frequency: 1/1. (PMID:36213268)
- Increased urinary cortisol level (HP:0012030): Abnormally increased concentration of cortisol in the urine. Evidence: PCS. Frequency: 1/1. (PMID:39050568)
- Acral overgrowth (HP:0033794): Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement. Evidence: PCS. Frequency: 6/10. (PMID:10973256)
- Schwannoma (HP:0100008): A benign nerve sheath tumor composed of Schwann cells. Evidence: TAS. (OMIM:160980)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. (OMIM:160980)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: PCS. Frequency: 1/1. (PMID:39050568)
- Abnormal skin pigmentation (HP:0001000): An abnormality of the pigmentation of the skin. Evidence: IEA. (OMIM:160980)
- Nevus (HP:0003764): A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. Evidence: IEA. (OMIM:160980)
- Multiple lentigines (HP:0001003): Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. Evidence: PCS. Frequency: 8/11. (PMID:36213268;PMID:10973256)
- Pituitary adenoma (HP:0002893): A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). Evidence: IEA. (OMIM:160980)
- Adrenocorticotropic hormone deficiency (HP:0011748): A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. Evidence: PCS. Frequency: 1/1. (PMID:39050568)
- Pigmented micronodular adrenocortical disease (HP:0001580). Evidence: PCS. Frequency: 2/2. (PMID:39050568;PMID:36213268)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: IEA. (OMIM:160980)
- Freckling (HP:0001480): The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. Evidence: TAS. (OMIM:160980)
- Red hair (HP:0002297). Evidence: IEA. (OMIM:160980)
- Striae distensae (HP:0001065): Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. Evidence: PCS. Frequency: 2/2. (PMID:39050568;PMID:36213268)
- Ventricular septal hypertrophy (HP:0005144): The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. Evidence: PCS. Frequency: 1/1. (PMID:36213268)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: PCS. Frequency: 1/1. (PMID:39050568)
- Palatine myxoma (HP:0034941): A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate. Evidence: PCS. Frequency: 1/1. (PMID:33089457)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 1/1. (PMID:36213268)
- Cutaneous myxoma (HP:0030428): A myxoma originating in the skin. Evidence: PCS. Frequency: 1/1. (PMID:36213268)
- Sleep apnea (HP:0010535): An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. Evidence: PCS. Frequency: 1/1. (PMID:36213268)
- Lip freckle (HP:0010798): Increased focal pigmentation of the vermilion of the lips. Evidence: PCS. Frequency: 1/1. (PMID:36213268)
- Cardiac myxoma (HP:0011672): A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber. Evidence: PCS. Frequency: 6/11. (PMID:39050568;PMID:10973256)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/1. (PMID:36213268)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: IEA. (OMIM:160980)
- Pituitary hypothyroidism (HP:0008245): A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. Evidence: PCS. Frequency: 1/1. (PMID:36213268)
- 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:160980)
- Lip hyperpigmentation (HP:0100816). Evidence: PCS. Frequency: 1/1. (PMID:39050568)
- Thyroid follicular hyperplasia (HP:0008225). Evidence: IEA. (OMIM:160980)
- 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: PCS. Frequency: 2/2. (PMID:39050568;PMID:36213268)
- Moon facies (HP:0500011): A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. Evidence: PCS. Frequency: 1/1. (PMID:39050568)
- Pigmentation of the sclera (HP:0007832). Evidence: TAS. (OMIM:160980)
- 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. Frequency: 20/20. (PMID:36213268;PMID:10973256)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: PCS. Frequency: 1/1. (PMID:39050568)
- 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: IEA. (OMIM:160980)