Phenotypes associated with the disease Carney complex (ORPHA:1359):
- Pigmented micronodular adrenocortical disease (HP:0001580). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1359)
- Ovarian cyst (HP:0000138): The presence of one or more cysts of the ovary. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Euthyroid multinodular goiter (HP:0000866). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Multiple lentigines (HP:0001003): Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Atypical nevi in non-sun exposed areas (HP:0001074). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Spotty hyperpigmentation (HP:0005585). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Multiple cafe-au-lait spots (HP:0007565): The presence of six or more cafe-au-lait spots. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Gonadal neoplasm (HP:0010785): A tumor (abnormal growth of tissue) of a gonad. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Testicular neoplasm (HP:0010788): The presence of a neoplasm of the testis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Pituitary growth hormone cell adenoma (HP:0011760): A type of pituitary adenoma that produces growth hormone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Increased circulating insulin-like growth factor 1 concentration (HP:0030269): The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Cutaneous myxoma (HP:0030428): A myxoma originating in the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Sertoli cell neoplasm (HP:0100619): The presence of a neoplasm of the testis with origin in a Sertoli cell. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Blue nevus (HP:0100814): A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1359)
- Abnormal morphology of female internal genitalia (HP:0000008): An abnormality of the female internal genitalia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Macroorchidism (HP:0000053): The presence of abnormally large testes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Tongue nodules (HP:0000199). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Growth abnormality (HP:0001507). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Thromboembolism (HP:0001907): The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Increased body weight (HP:0004324): Abnormally increased body weight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Neoplasm of the stomach (HP:0006753): A tumor (abnormal growth of tissue) of the stomach. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Fibroadenoma of the breast (HP:0010619): A benign biphasic tumor of the breast with epithelial and stromal components. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Nodular changes affecting the eyelids (HP:0010732): Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Decreased fertility in males (HP:0012041). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Abnormal sperm motility (HP:0012206): An anomaly of the mobility of ejaculated sperm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Abdominal obesity (HP:0012743): Excessive fat around the stomach and abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Ovarian serous cystadenoma (HP:0012887): A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Ovarian dermoid cyst (HP:0025274): An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Ovarian carcinoma (HP:0025318): A malignant neoplasm originating from the surface ovarian epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Dorsocervical fat pad (HP:0025383): An area of fat accumulation at the back of the neck in the form of a hump. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Testicular adrenal rest tumor (HP:0025451): Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Enchondroma (HP:0030038): A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Paranasal sinus neoplasm (HP:0030072): A tumor that originates in the paranasal sinus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Ductal carcinoma in situ (HP:0030075): Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Schwannoma (HP:0100008): A benign nerve sheath tumor composed of Schwann cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Neoplasm of the breast (HP:0100013): A tumor (abnormal growth of tissue) of the breast. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Leydig cell neoplasia (HP:0100618): The presence of a neoplasm of the testis with origin in a Leydig cell. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Neoplasm of the pharynx (HP:0100638): A neoplasm originating in the pharynx. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Abnormal hard palate morphology (HP:0100737). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Esophageal neoplasm (HP:0100751): A tumor (abnormal growth of tissue) of the esophagus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Moon facies (HP:0500011): A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1359)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1359)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1359)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1359)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1359)
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1359)
- Papillary thyroid carcinoma (HP:0002895): The presence of a papillary adenocarcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1359)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1359)
- Follicular thyroid carcinoma (HP:0006731): The presence of an follicular adenocarcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1359)
- Neoplasm of the rectum (HP:0100743). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1359)