Phenotypes associated with the disease McCune-Albright syndrome (OMIM:174800):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:27857528)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: PCS. Frequency: 1/1. (PMID:27857528)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: IEA. (OMIM:174800)
- Typified by somatic mosaicism (HP:0001442): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: PCS. (PMID:18489744)
- Pituitary adenoma (HP:0002893): A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). Evidence: IEA. (OMIM:174800)
- 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: IEA. (OMIM:174800)
- Intestinal polyposis (HP:0200008): The presence of multiple polyps in the intestine. Evidence: TAS. (OMIM:174800)
- Craniofacial hyperostosis (HP:0004493): Excessive growth of the craniofacial bones. Evidence: IEA. (OMIM:174800)
- Abnormal circulating renin concentration (HP:0040084): A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. Evidence: PCS. Frequency: 0/1. (PMID:27857528)
- Pancreatic intraductal papillary mucinous neoplasm (HP:6000657): Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections. Evidence: PCS. (PMID:25719192)
- Abnormal circulating aldosterone concentration (HP:0040085). Evidence: PCS. Frequency: 0/1. (PMID:27857528)
- Polyostotic fibrous dysplasia (HP:0010735): Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome. Evidence: PCS. Frequency: 11/11. (PMID:18489744;PMID:27857528)
- Sclerotic ilium (HP:6000869): An elevation in bone density in the ilium. Sclerosis is normally detected on a radiograph as an area of increased opacity. Evidence: PCS. Frequency: 1/1. (PMID:27857528)
- 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: PCS. (PMID:18489744)
- Hyperthyroidism (HP:0000836): An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). Evidence: PCS. Frequency: 1/1. (PMID:27857528)
- 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: TAS. (OMIM:174800)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: IEA. (OMIM:174800)
- Hyperparathyroidism (HP:0000843): Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Evidence: IEA. (OMIM:174800)
- 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:174800)
- Large cafe-au-lait macules with irregular margins (HP:0005605): Large hypermelanotic macules with jagged borders. Evidence: PCS. Frequency: 11/11. (PMID:18489744;PMID:27857528)
- 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:174800)
- Pathologic fracture (HP:0002756): A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. Evidence: PCS. (PMID:18489744)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: IEA. (OMIM:174800)