Phenotypes associated with the disease Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome (ORPHA:90301):
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90301)
- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90301)
- Insulin-resistant diabetes mellitus (HP:0000831): A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90301)
- 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: Very frequent (HP:0040281). (ORPHA:90301)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90301)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90301)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90301)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90301)
- Enlarged polycystic ovaries (HP:0008675). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90301)