Phenotypes associated with the disease Obesity due to melanocortin 4 receptor deficiency (ORPHA:71529):
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:71529)
- Increased adipose tissue (HP:0009126): An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:71529)
- Polyphagia (HP:0002591): A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:71529)
- Accelerated skeletal maturation (HP:0005616): An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:71529)
- Childhood-onset truncal obesity (HP:0008915): Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:71529)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71529)
- Hyperinsulinemia (HP:0000842): An increased concentration of insulin in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71529)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71529)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71529)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71529)