- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:280356)
- Hyperinsulinemia (HP:0000842): An increased concentration of insulin in the blood. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:280356)
- Insulin-resistant diabetes mellitus at puberty (HP:0000877). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:280356)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:280356)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:280356)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:280356)
- Lipoatrophy (HP:0100578): Localized loss of fat tissue. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:280356)
- Infertility (HP:0000789). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280356)
- Loss of subcutaneous adipose tissue in limbs (HP:0003635): Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280356)
- Reduced subcutaneous adipose tissue (HP:0003758): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280356)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280356)
- Loss of gluteal subcutaneous adipose tissue (HP:0009017): Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280356)
- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280356)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280356)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280356)
- Abnormal circulating hormone concentration (HP:0003117): Concentration of a hormone in the blood circulation outside of normal limits. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280356)
These phenotypes are associated with the disease PLIN1-related familial partial lipodystrophy (ORPHA:280356).