- Loss of subcutaneous adipose tissue in limbs (HP:0003635): Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:435651)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:435651)
- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:435651)
- 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:435651)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:435651)
- 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:435651)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:435651)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:435651)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:435651)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:435651)
- Decreased serum leptin (HP:0003292): A decreased concentration of leptin in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:435651)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:435651)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:435651)
- 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:435651)
- Decreased adiponectin level (HP:0030685): A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:435651)
These phenotypes are associated with the disease CIDEC-related familial partial lipodystrophy (ORPHA:435651).
The following phenotypes are NOT associated with this disease:
- Loss of facial adipose tissue (HP:0000292): Loss of normal subcutaneous fat tissue in the face. Evidence: TAS. (ORPHA:435651)