- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:79083)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:79083)
- Lipoatrophy (HP:0100578): Localized loss of fat tissue. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:79083)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79083)
- 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:79083)
- Xanthomatosis (HP:0000991): The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79083)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79083)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79083)
- 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:79083)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79083)
- Secondary amenorrhea (HP:0000869). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79083)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79083)
- Atherosclerosis (HP:0002621): A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79083)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79083)
- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Loss of facial adipose tissue (HP:0000292): Loss of normal subcutaneous fat tissue in the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- 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:79083)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Coronary artery atherosclerosis (HP:0001677): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Generalized hirsutism (HP:0002230): Abnormally increased hair growth over much of the entire body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Calf muscle pseudohypertrophy (HP:0003707): Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Maternal diabetes (HP:0009800): Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Abnormality of skeletal muscle fiber size (HP:0012084): Any abnormality of the size of the skeletal muscle cell. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Eclampsia (HP:0100601): An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Dysmenorrhea (HP:0100607): Pain during menstruation that interferes with daily activities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79083)
- Primary amenorrhea (HP:0000786). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79083)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79083)
- Prominent veins on trunk (HP:0007457): Prominent thoracic and abdominal veins. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79083)
These phenotypes are associated with the disease PPARG-related familial partial lipodystrophy (ORPHA:79083).