Phenotypes associated with the disease familial partial lipodystrophy, Kobberling type (OMIM:608600):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:608600)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: IEA. (OMIM:608600)
- Increased facial adipose tissue (HP:0000287): An increased amount of subcutaneous fat tissue in the face. Evidence: IEA. (OMIM:608600)
- Xanthomatosis (HP:0000991): The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Evidence: IEA. (OMIM:608600)
- Abnormality of the musculature (HP:0003011): Abnormality originating in one or more muscles, i.e., of the set of muscles of body. Evidence: IEA. (OMIM:608600)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:608600)
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: IEA. (OMIM:608600)
- Increased subcutaneous truncal adipose tissue (HP:0009003): The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. Evidence: TAS. (OMIM:608600)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:608600)
- Acute pancreatitis (HP:0001735): A acute form of pancreatitis. Evidence: IEA. (OMIM:608600)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: TAS. (OMIM:608600)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: IEA. (OMIM:608600)
- Loss of gluteal subcutaneous adipose tissue (HP:0009017): Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. Evidence: TAS. (OMIM:608600)
- Loss of subcutaneous adipose tissue in limbs (HP:0003635): Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Evidence: TAS. (OMIM:608600)
- Prominent superficial veins (HP:0001015): A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal. Evidence: IEA. (OMIM:608600)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:608600)
- Increased adipose tissue around the neck (HP:0000468): An increased amount of subcutaneous fat tissue around the neck. Evidence: IEA. (OMIM:608600)
- 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: IEA. (OMIM:608600)
- 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: IEA. (OMIM:608600)