Phenotypes associated with the disease lipodystrophy, congenital generalized, type 5 (OMIM:620680):
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: PCS. Frequency: 2/2. (PMID:24889630)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 2/2. (PMID:24889630)
- Decreased circulating HDL-C concentration (HP:0003233): The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:24889630)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 2/2. (PMID:24889630)
- 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: PCS. Frequency: 1/1. (PMID:24889630)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/2. (PMID:24889630)
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: PCS. Frequency: 2/2. (PMID:24889630)
- Decreased body fat percentage (HP:0041079): The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males. Evidence: PCS. Frequency: 2/2. (PMID:24889630)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/2. (PMID:24889630)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: PCS. Frequency: 2/2. (PMID:24889630)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: PCS. Frequency: 2/2. (PMID:24889630)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:24889630)
- Loss of subcutaneous adipose tissue in limbs (HP:0003635): Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Evidence: PCS. Frequency: 2/2. (PMID:24889630)
- 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: PCS. Frequency: 1/2. (PMID:24889630)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: PCS. Frequency: 1/1. (PMID:24889630)
- Hyperinsulinemia (HP:0000842): An increased concentration of insulin in the blood. Evidence: PCS. Frequency: 2/2. (PMID:24889630)