Phenotypes associated with the disease glycogen storage disease VI (OMIM:232700):
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. (PMID:25266922)
- Failure to thrive in infancy (HP:0001531). Evidence: PCS. (PMID:25266922)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. (PMID:25266922)
- Hyperlipidemia (HP:0003077): An elevated lipid concentration in the blood. Evidence: TAS. (OMIM:232700)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 4/4. Onset: Infantile onset (HP:0003593). (PMID:25266922)
- 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:25266922)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: PCS. (PMID:25266922)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: IEA. (OMIM:232700)
- Reduced hepatic glycogen phosphorylase activity (HP:6000979): Activity or concentration of glycogen phosphorylase L in the liver below the lower limit of normal. Evidence: TAS. (OMIM:232700)
- 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: 4/4. (PMID:25266922)
- Increased hepatic glycogen content (HP:0006568): An increase in the amount of glycogen stored in hepatocytes compared to normal. Evidence: PCS. Frequency: 3/3. (PMID:25266922)