Phenotypes associated with the disease glycogen storage disease IXa1 (OMIM:306000):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/13. (PMID:17689125)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. (OMIM:306000)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: TAS. (OMIM:306000)
- Reduced hepatic phosphorylase kinase activity (HP:6000333): Activity of phosphorylase kinase in liver tissue below the lower limit of normal. Phosphorylase kinase (PhK) has a major regulatory role in the breakdown of glycogen. The enzyme PhK comprises four copies each of four subunits, encoded by PHKA1, PHKA2, PHKB, and PHKG. Evidence: PCS. (PMID:21634085)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 2/15. (PMID:17689125)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 10/15. (PMID:17689125)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 4/13. (PMID:17689125)
- Reduced tissue phosphorylase kinase activity (HP:6000832): Concentration or activity of phosphorylase kinase below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. Evidence: TAS. (OMIM:306000)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/15. (PMID:17689125)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 3/15. (PMID:17689125)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:17689125)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 8/13. (PMID:17689125)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 10/15. (PMID:17689125)
- Ketosis (HP:0001946): Presence of elevated levels of ketone bodies in the body. Evidence: IEA. Frequency: 5/11. (OMIM:306000)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:306000)
- 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: TAS. (OMIM:306000)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/15. (PMID:17689125)
- Lactic acidosis (HP:0003128): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: PCS. Frequency: 5/12. (PMID:17689125)
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/5. (PMID:17689125)