Phenotypes associated with the disease glycogen storage disease VII (OMIM:232800):
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:7513946)
- Increased total bilirubin (HP:0003573): Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. Evidence: PCS. Frequency: 3/3. (PMID:7513946)
- Reduced muscle 6-phosphofructokinase activity (HP:6000359): Activity of the enzyme 6-phosphofructokinase in muscle tissue is below the lower limit of normal. 6-phosphofructokinase (EC 2.7.1.11) is also known as phosphofructokinase I and phosphohexokinase. The PFKM gene encodes the muscle isoform of phosphofructokinase. PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. Evidence: PCS. Frequency: 3/3. (PMID:6227635)
- Elevated circulating aldolase concentration (HP:0012544): Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 1/3. (PMID:7513946)
- Exercise-induced muscle fatigue (HP:0009020): An abnormally increased tendency towards muscle fatigue induced by physical exercise. Evidence: PCS. Frequency: 1/1. (PMID:14339001)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/4. (PMID:14339001;PMID:7513946)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: PCS. Frequency: 1/3. (PMID:7513946)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. Frequency: 2/3. (PMID:7513946)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. (OMIM:232800)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: PCS. Frequency: 2/3. (PMID:7513946)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: PCS. Frequency: 3/4. (OMIM:232800;PMID:7513946)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 2/3. (PMID:7513946)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/3. (PMID:7513946)
- Easy fatigability (HP:0003388): Increased susceptibility to fatigue. Evidence: PCS. Frequency: 1/1. (PMID:14339001)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: PCS. Frequency: 1/3. (PMID:7513946)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. (OMIM:232800)
- Increased muscle glycogen content (HP:0009051): An increased amount of glycogen in muscle tissue. Evidence: PCS. Frequency: 2/2. (PMID:7513946)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: PCS. Frequency: 1/3. (PMID:7513946)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. (OMIM:232800)
- 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:2140573)
- Reduced erythrocyte 2,3-diphosphoglycerate concentration (HP:0030271): This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. Evidence: TAS. (OMIM:232800)
- Exercise-induced myoglobinuria (HP:0008305): Presence of myoglobin in the urine following exercise. Evidence: PCS. Frequency: 1/1. (PMID:14339001)
- Exercise-induced muscle cramps (HP:0003710): Sudden and involuntary contractions of one or more muscles brought on by physical exertion. Evidence: PCS. Frequency: 2/3. (PMID:7513946)
- Exercise-induced muscle stiffness (HP:0008967): A type of muscle stiffness that occurs following physical exertion. Evidence: PCS. Frequency: 1/1. (PMID:14339001)
- Gout (HP:0001997): Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. Evidence: TAS. (OMIM:232800)
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:232800)
- Increased variability in muscle fiber diameter (HP:0003557): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: PCS. Frequency: 1/3. (PMID:7513946)