Phenotypes associated with the disease myoglobinuria, acute recurrent, autosomal recessive (OMIM:268200):
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 8/8. (PMID:18817903)
- 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: 8/8. (PMID:18817903)
- 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:18817903)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:268200)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. (PMID:18817903)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: IEA. (OMIM:268200)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 7/8. (PMID:18817903)
- Myoglobinuria (HP:0002913): Presence of myoglobin in the urine. Evidence: PCS. Frequency: 8/8. (PMID:18817903)
- 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:18817903)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: IEA. (OMIM:268200)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: PCS. Frequency: 3/3. (PMID:18817903)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 8/8. (PMID:18817903)
- Acute rhabdomyolysis (HP:0008942): An acute form of rhabdomyolysis. Evidence: PCS. (PMID:18817903)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 8/8. (PMID:18817903)