hereditary recurrent myoglobinuria
Findings
No curated finding names hereditary recurrent myoglobinuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
Definition from the Mondo Disease Ontology (MONDO:0020504), read 2026-09-29. CC BY 4.0.
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Recurrent myoglobinuriaHPOHP:0003652
- Obligate (100% of cases)
- Dark urineHPOHP:0040319
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- Highly elevated creatine kinaseHPOHP:0030234
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- Abnormality of glycolipid metabolismHPOHP:0010969
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
- Elevated circulating aldolase concentrationHPOHP:0012544
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- Exercise-induced myalgiaHPOHP:0003738
- Frequent (30% to 79% of cases)
- Exercise-induced myoglobinuriaHPOHP:0008305
- Frequent (30% to 79% of cases)
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- Frequent (30% to 79% of cases)
Show the remaining 20
- MyositisHPOHP:0100614
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- Type 2 muscle fiber atrophyHPOHP:0003554
- Frequent (30% to 79% of cases)
- Viral infection-induced rhabdomyolysisHPOHP:0003558
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Occasional (5% to 29% of cases)
- Abnormality of jaw musclesHPOHP:0045037
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
1 name
Resolves to: hereditary recurrent myoglobinuria
- Also called
- genetic recurrent myoglobinuria