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Trait

Recurrent myoglobinuria

Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.

HPO HP:0003652

Summary

Also called
Myoglobinuria, episodic, Myoglobinuria, recurrent
Body system
Laboratory abnormalityAbnormality of the genitourinary system

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

8 genes linked to Recurrent myoglobinuria

Changes in these genes cause rare conditions in which Recurrent myoglobinuria is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit betaAlwaysIn 1 condition
LPIN1lipin 1AlwaysIn 1 condition
MT-CO1mitochondrially encoded cytochrome c oxidase IAlwaysIn 1 condition
MT-CO3mitochondrially encoded cytochrome c oxidase IIIAlwaysIn 1 condition
OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEFAlwaysIn 1 condition
PYGMglycogen phosphorylase, muscle associatedOften (30–79%)In 1 condition
APTXaprataxinNot recordedIn 1 condition
COQ2coenzyme Q2, polyprenyltransferaseNot recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Myoglobinuria

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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