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hereditary recurrent myoglobinuria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary recurrent myoglobinuria

MONDO:0020504

Also known as:genetic recurrent myoglobinuria

Overview

An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Recurrent myoglobinuria; and very common findings: Muscle weakness, Fever, Highly elevated creatine kinase, and Dark urine. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	11	Muscle weakness, Reduced tendon reflexes, Type 2 muscle fiber atrophy

Prognosis

Phenotype severity distribution: 1 always present feature, 4 very common features, 11 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hereditary recurrent myoglobinuria.

2 publications have been identified in PubMed for hereditary recurrent myoglobinuria. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Seferi S (2024). [PMID: 39473663](https://pubmed.ncbi.nlm.nih.gov/39473663/). *Cureus*. [Case Report / Case Series]
Nascimento J (2024). [PMID: 39318660](https://pubmed.ncbi.nlm.nih.gov/39318660/). *Cureus*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99845

GARD

Genetic and Rare Diseases Info Center

GARD:16916

Questions for Your Care Team

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hereditary recurrent myoglobinuria

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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