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autosomal dominant myoglobinuria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant myoglobinuria

MONDO:0008046

Also known as:myoglobinuria, autosomal dominant

Overview

Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.

GeneticsAutosomal dominant

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: Acute kidney injury, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Myoglobinuria, and Muscle weakness and 1 more.

Organ System	Phenotype Count	Example Features
Muscles	2	Muscle weakness, Myalgia

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:160010

Orphanet

European rare disease database

Orphanet:99846

GARD

Genetic and Rare Diseases Info Center

GARD:16917

Questions for Your Care Team

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autosomal dominant myoglobinuria

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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