Details of Disease

General Information of Disease (ID: DIS4RAUG)

Disease Name Hereditary recurrent myoglobinuria
Synonyms genetic recurrent myoglobinuria
Definition An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
Disease Hierarchy
DISO5FAY: Inborn error of metabolism
DIS4RAUG: Hereditary recurrent myoglobinuria
Disease Identifiers
MONDO ID
MONDO_0020504
UMLS CUI
C4274324
MedGen ID
901659
Orphanet ID
99845
SNOMED CT ID
716721003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LPIN1 OTQ75KF2 Supportive Autosomal dominant [1]
MT-CO1 OTG3O9BN Supportive Autosomal dominant [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.