Details of Disease | DrugMAP

General Information of Disease (ID: DIS1M9AQ)

Disease Name	Myoglobinuria, acute recurrent, autosomal recessive
Synonyms	myoglobinuria, familial paroxysmal paralytic; rhabdomyolysis, acute recurrent; myoglobinuria, acute recurrent, autosomal recessive
Disease Hierarchy	DISBV50J: Acute disease DIS9GJQA: Hereditary myoglobinuria DISU0K94: Hereditary skeletal muscle disorder DIS4RAUG: Hereditary recurrent myoglobinuria DIS1M9AQ: Myoglobinuria, acute recurrent, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0009992 MESH ID C564832 UMLS CUI C1849386 OMIM ID 268200 MedGen ID 340308

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LPIN1	OTQ75KF2	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.