Details of Disease

General Information of Disease (ID: DIS9GJQA)

Disease Name Hereditary myoglobinuria
Synonyms myoglobinurias
Definition TODO: cede to HPO
Disease Hierarchy
DISOWG27: Myopathy
DIS9GJQA: Hereditary myoglobinuria
Disease Identifiers
MONDO ID
MONDO_0000866
MESH ID
D009212
UMLS CUI
C0027080
MedGen ID
44557
HPO ID
HP:0002913
SNOMED CT ID
48165008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GSR TTEP6RV moderate Biomarker [1]
LDHA TTW76JE Strong Biomarker [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CPT2 OTIN6G20 Strong Biomarker [3]
LPIN1 OTQ75KF2 Strong Biomarker [4]
TANGO2 OTT9UI89 Strong CausalMutation [5]
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References

1 Reversal of experimental myoglobinuric acute renal failure in rats by quercetin, a bioflavonoid.Pharmacology. 2005 Jan;73(1):49-56. doi: 10.1159/000081074. Epub 2004 Sep 27.
2 Discovery of N-hydroxyindole-based inhibitors of human lactate dehydrogenase isoform A (LDH-A) as starvation agents against cancer cells. J Med Chem. 2011 Mar 24;54(6):1599-612. doi: 10.1021/jm101007q. Epub 2011 Feb 18.
3 A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.J Neurol Sci. 2005 Dec 15;239(1):21-4. doi: 10.1016/j.jns.2005.07.008. Epub 2005 Sep 15.
4 Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.J Inherit Metab Dis. 2012 Nov;35(6):1119-28. doi: 10.1007/s10545-012-9461-6. Epub 2012 Apr 6.
5 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21.