Details of Disease | DrugMAP

General Information of Disease (ID: DIS36JFX)

Disease Name	Pyruvate kinase hyperactivity
Synonyms	adenosine triphosphate, elevated, of erythrocytes; pyruvate kinase hyperactivity
Definition	Autosomal dominant phenotype characterized by increase of red blood cell ATP.
Disease Hierarchy	DISFFYB2: Pyruvate metabolism disorder DIS36JFX: Pyruvate kinase hyperactivity
Disease Identifiers	MONDO ID MONDO_0007067 MESH ID C566310 UMLS CUI C1863224 OMIM ID 102900 MedGen ID 350114

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PKLR	TT31N4S	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PKLR	DETH24K	Limited	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PKLR	OTTTM1QI	Limited	Autosomal dominant	[2]
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References

1	G-->T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP.Hum Mutat. 1997;9(3):282-5. doi: 10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.0.CO;2-Z.
2	Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population. PLoS One. 2015 Dec 14;10(12):e0144555. doi: 10.1371/journal.pone.0144555. eCollection 2015.