Details of Disease

General Information of Disease (ID: DIS3LZ44)

Disease Name	Pyruvate kinase deficiency
Synonyms	Pk deficiency; pyruvate kinase deficiency; pyruvate kinase deficiency of erythrocytes; hemolytic anaemia due to red cell pyruvate kinase deficiency; hemolytic Anemia due to pyruvate Kinase deficiency; Pyruvate Kinase Deficiency; PK deficiency; hemolytic anemia due to red cell pyruvate kinase deficiency; pyruvate kinase deficiency of red cells; hemolytic Anaemia due to pyruvate Kinase deficiency; pyruvate kinase deficiency of erythrocyte
Disease Class	5C53: Inborn energy metabolism error
Definition	Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.
Disease Hierarchy	DIS0Y78V: Anemia due to erythrocyte enzyme disorder DISEJNS0: Congenital nonspherocytic hemolytic anemia DIS30PPZ: Disorder of glycolysis DIS3LZ44: Pyruvate kinase deficiency
ICD Code	ICD-11 ICD-11: 5C53.00 Expand ICD-11 '5C53.00
Disease Identifiers	MONDO ID MONDO_0009950 MESH ID C564858 UMLS CUI C0340968 OMIM ID 266200 MedGen ID 473069 Orphanet ID 766 SNOMED CT ID 124331002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Mitapivat	DMXI8X0	Approved	NA	[1]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
RP-L301	DMDEDV3	Phase 1	Gene therapy	[2]
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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	[3]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HK1	DEDMAGE	moderate	Genetic Variation	[4]
PKLR	DETH24K	Definitive	Autosomal recessive	[5]
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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	Definitive	Autosomal recessive	[5]
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References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	ClinicalTrials.gov (NCT04105166) Gene Therapy for Pyruvate Kinase Deficiency (PKD): A Phase I Clinical Trial to Evaluate the Safety of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the Codon Optimized Red Cell Pyruvate Kinase (coRPK) Gene in Adult and Pediatric Subjects With PKD. U.S.National Institutes of Health.
3	A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency.J Pediatr Hematol Oncol. 2019 Jan;41(1):e1-e2. doi: 10.1097/MPH.0000000000001254.
4	How we manage patients with pyruvate kinase deficiency.Br J Haematol. 2019 Mar;184(5):721-734. doi: 10.1111/bjh.15758. Epub 2019 Jan 25.
5	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.