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Deficiency of pyruvate kinase (CUI C0340968) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0340968

NCI Thesaurus Code: C99037  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia.

GARD Definition: Pyruvate kinase deficiency is a hereditary blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). Signs and symptoms include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. Problems may first appear in the newborn as prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood.  Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion.   - this information is from GARD/ORDR/NCATS.

NICHD Definition: An autosomal recessive disorder caused by mutations of the PKLR gene. It is the most common inherited cause of non-spherocytic hemolytic anemia.

CSP Definition: autosomal recessive deficiency of the erythrocytic isozyme of pyruvate kinase, the most common glycolytic enzyme defect in the Embden-Meyerhof pathway; deficient product (ATP) causes chronic hemolytic anemia of widely variable severity.

Synonyms & Abbreviations: (see Synonym Details)
ANEMIA, HEMOLYTIC, DACIE TYPE II
ANEMIA, HEMOLYTIC, PYRUVATE KINASE DEFICIENCY
Deficiency of phosphoenol transphosphorylase
Deficiency of phosphoenolpyruvate kinase
Deficiency of pyruvate kinase (disorder)
Deficiency of pyruvate kinase
Hemolytic Anemia due to Pyruvate Kinase Deficiency
Hemolytic anemia due to red cell pyruvate kinase deficiency
PK - Pyruvate kinase deficiency
PK deficiency
Pyruvate kinase deficiency of erythrocytes
Pyruvate Kinase Deficiency of Erythrocyte
Pyruvate kinase deficiency of red cells
pyruvate kinase deficiency

External Source Codes: 
NCI Thesaurus Code C99037 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID X20DH SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-8130 CSP
DISEASE_IDENTIFIER_ID 33812 GARD
DISEASE_IDENTIFIER_ID 5568 GARD
DISEASE_IDENTIFIER_ID 5569 GARD
DISEASE_IDENTIFIER_ID 5570 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 29 MSH
GENELOCUS ,1,q,2,1, OMIM
GENESYMBOL PK1 OMIM
GENESYMBOL PKLR OMIM
HAS_GARD_PAGE true GARD
HM D000746 MSH
HM D011770/Q000172 MSH
HM D015323 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2008-11-02T00:00:00 GARD
MDA 20121105 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150927 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NICHD_Hierarchy_Term Pyruvate Kinase Deficiency NCI
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7514/pyruvate-kinase-deficiency/resources/1 GARD
RN 0 MSH
SC 3 MSH
SOS An autosomal recessive metabolic disorder caused by mutations in the PKLR gene (pyruvate kinase). It is the most common cause of hereditary nonspherocytic hemolytic anemia and is also the most frequent enzyme abnormality of GLYCOLYSIS. OMIM: 266200 MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E88.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E88.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E88.89 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X20DH SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T825621 MSH
TERMUI T825622 MSH
TERMUI T825623 MSH
TERMUI T842371 MSH
TH GHR (2014) MSH
TH OMIM (2013) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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