pyruvate kinase deficiency of red cells
Findings
No curated finding names pyruvate kinase deficiency of red cells yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.
Definition from the Mondo Disease Ontology (MONDO:0009950), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating haptoglobin concentrationHPOHP:0020181
- 1 of 1 reported patient
- Decreased hemoglobin concentrationHPOHP:0020062
- 2 of 2 reported patients
- Erythroid hyperplasiaHPOHP:0012132
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 2 reported patients
- JaundiceHPOHP:0000952
- 1 of 1 reported patient
- PallorHPOHP:0000980
- 1 of 1 reported patient
- Reduced red cell pyruvate kinase levelHPO
Show the remaining 9
- Congenital hemolytic anemiaHPOHP:0004804
- Frequent (30% to 79% of cases)
- Elevated circulating iron concentrationHPOHP:0003452
- Frequent (30% to 79% of cases)
- Hydrops fetalisHPOHP:0001789
- Frequent (30% to 79% of cases)
- Increased circulating ferritin concentrationHPOHP:0003281
- Frequent (30% to 79% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Frequent (30% to 79% of cases)
- Abnormal erythrocyte morphologyHPOHP:0001877
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PKLRHGNC:9020
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: pyruvate kinase deficiency of red cells
- Also called
- anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficienthemolytic anaemia due to pyruvate Kinase deficiencyhemolytic anaemia due to red cell pyruvate kinase deficiencyhemolytic anemia due to pyruvate Kinase deficiencyhemolytic anemia due to red cell pyruvate kinase deficiencyPK deficiencyPyruvate Kinase Deficiencypyruvate kinase deficiency of erythrocytepyruvate kinase deficiency of erythrocytes