hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Findings
No curated finding names hemolytic anemia due to pyrimidine 5' nucleotidase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.
Definition from the Mondo Disease Ontology (MONDO:0009946), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
5 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.
- Hemolytic anemiaHPOHP:0001878
- 4 of 4 reported patients
- HyperbilirubinemiaHPOHP:0002904
- 3 of 3 reported patients
- Reduced circulating pyrimidine 5-prime-nucleotidase activityHPOHP:6000240
- 14 of 14 reported patients
- ReticulocytosisHPOHP:0001923
- 3 of 3 reported patients
- HemoglobinuriaHPOHP:0003641
- 1 of 4 reported patients
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.
- NT5C3AHGNC:17820
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
11 names
Resolves to: hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- Also called
- anemia, congenital, nonspherocytic hemolytic, 8anemia, hemolytic, due to UMPH1 deficiencyhemolytic anemia due to P5N deficiencyhemolytic anemia due to UMPH1 deficiencyP5N deficiencypyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due topyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due toUMPH1 deficiencyuridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due touridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due touridine 5'-monophosphate hydrolase deficiency