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Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Disease 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.

ORPHA:35120

Classification level: Disorder
  • Synonym(s):
    • P5N deficiency
    • UMPH1 deficiency
    • Uridine 5'-monophosphate hydrolase deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D55.3
  • ICD-11: 3A10.Y
  • OMIM: 266120
  • UMLS: C1849507
  • MeSH: C564859
  • GARD: -
  • MedDRA: -

Detailed information

Guidelines

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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