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hemolytic anemia due to pyrimidine 5′ nucleotidase deficiency

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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.

Synonyms

  • P5N deficiency
  • UMPH1 deficiency
  • Umph1 deficiency
  • anemia, hemolytic, due to UMPH1 deficiency
  • hemolytic Anaemia due to P5N deficiency
  • hemolytic Anaemia due to Umph1 deficiency
  • hemolytic Anemia due to P5N deficiency
  • hemolytic Anemia due to Umph1 deficiency
  • pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anaemia due to
  • pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to
  • uridine 5'-monophosphate hydrolase deficiency
  • uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to
  • uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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