Details of Disease

General Information of Disease (ID: DISVBL0U)

• Disease Name: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
• Synonyms: hemolytic Anemia due to P5N deficiency; pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to; uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to; hemolytic Anaemia due to Umph1 deficiency; pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anaemia due to; hemolytic Anemia due to Umph1 deficiency; Umph1 deficiency; uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to; hemolytic Anaemia due to P5N deficiency; anemia, hemolytic, due to UMPH1 deficiency; UMPH1 deficiency; uridine 5'-monophosphate hydrolase deficiency; P5N deficiency
• 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.
• Disease Hierarchy:
  DIS487SI: Hereditary haemolytic anemia
  DIS2T2XO: Inborn disorder of pyrimidine metabolism
  DISVBL0U: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009946
  MESH ID: C564859
  UMLS CUI: C1849507
  OMIM ID: 266120
  MedGen ID: 341470
  Orphanet ID: 35120

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NT5C3A	OT67KZJA	Definitive	Autosomal recessive	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.