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GTR Home > Conditions/Phenotypes > Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Synonyms
HEMOLYTIC ANEMIA DUE TO P5N DEFICIENCY; HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY; P5N DEFICIENCY; PYRIMIDINE 5-PRIME NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO; UMPH1 DEFICIENCY; Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A deficiency of pyrimidine 5-prime nucleotidase (P5N), also called uridine 5-prime monophosphate hydrolase (UMPH1), causes congenital nonspherocytic hemolytic anemia-8 (CNSHA8), which is characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. The enzyme is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. Hirono et al. (1988) suggested that this deficiency is the third most common RBC enzymopathy--after G6PD (300908) and pyruvate kinase (see 266200) deficiencies--causing hemolysis (summary by Marinaki et al., 2001). [from OMIM]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CNSHA8, NT5C3, P5'N-1, P5N-1, PN-I, POMP, PSN1, UMPH, UMPH1, cN-III, hUMP1, p36, NT5C3A
    Summary: 5'-nucleotidase, cytosolic IIIA

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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