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pyrimidine 5' nucleotidase deficiency hemolytic anemia; P5N deficiency
Pathology:
1) hemolytic anemia
2) implicated in the anemia of lead poisoning
Genetics:
1) autosomal recessive condition
2) caused by defects in NT5C3/NT5C3A gene
Clinical manifestations:
1) hemolytic anemia
2) possibly associated with learning difficulties
Laboratory:
1) peripheral smear
- basophilic stippling
2) high concentrations of pyrimidine nucleotides within erythrocytes
Interactions
disease interactions
Related
cytosolic 5'-nucleotidase 3A; cytosolic 5'-nucleotidase 3; cytosolic 5'-nucleotidase III; pyrimidine 5'-nucleotidase 1; P5'N-1; P5N-1; PN-I; uridine 5'-monophosphate hydrolase 1; p36 (NT5C3A, NT5C3, P5N1, UMPH1, HSPC233)
General
enzyme deficiency
genetic disease of the blood/bone marrow
hemolytic anemia
Database Correlations
OMIM 266120
References
OMIM :accession 266120