" /> Anemia, congenital, nonspherocytic hemolytic, 8 - CISMeF





Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 8;

Symbol : CNSHA8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to; Hemolytic anemia due to p5n deficiency; Umph1 deficiency; P5n deficiency; Hemolytic anemia due to umph1 deficiency; Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to;

Description : Deficiency of pyrimidine 5-prime nucleotidase, also called uridine 5-prime monophosphate hydrolase, causes an autosomal recessive hemolytic anemia 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).;

Inheritance : Autosomal recessive; probable heterogeneity;

Prefixed ID : #266120;

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22/05/2025


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