Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to (P5ND)

External Ids:

OMIM 57 266120 Orphanet 59 ORPHA35120 UMLS via Orphanet 74 C1849507 ICD10 via Orphanet 34 D55.3

MedGen 42 C1849507 SNOMED-CT via HPO 69 258211005 61261009 68600005 UMLS 73 C1849507

OMIM : ⁵⁷ 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). (266120)

MalaCards based summary : Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to, is also known as p5n deficiency. An important gene associated with Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to is NT5C3A (5'-Nucleotidase, Cytosolic IIIA). Related phenotypes are hemolytic anemia and hemoglobinuria

UniProtKB/Swiss-Prot : ⁷⁵ P5N deficiency: Autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties.

Clinical features from OMIM:

266120

Search Clinical Trials , NIH Clinical Center for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to

Search GEO for disease gene expression data for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to.