hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
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.
MONDO:0006506
congenital nonspherocytic hemolytic anemia
is_a
MONDO:0019238
inborn disorder of pyrimidine metabolism
is_a
P5N deficiency
exact
UMPH1 deficiency
exact
anemia, congenital, nonspherocytic hemolytic, 8
exact
anemia, hemolytic, due to UMPH1 deficiency
exact
hemolytic anaemia due to P5N deficiency
related
hemolytic anaemia due to UMPH1 deficiency
related
hemolytic anemia due to P5N deficiency
exact
hemolytic anemia due to UMPH1 deficiency
exact
pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to
exact
pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to
exact
uridine 5'-monophosphate hydrolase deficiency
exact
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to
exact
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
exact