orotic aciduria
An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.
MONDO:0019238
inborn disorder of pyrimidine metabolism
is_a
MONDO:0020112
vitamin B12- and folate-independent constitutional megaloblastic anemia
is_a
Hereditary Orotic Aciduria
exact
UMP synthtase deficiency
related
UMPS
related
orotate phosphoribosyltransferase and OMP decarboxylase deficiency
related
orotic aciduria
exact
orotic aciduria II (formerly)
related
orotic aciduria type 1
related
orotic aciduria without megaloblastic Anaemia
related
oroticaciduria
exact
oroticaciduria 1
related
orotidylic decarboxylase deficiency
exact
uridine monophosphate synthetase deficiency
exact
SPCC330.05c SPBC725.15