KEGG   DISEASE: Orotic aciduria
Entry
H00198                      Disease                                

Name
Orotic aciduria
Description
Orotic aciduria is characterized by megaloblastic anemia that is unresponsive to vitamin B12 and folic acid.
Category
Inherited metabolic disease; Hematologic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of nucleotide metabolism
   H00198  Orotic aciduria
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Nutritional or metabolic anaemias
    3A03  Other nutritional or metabolic anaemias
     H00198  Orotic aciduria
Pathway
hsa00240  Pyrimidine metabolism
Gene
UMPS; uridine monophosphate synthetase [HSA:7372] [KO:K13421]
Drug
Uridine triacetate [DR:D09985]
Other DBs
ICD-11: 3A03.0
ICD-10: D53.0
MeSH: C537136 C562589
OMIM: 258900
Reference
  Authors
Nyhan WL
  Title
Disorders of purine and pyrimidine metabolism.
  Journal
Mol Genet Metab 86:25-33 (2005)
DOI:10.1016/j.ymgme.2005.07.027
Reference
PMID:9042911
  Authors
Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y
  Title
Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.
  Journal
Am J Hum Genet 60:525-39 (1997)
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