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 disorder
Brite
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 [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
PMID:16176880
  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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