H00198 | |
H number | H00198 |
Name | Orotic aciduria |
Description | Orotic aciduria is characterized by megaloblastic anemia that is unresponsive to vitamin B12 and folic acid. |
Category | Inherited metabolic disorder |
Network | - |
Gene | UMPS [HSA:7372] [KO:K13421] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Uridine triacetate [DR:D09985] |
Comment | - |
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 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) |