| H00674 | |
| H number | H00674 |
| Name | Anemia due to disorders of nucleotide metabolism |
| Description | Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiencies of adenylate kinase and pyrimidine 5'-nucleotidase shorten the red cell lifespan. |
| Category | Hematologic disease |
| Network | - |
| Gene | (AK) AK1 [HSA:203] [KO:K00939] (P5N) NT5C3A [HSA:51251] [KO:K24242] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3A10.Y ICD-10: D55.3 OMIM: 612631 266120 |
| Reference | PMID:1646049 (AK1) AUTHORS Lachant NA, Zerez CR, Barredo J, Lee DW, Savely SM, Tanaka KR TITLE Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases? JOURNAL Blood 77:2774-84 (1991) PMID:11369620 (NT5C3A) AUTHORS Marinaki AM, Escuredo E, Duley JA, Simmonds HA, Amici A, Naponelli V, Magni G, Seip M, Ben-Bassat I, Harley EH, Thein SL, Rees DC TITLE Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. JOURNAL Blood 97:3327-32 (2001) DOI:10.1182/blood.V97.11.3327 PMID:19291420 AUTHORS Jurecka A TITLE Inborn errors of purine and pyrimidine metabolism. JOURNAL J Inherit Metab Dis 32:247-63 (2009) DOI:10.1007/s10545-009-1094-z |