KEGG   DISEASE: Anemia due to disorders of nucleotide metabolism
Entry
H00674                      Disease                                

Name
Anemia due to disorders of nucleotide metabolism
  Subgroup
Adenylate kinase (AK) deficiency
Uridine 5-prime monophosphate hydrolase (UMPH1) deficiency
Description
Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiency of adenylate kinase and pyrimidine 5'-nucleotidase shorten the red cell lifespan.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00674  Anemia due to disorders of nucleotide metabolism
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Haemolytic anaemias
    Congenital haemolytic anaemia
     3A10  Hereditary haemolytic anaemia
      H00674  Anemia due to disorders of nucleotide metabolism
Pathway
hsa00230  Purine metabolism
hsa00240  Pyrimidine metabolism
Gene
AK1 [HSA:203] [KO:K00939]
UMPH1 [HSA:51251] [KO:K24242]
Other DBs
ICD-11: 3A10.Y
ICD-10: D55.3
OMIM: 612631 266120
Reference
PMID:1646049
  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)
Reference
  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
Reference
  Authors
Zanella A, Bianchi P, Fermo E, Valentini G
  Title
Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
  Journal
Br J Haematol 133:113-23 (2006)
DOI:10.1111/j.1365-2141.2006.05992.x
Reference
  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
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