KEGG   DISEASE: Methemoglobinemia
Entry
H00235                      Disease                                
Name
Methemoglobinemia
Description
Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A91  Congenital methaemoglobinaemia
    H00235  Methemoglobinemia
   3A92  Hereditary methaemoglobinaemia
    H00235  Methemoglobinemia
Pathway
hsa00520  Amino sugar and nucleotide sugar metabolism
Gene
CYB5R3 [HSA:1727] [KO:K00326]
CYB5A [HSA:1528] [KO:K23490]
HBA1 [HSA:3039] [KO:K13822]
HBB [HSA:3043] [KO:K13823]
Drug
Methylene blue [DR:D02312]
Other DBs
ICD-11: 3A91 3A92
ICD-10: D74.0
OMIM: 250800 250790 617971 617973
Reference
PMID:18318771
  Authors
Percy MJ, Lappin TR
  Title
Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
  Journal
Br J Haematol 141:298-308 (2008)
DOI:10.1111/j.1365-2141.2008.07017.x
Reference
PMID:18202104
  Authors
Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, Beauvais P, Billette de Villemeur T, Vidailhet M, Roze E
  Title
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
  Journal
Brain 131:760-1 (2008)
DOI:10.1093/brain/awm337
Reference
PMID:2107882
  Authors
Kobayashi Y, Fukumaki Y, Yubisui T, Inoue J, Sakaki Y
  Title
Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.
  Journal
Blood 75:1408-13 (1990)
Reference
PMID:8168836
  Authors
Giordano SJ, Kaftory A, Steggles AW
  Title
A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.
  Journal
Hum Genet 93:568-70 (1994)
DOI:10.1007/BF00202825
Reference
PMID:8416301
  Authors
Mansouri A, Lurie AA
  Title
Concise review: methemoglobinemia.
  Journal
Am J Hematol 42:7-12 (1993)
DOI:10.1002/ajh.2830420104

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Disease (4)   
   OMIM (4)   
Drug (2)   
   KEGG DRUG (2)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (5)   
   PubMed (5)   
All databases (19)   

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