| H00235 | |
| H number | H00235 |
| Name | Methemoglobinemia |
| Description | Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency. |
| Category | Hematologic disease |
| Network | - |
| Gene | CYB5R3 [HSA:1727] [KO:K00326] CYB5A [HSA:1528] [KO:K23490] HBA1 [HSA:3039] [KO:K13822] HBB [HSA:3043] [KO:K13823] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Methylene blue [DR:D02312] |
| Comment | - |
| 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 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 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) 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 PMID:8416301 AUTHORS Mansouri A, Lurie AA TITLE Concise review: methemoglobinemia. JOURNAL Am J Hematol 42:7-12 (1993) DOI:10.1002/ajh.2830420104 |