KEGG   DISEASE: 小球性低色素性貧血
エントリ  
H01196                                                             
名称    
小球性低色素性貧血
  下位グループ
鉄過剰症を伴う小球性低色素性貧血 (AHMIO)
概要    
Hypochromic microcytic anemia has been associated with a defect of iron absorption due to reduced iron entry into intestinal cells. Several isoforms of NRAMP2 (SLC11A2) are expressed ubiquitously in recycling endosomes or specifically at the apical membrane of epithelial cells in intestine and kidneys, and can contribute to iron overload, whereas mutations impairing NRAMP2 function cause a form of congenital hypochromic microcytic anemia.
カテゴリ  
血液疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 03 血液・造血器の疾患
  貧血または他の赤血球系疾患
   栄養性または代謝性の貧血
    3A00  鉄欠乏性貧血
     H01196  小球性低色素性貧血
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06525  フェロトーシス
   H01196  小球性低色素性貧血
パスウェイ 
hsa04216  Ferroptosis
hsa04115  p53 signaling pathway
hsa04978  Mineral absorption
ネットワーク
nt06525 Ferroptosis
病因遺伝子 
(AHMIO1) SLC11A2 [HSA:4891] [KO:K21398]
(AHMIO2) STEAP3 [HSA:55240] [KO:K10142]
リンク   
ICD-11: 3A00.Y
OMIM: 206100 615234
文献    
PMID:15459009 (SLC11A2)
  著者
Mims MP, Guan Y, Pospisilova D, Priwitzerova M, Indrak K, Ponka P, Divoky V, Prchal JT
  タイトル
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.
  雑誌
Blood 105:1337-42 (2005)
DOI:10.1182/blood-2004-07-2966
文献    
PMID:22031863 (STEAP3)
  著者
Grandchamp B, Hetet G, Kannengiesser C, Oudin C, Beaumont C, Rodrigues-Ferreira S, Amson R, Telerman A, Nielsen P, Kohne E, Balser C, Heimpel H
  タイトル
A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.
  雑誌
Blood 118:6660-6 (2011)
DOI:10.1182/blood-2011-01-329011
LinkDB    

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