KEGG   DISEASE: フェリチン欠乏症
エントリ  
H02938                                                             
名称    
フェリチン欠乏症
概要    
L-ferritin deficiency (LFTD) is a rare genetic hematologic disease characterized by hypoferritinemia. Clinical symptoms include idiopathic generalized seizures and atypical restless legs syndrome. Asymptomatic cases have also been reported. Mutations in FTL have been reported causing LFTD. FTL encodes the L-ferritin subunit that helps with electron transport in and out of the ferritin core protein and plays a role in iron release.
カテゴリ  
血液疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   代謝物質の吸収または輸送の疾患
    5C64  ミネラルの吸収または輸送の疾患
     H02938  フェリチン欠乏症
病因遺伝子 
FTL [HSA:2512] [KO:K13625]
リンク   
ICD-11: 5C64.1
OMIM: 615604
文献    
  著者
Cozzi A, Santambrogio P, Privitera D, Broccoli V, Rotundo LI, Garavaglia B, Benz R, Altamura S, Goede JS, Muckenthaler MU, Levi S
  タイトル
Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.
  雑誌
J Exp Med 210:1779-91 (2013)
DOI:10.1084/jem.20130315
文献    
  著者
Cremonesi L, Cozzi A, Girelli D, Ferrari F, Fermo I, Foglieni B, Levi S, Bozzini C, Camparini M, Ferrari M, Arosio P
  タイトル
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.
  雑誌
J Med Genet 41:e81 (2004)
DOI:10.1136/jmg.2003.011718
文献    
  著者
Cadenas B, Fita-Torro J, Bermudez-Cortes M, Hernandez-Rodriguez I, Fuster JL, Llinares ME, Galera AM, Romero JL, Perez-Montero S, Tornador C, Sanchez M
  タイトル
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.
  雑誌
Pharmaceuticals (Basel) 12:ph12010017 (2019)
DOI:10.3390/ph12010017
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