KEGG   DISEASE: カリオメガリック間質性腎炎
エントリ  
H02577                                                             
名称    
カリオメガリック間質性腎炎
概要    
Karyomegalic interstitial nephritis (KMIN) is a rare hereditary cause of chronic kidney disease. It typically causes progressive renal impairment with haemoproteinuria. It has been identified that mutations in FAN1 cause KMIN. The FAN1 protein has nuclease activity and acts in DNA interstrand cross-link (ICL) repair within the Fanconi anemia pathway.
カテゴリ  
泌尿器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 16 泌尿生殖器系の疾患
  尿路系の疾患
   腎尿細管間質性疾患
    GB55  慢性尿細管間質性腎炎
     H02577  カリオメガリック間質性腎炎
パスウェイに基づく疾患分類 [BR:jp08402]
 複製と修復
  nt06508  鎖間架橋修復
   H02577  カリオメガリック間質性腎炎
パスウェイ 
hsa03460  Fanconi anemia pathway
ネットワーク
nt06508 Interstrand crosslink repair
病因遺伝子 
FAN1 [HSA:22909] [KO:K15363]
リンク   
ICD-11: GB55.Y
MeSH: D009394
OMIM: 614817
文献    
  著者
Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F
  タイトル
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
  雑誌
Nat Genet 44:910-5 (2012)
DOI:10.1038/ng.2347
文献    
  著者
Law S, Gillmore J, Gilbertson JA, Bass P, Salama AD
  タイトル
Karyomegalic interstitial nephritis with a novel FAN1 gene mutation and concurrent ALECT2 amyloidosis.
  雑誌
BMC Nephrol 21:74 (2020)
DOI:10.1186/s12882-020-01733-9
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