KEGG   DISEASE: 常染色体優性遺伝性尿細管間質性腎疾患
エントリ  
H00541                                                             
名称    
常染色体優性遺伝性尿細管間質性腎疾患
  下位グループ
家族性若年性高尿酸血症性腎症 (HNFJ) [DS:H02011]
髄質性嚢胞腎 [DS:H02012]
概要    
Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is a broad term that encompasses a group of largely monosystemic disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. The clinical manifestations of typical ADTKD appear to be confined to the kidney, whereas atypical type caused by mutations in HNF1B results in variable extrarenal manifestations.
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
   嚢胞腎または異形成腎
    GB82  常染色体優性尿細管間質性疾患
     H00541  常染色体優性遺伝性尿細管間質性腎疾患
パスウェイ 
hsa04614  Renin-angiotensin system
病因遺伝子 
(ADTKD1) UMOD [HSA:7369] [KO:K18274]
(ADTKD2) MUC1 [HSA:4582] [KO:K06568]
(ADTKD3) HNF1B [HSA:6928] [KO:K08034]
(ADTKD4) REN [HSA:5972] [KO:K01380]
(ADTKD5) SEC61A1 [HSA:29927] [KO:K10956]
リンク   
ICD-11: GB82
ICD-10: N15 E79.0 Q61.5
MeSH: C537696
OMIM: 162000 174000 137920 613092 617056
文献    
PMID:25738250
  著者
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O
  タイトル
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
  雑誌
Kidney Int 88:676-83 (2015)
DOI:10.1038/ki.2015.28
文献    
PMID:12471200 (UMOD)
  著者
Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ
  タイトル
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
  雑誌
J Med Genet 39:882-92 (2002)
DOI:10.1136/jmg.39.12.882
文献    
PMID:23396133 (MUC1)
  著者
Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hulkova H, Sovova J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ
  タイトル
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
  雑誌
Nat Genet 45:299-303 (2013)
DOI:10.1038/ng.2543
文献    
PMID:12675839 (HNF1B)
  著者
Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT
  タイトル
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
  雑誌
Kidney Int 63:1645-51 (2003)
DOI:10.1046/j.1523-1755.2003.00903.x
文献    
PMID:19664745 (REN)
  著者
Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gubler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S
  タイトル
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
  雑誌
Am J Hum Genet 85:204-13 (2009)
DOI:10.1016/j.ajhg.2009.07.010
文献    
PMID:27392076 (SEC61A1)
  著者
Bolar NA, Golzio C, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Pristoupilova A, Hodanova K, Vyletal P, Hartmannova H, Stranecky V, Hulkova H, Baresova V, Jedlickova I, Sovova J, Hnizda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL
  タイトル
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
  雑誌
Am J Hum Genet 99:174-87 (2016)
DOI:10.1016/j.ajhg.2016.05.028

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Disease (5)   
   OMIM (5)   
Gene (10)   
   KEGG ORTHOLOGY (5)   
   KEGG GENES (5)   
Literature (6)   
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