KEGG   DISEASE: 多発性嚢胞腎
エントリ  
H00542                                                             
名称    
多発性嚢胞腎
概要    
Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts.
カテゴリ  
先天奇形
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
    GB81  常染色体優性多発嚢胞腎
     H00542  多発性嚢胞腎
    GB8Y  その他の明示された嚢胞腎または異形成腎
     H00542  多発性嚢胞腎
指定難病 [jp08407.html]
 H00542
病因遺伝子 
(PKD1) PKD1 [HSA:5310] [KO:K04985]
(PKD2) PKD2 [HSA:5311] [KO:K04986]
(PKD3) GANAB [HSA:23193] [KO:K05546]
(PKD4) PKHD1 [HSA:5314] [KO:K19865]
(PKD5) DZIP1L [HSA:199221] [KO:K16470]
(PKD6) DNAJB11 [HSA:51726] [KO:K09517]
(PKD7) ALG5 [HSA:29880] [KO:K00729]
(PKD8) NEK8 [HSA:284086] [KO:K20877]
(PKD9) IFT140 [HSA:9742] [KO:K19672]
リンク   
ICD-11: GB81 GB8Y
MeSH: D007690
OMIM: 173900 613095 600666 263200 617610 618061 620056 620903 621164
文献    
  著者
Bergmann C
  タイトル
Educational paper: ciliopathies.
  雑誌
Eur J Pediatr 171:1285-300 (2012)
DOI:10.1007/s00431-011-1553-z
文献    
  著者
Chapin HC, Caplan MJ
  タイトル
The cell biology of polycystic kidney disease.
  雑誌
J Cell Biol 191:701-10 (2010)
DOI:10.1083/jcb.201006173
文献    
  著者
Strazzabosco M, Somlo S
  タイトル
Polycystic liver diseases: congenital disorders of cholangiocyte signaling.
  雑誌
Gastroenterology 140:1855-9, 1859.e1 (2011)
DOI:10.1053/j.gastro.2011.04.030
文献    
PMID:8004675 (PKD1)
  タイトル
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease  Consortium.
  雑誌
Cell 77:881-94 (1994)
DOI:10.1016/0092-8674(94)90137-6
文献    
PMID:8650545 (PKD2)
  著者
Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJ, Somlo S
  タイトル
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
  雑誌
Science 272:1339-42 (1996)
DOI:10.1126/science.272.5266.1339
文献    
PMID:27259053 (PKD3)
  著者
Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Banales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrezet MP, Ferec C, Le Meur Y, Torres VE, Harris PC
  タイトル
Mutations in GANAB, Encoding the Glucosidase IIalpha Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
  雑誌
Am J Hum Genet 98:1193-207 (2016)
DOI:10.1016/j.ajhg.2016.05.004
文献    
PMID:11919560 (PKD4)
  著者
Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC
  タイトル
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
  雑誌
Nat Genet 30:259-69 (2002)
DOI:10.1038/ng833
文献    
PMID:28530676 (PKD5)
  著者
Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Bruchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wuhl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C
  タイトル
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
  雑誌
Nat Genet 49:1025-1034 (2017)
DOI:10.1038/ng.3871
文献    
PMID:29706351 (PKD6)
  著者
Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrezet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Ferec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE, Harris PC
  タイトル
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
  雑誌
Am J Hum Genet 102:832-844 (2018)
DOI:10.1016/j.ajhg.2018.03.013
文献    
PMID:35896117 (PKD7)
  著者
Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefevre S, Knebelmann B, Harris PC, Trouve P, Despres A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R, Le Meur Y, Audrezet MP, Cornec-Le Gall E
  タイトル
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
  雑誌
Am J Hum Genet 109:1484-1499 (2022)
DOI:10.1016/j.ajhg.2022.06.013
文献    
PMID:37598857 (PKD8)
  著者
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E, Larsen M, Hertz JM, Lilien MR, Obeidova L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R
  タイトル
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
  雑誌
Kidney Int 104:995-1007 (2023)
DOI:10.1016/j.kint.2023.07.021
文献    
PMID:34890546 (PKD9)
  著者
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrezet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA, Harris PC
  タイトル
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
  雑誌
Am J Hum Genet 109:136-156 (2022)
DOI:10.1016/j.ajhg.2021.11.016
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