KEGG   DISEASE: Polycystic kidney disease
Entry
H00542                      Disease                                
Name
Polycystic kidney disease
Description
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.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the urinary system
   H00542  Polycystic kidney disease
Human diseases in ICD-11 classification [BR:br08403]
 16 Diseases of the genitourinary system
  Diseases of the urinary system
   Cystic or dysplastic kidney disease
    GB81  Autosomal dominant polycystic kidney disease
     H00542  Polycystic kidney disease
    GB8Y  Other specified cystic or dysplastic kidney disease
     H00542  Polycystic kidney disease
Gene
(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]
Other DBs
ICD-11: GB81 GB8Y
ICD-10: Q61.2 Q61.1
MeSH: D007690
OMIM: 173900 613095 600666 263200 617610 618061
Reference
  Authors
Bergmann C
  Title
Educational paper: ciliopathies.
  Journal
Eur J Pediatr 171:1285-300 (2012)
DOI:10.1007/s00431-011-1553-z
Reference
  Authors
Chapin HC, Caplan MJ
  Title
The cell biology of polycystic kidney disease.
  Journal
J Cell Biol 191:701-10 (2010)
DOI:10.1083/jcb.201006173
Reference
  Authors
Strazzabosco M, Somlo S
  Title
Polycystic liver diseases: congenital disorders of cholangiocyte signaling.
  Journal
Gastroenterology 140:1855-9, 1859.e1 (2011)
DOI:10.1053/j.gastro.2011.04.030
Reference
  Authors
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
  Title
Mutations in GANAB, Encoding the Glucosidase IIalpha Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
  Journal
Am J Hum Genet 98:1193-207 (2016)
DOI:10.1016/j.ajhg.2016.05.004
Reference
  Authors
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
  Title
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
  Journal
Nat Genet 49:1025-1034 (2017)
DOI:10.1038/ng.3871
Reference
  Authors
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
  Title
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
  Journal
Am J Hum Genet 102:832-844 (2018)
DOI:10.1016/j.ajhg.2018.03.013
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