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 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
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.
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.
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.
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
Title
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.