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Polycystic kidney disease 2

Disease ID:762
Name:Polycystic kidney disease 2
Associated with:1 target
Autosomal dominant polycystic kidney disease | Polycystic kidney disease
Database Links
Disease Ontology: DOID:898
OMIM: 613095
Orphanet: ORPHA730


Role:  Mutation leads to a progressive increase in cyst formation, particularly in the kidney, but also in the liver and other organs, leading to kidney disfunction and failure.
Comments:  It is proposed that the cyst formation requires a "two-hit" mechanism, where the inherited mutation is followed by a somatic mutation leading to local absence of TRPP1 and cyst formation.
References:  1,3
Mutations:  TRPP1 is associated with 18 mutation. Click here for details


No ligand related data available for Polycystic kidney disease 2


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1. 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. (1996) PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science, 272 (5266): 1339-42. [PMID:8650545]

2. Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St George-Hyslop P. (1998) A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. Kidney Int., 53 (5): 1127-32. [PMID:9573526]

3. Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P. (1999) Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol., 10 (7): 1524-9. [PMID:10405208]

4. Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S. (1999) Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. J. Am. Soc. Nephrol., 10 (11): 2342-51. [PMID:10541293]

5. Viribay M, Hayashi T, Tellería D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S, San Millán JL. (1997) Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. Hum. Genet., 101 (2): 229-34. [PMID:9402976]

6. Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC. (1997) A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). Hum. Mol. Genet., 6 (6): 949-52. [PMID:9175744]