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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 et al.. (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 et al.. (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, TellerĂ­a D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S et al.. (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]