Von Hippel-Lindau syndrome is an autosomal dominant disorder caused by mutations of the VHL gene. The syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts.
Hereditary renal tumors | ||||
Hereditary leiomyomatosis and renal cell cancer | ||||
Hereditary papillary renal cell carcinoma | ||||
Nonpapillary renal cell carcinoma | ||||
Wilms tumor | ||||
von Hippel-Lindau syndrome | ||||
VHL | ||||
1. |
Richards FM et al. (1993) Mapping the Von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis. |
2. |
Maranchie JK et al. (2004) Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. |
3. |
Gallou C et al. (1999) Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. |
4. |
Bradley JF et al. (1999) Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. |
5. |
Hoffman MA et al. (2001) von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. |
6. |
Mahon PC et al. (2001) FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity. |
7. |
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8. |
TISHERMAN SE et al. (1962) Familial pheochromocytoma. |
9. |
Corn PG et al. (2003) Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein. |
10. |
Neumann HP et al. (1991) Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. |
11. |
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12. |
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13. |
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14. |
Chen F et al. (1995) Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. |
15. |
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16. |
Herman JG et al. (1994) Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. |
17. |
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18. |
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19. |
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20. |
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21. |
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22. |
Schimke RN et al. (1998) Functioning carotid paraganglioma in the von Hippel-Lindau syndrome. |
23. |
Cascón A et al. (2007) Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients. |
24. |
King CR et al. (1987) Proximal 3p deletion in renal cell carcinoma cells from a patient with von Hippel-Lindau disease. |
25. |
Pack SD et al. (1999) Constitutional von Hippel-Lindau (VHL) gene deletions detected in VHL families by fluorescence in situ hybridization. |
26. |
Sgambati MT et al. (2000) Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. |
27. |
Webster AR et al. (2000) Risk of multisystem disease in isolated ocular angioma (haemangioblastoma) |
28. |
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29. |
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30. |
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31. |
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32. |
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33. |
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34. |
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35. |
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36. |
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37. |
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38. |
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39. |
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40. |
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41. |
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42. |
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43. |
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44. |
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45. |
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46. |
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47. |
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48. |
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49. |
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50. |
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51. |
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52. |
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53. |
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54. |
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55. |
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56. |
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57. |
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58. |
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59. |
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60. |
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61. |
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62. |
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63. |
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64. |
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65. |
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66. |
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67. |
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68. |
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69. |
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70. |
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71. |
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72. |
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73. |
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74. |
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75. |
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76. |
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77. |
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78. |
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79. |
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80. |
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81. |
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82. |
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93. |
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94. |
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97. |
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98. |
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99. |
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100. |
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101. |
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102. |
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103. |
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104. |
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105. |
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106. |
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107. |
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109. |
Orphanet article Orphanet ID 892 |
110. |
OMIM.ORG article Omim 193300 |