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von Hippel-Lindau syndrome

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.

Systematic

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

References:

1.

Richards FM et al. (1993) Mapping the Von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis.

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2.

Maranchie JK et al. (2004) Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location.

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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.

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4.

Bradley JF et al. (1999) Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.

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5.

Hoffman MA et al. (2001) von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

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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.

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7.

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8.

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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.

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10.

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11.

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12.

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13.

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14.

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15.

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16.

Herman JG et al. (1994) Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma.

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17.

Crossey PA et al. (1994) Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

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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.

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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.

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24.

King CR et al. (1987) Proximal 3p deletion in renal cell carcinoma cells from a patient with von Hippel-Lindau disease.

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25.

Pack SD et al. (1999) Constitutional von Hippel-Lindau (VHL) gene deletions detected in VHL families by fluorescence in situ hybridization.

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26.

Sgambati MT et al. (2000) Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents.

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27.

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29.

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30.

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33.

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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.

None (2005) Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations.

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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.

Vance JM et al. (1990) Confirmation of linkage in von Hippel-Lindau disease.

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66.

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67.

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68.

Horbach JM et al. (1989) A forme fruste of von Hippel-Lindau disease: a combination of adrenal pheochromocytoma and ipsilateral renal cell carcinoma--a case report.

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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.

Fishman RS et al. (1979) Severe pancreatic involvement in three generations in von Hippel-Lindau disease.

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79.

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80.

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81.

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82.

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83.

None (1971) Papillary cystadenoma of the epididymis. A clinicopathologic analysis of 20 cases.

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84.

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85.

None (1970) Von Hippel-Lindau syndrome: a report on three kindreds.

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86.

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87.

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88.

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89.

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90.

None (1966) Case records of the Massachusetts General Hospital. Case 47-1966.

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91.

Hennessy TG et al. (1967) Cerebellar hemangioblastoma: erythropoietic activity by radioiron assay.

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92.

Go RC et al. (1984) Segregation and linkage analyses of von Hippel Lindau disease among 220 descendants from one kindred.

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93.

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94.

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95.

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96.

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97.

Davies DR et al. (1994) Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier.

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98.

Karsdorp N et al. (1994) Von Hippel-Lindau disease: new strategies in early detection and treatment.

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99.

Richards FM et al. (1994) Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene.

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100.

Richards FM et al. (1993) Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene.

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101.

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102.

None (1997) Aberrant methylation in cancer.

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103.

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104.

Manski TJ et al. (1997) Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease.

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105.

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106.

Horton WA et al. (1976) Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members.

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107.

Webster AR et al. (1998) An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects.

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108.

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109.

Orphanet article

Orphanet ID 892 external link
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OMIM.ORG article

Omim 193300 external link
Update: Aug. 14, 2020
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