Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

von Hippel-Lindau-Syndrom

Das von Hipple-Lindau-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen des VHL-Gens hervorgerufen wird. Zum Syndrom gehören Hämangioblastome von Hirn, Rückenmark und Retina, Nierenzysten und renalen Klarzellkarzinomen, Phäochromozytome, Pankreaszysten und andere neuroendokrine Tumoren, Tumore des Nebenhodens und des Ligamentum latum.

Gliederung

Hereditäre Nierentumoren
Hereditäre Leiomyomatose mit Nierenzellkarzinom
Hereditäres papilläres Nierenzellkarzinom
Nichtpapilläres Nierenzellkarzinom
Wilms-Tumor
von Hippel-Lindau-Syndrom
VHL

Referenzen:

1.

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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.

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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.

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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.

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23.

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24.

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25.

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26.

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27.

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29.

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38.

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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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60.

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61.

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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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73.

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74.

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77.

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79.

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80.

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82.

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83.

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85.

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91.

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92.

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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.

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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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108.

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Orphanet article

Orphanet ID 892 external link
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OMIM.ORG article

Omim 193300 external link
Update: 14. August 2020
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