Die polyzystische Nierenerkrankung 1 ist eine autosomal dominante polyzystische Nierendegeneration, die durch Mutationen im PKD1-Gen ausgelöst wird.
Die Schätzungen für die Prävalenz der Erkrankungen liegen zwischen 1:500 bis 1:2000.
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1. |
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8. |
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9. |
None (1992) Multilocus polycystic disease. ![]() |
10. |
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18. |
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19. |
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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. |
Dyer PA et al. (1982) Absence of linkage between adult polycystic kidney disease and the major histocompatibility system. ![]() |
72. |
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73. |
Hogewind BL et al. (1980) Genetic counselling for adult polycystic kidney disease. Ultrasound a useful tool in pre-symptomatic diagnosis? ![]() |
74. |
Turco AE et al. (1995) A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. ![]() |
75. |
Peral B et al. (1995) Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. ![]() |
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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83. |
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84. |
None (1994) The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. ![]() |
85. |
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87. |
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88. |
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89. |
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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. |
None (1997) Extrarenal manifestations of ADPKD. ![]() |
100. |
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101. |
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102. |
OMIM.ORG article Omim 173900![]() |