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

Tuberöse Sklerose Komplex

Tuberöse Sklerose Komplex ist eine autosomal dominante Erkrankung, die durch Mutationen in den TSC-Genen ausgelöst wird. Die Erkrankung ist durch multisystemische Hamartome in Haut, Gehirn, Nieren, Lungen und Herz, welche in unterschiedlichem Alter auftreten, charakterisiert.

Gliederung

Hereditäre Hirntumoren
Gliom-Neigung
Tuberöse Sklerose Komplex
Tuberöse Sklerose 1
TSC1
Tuberöse Sklerose 2
IFNG
TSC2

Referenzen:

1.

Dabora SL et al. (2002) Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

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2.

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3.

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4.

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5.

Verhoef S et al. (1995) Somatic mosaicism and clinical variation in tuberous sclerosis complex.

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6.

Vrtel R et al. (1996) Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

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7.

Roach ES et al. (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.

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8.

Dabora SL et al. (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

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9.

Khare L et al. (2001) A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

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10.

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11.

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12.

Jansen AC et al. (2006) Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

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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.

Ali JB et al. (1998) Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

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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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44.

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47.

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48.

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49.

None (1987) Tuberous sclerosis and ABO.

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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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56.

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57.

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58.

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59.

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71.

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72.

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73.

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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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83.

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84.

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85.

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86.

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87.

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88.

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90.

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93.

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94.

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95.

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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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109.

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111.

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112.

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113.

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114.

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Update: 14. August 2020
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