Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lipodystrophie

Die Lipodystrophie (Fettgewebsschwund) ist eine durch eine progressive Abnahme des Fettgewebes charakterisiert. Es werden zwei formen unterschieden, die partielle oder umschriebene und die generalisierte Form. Neben erworbenen Erkrankungen bei Diabetes und AIDS gibt es erbliche Formen.

Symptome

Acanthosis nigricans
Die Lipodystrophie, sowohl die generalisierte wie auch die partielle Form, kann von einer Acanthosis nigricans begleitet sein.

Gliederung

Störung der Körperfettverteilung
Fettleibigkeit
Lipodystrophie
Generalisierte Lipodystrophie
Generalisierte Lipodystrophie Typ 1
AGPAT2
Kongenitale progressive Lipodystrophie Typ 2
BSCL2
Partielle Lipodystrophie
Familiäre partielle Lipodystrophie Typ 2
LMNA
Familiäre partielle Lipodystrophie Typ 3
PPARG
Familiäre partielle Lipodystrophie Typ 4
PLIN1
Familiäre partielle Lipodystrophie Typ 5
CIDEC
Vererbte Magersucht

Referenzen:

1.

Cao H et. al. (2000) Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

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2.

Shackleton S et. al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

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3.

Speckman RA et. al. (2000) Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

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4.

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5.

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6.

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7.

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9.

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10.

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21.

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22.

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23.

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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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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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62.

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63.

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66.

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67.

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68.

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