Das Phenochromozytom ist eine endokrine Erkrankung die zu einer Überproduktion von Katecholaminen führt. Verschiedene Gene sind identifiziert worden, wo Mutationen zu einem Phäochromozytom führen können. Die Vererbung is autosomal dominant allerdings mit variabler Penetranz und Expressivität.
Genetische Erkrankungen der Nebenniere | ||||
Nebennierenadenom | ||||
Phäochromozytom | ||||
GDNF | ||||
KIF1B | ||||
MAX | ||||
OCLN | ||||
RET | ||||
SDHB | ||||
SDHD | ||||
TMEM127 | ||||
VHL | ||||
Störungen des Aldosteronsystems | ||||
Störungen des Glucocorticoidhormonsystems | ||||
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17. |
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18. |
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31. |
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32. |
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33. |
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43. |
Orphanet article Orphanet ID 29072 |
44. |
OMIM.ORG article Omim 171300 |