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

Kombinierter Hypophysenhormon-Mangel

Der kombinierter Hypophysenhormon-Mangel ist eine Gruppe von Erkrankungen mit Entwicklungsstörungen der Hypophyse. Ursächlich sind Mutationen in verschiedenen TRanskriptionsfaktoren, die für die Entwicklung der Hypophyse vernantwortlich sind. Klinische Erscheinungen sind durch den Hypophysenhormon-Mangel geprägt. Hinzu können aber noch weitere Störungen im Zentralnervensystem vorhanden sein. Die Vererbung kann sowohl dominant als auch rezessiv erfolgen.

Gliederung

Erbliche Erkrankungen der Hypophyse
Familiäre und sporadische Hypophysenadenome
Kombinierter Hypophysenhormon-Mangel
Hyophysenhormonmangel Typ 1
POU1F1
Hyophysenhormonmangel Typ 2
PROP1
Hyophysenhormonmangel Typ 3
LHX3
Hyophysenhormonmangel Typ 4
LHX4
Hyophysenhormonmangel Typ 5
HESX1

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Update: 14. August 2020
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