Der kombinierter Hypophysenhormonmangel mit verteifter Halswirbelsäule ist eine autosomal rezessive Erkrankung die durch Mutationen im LHX3-Gen hervorgerufen wird. Neben dem Mangel an fast allen Hypophysenhormonen fällt bei den Patienten eine Versteifung der Halswirbelsäule und eine Innenohrschwerhörigkeit auf.
Kombinierter Hypophysenhormon-Mangel | ||||
Hyophysenhormonmangel Typ 1 | ||||
Hyophysenhormonmangel Typ 2 | ||||
Hyophysenhormonmangel Typ 3 | ||||
LHX3 | ||||
Hyophysenhormonmangel Typ 4 | ||||
Hyophysenhormonmangel Typ 5 | ||||
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OMIM.ORG article Omim 221750 |