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Mediterrane Makrothrombozytopenie

Die Mediterrane Makrothrombozytopenie ist eine autosomal rezessive Erkrankung, die durch Mutationen in deb beiden Genen ABCG5 und ABCG8 hervorgerufen wird. Es sind die gleichen Gene, die auch für die Sitosterolämia verantwortlich sind. Bei der Makrothrombozytopenie und Stomatocytose stehen jedoch vor allem der Mangel an Thrombozyten und Erythrozyten aufgrund einer verstärkten Hämolyse im Vordergrund.

Gliederung

Hereditäre Thrombozytenerkrankungen
Alloimmun Thrombozytopenie
Autoinflammatorisches periodisches Fieber mit Immundefizit und Thrombozytopenie
Bernard-Soulier-Syndrom
Glanzmann Thrombasthenie
Glycoprotein 1a-Mangel
IVIC-Syndrom
MYH9 assoziierte Erkrankungen
Mediterrane Makrothrombozytopenie
ABCG5
ABCG8
Thrombozythämie 3
Thrombozytäres Blutungsübel Typ 9
Wiskott-Aldrich-Syndrom

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OMIM.ORG article

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Orphanet article

Orphanet ID 101022 external link
Update: 14. August 2020
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