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Hereditäres Angioödem 2

Das hereditäres Angioödem Typ 2 ist eine autosomal dominante Erkrankung die durch Missense-Mutationen im SERPING1-Gen (vormals C1NH) hervorgerufen wird. Das klinische Bild besteht in intermittierenden lokal begrenzten Ödemen der Subkutis und der Submukosa. Letztere vor allem im oberen Altmungs- und Verdauungstrakt.

Gliederung

Hereditäres Angioödem
Hereditäres Angioödem 1
Hereditäres Angioödem 2
SERPING1
Hereditäres Angioödem 3

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50.

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OMIM.ORG article

Omim 106100 external link
Update: 14. August 2020
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