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

Referenzen:

1.	Levy NJ et. al. (1990) Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene. [^]

2.	Theriault A et. al. (1990) Regional assignment of the human C1-inhibitor gene to 11q11-q13.1. [^]

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30.	None (1970) Hereditary angioneurotic edema. Report of a large kindred with defect in C'1 esterase inhibitor and review of the literature. [^]

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54.	None (1961) Hereditary angioneurotic edema. Report of a case with gastrointestinal manifestations. [^]

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