Details of Disease | DrugMAP

General Information of Disease (ID: DIS1YDSQ)

Disease Name	Hereditary angioedema type 2
Synonyms	hereditary angioneurotic oedema type 2; hereditary angioneurotic edema type 2; HAE-II; HAE 2
Definition	Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Disease Hierarchy	DISDL0QL: Hereditary angioedema with C1Inh deficiency DIS1YDSQ: Hereditary angioedema type 2
Disease Identifiers	MONDO ID MONDO_0015054 UMLS CUI C0398776 MedGen ID 585077 Orphanet ID 100051 SNOMED CT ID 234620006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SERPING1	TTVQ6R9	Supportive	Autosomal dominant	[1]
SERPING1	TTVQ6R9	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SERPING1	OT6CVN45	Supportive	Autosomal dominant	[1]
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References

1	Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations. Ann Hum Genet. 2014 Mar;78(2):73-82. doi: 10.1111/ahg.12052. Epub 2014 Jan 24.