Details of Disease

General Information of Disease (ID: DISFDZJ3)

Disease Name Hereditary angioedema type 3
Synonyms
Hae 3; angioedema, hereditary, type 3; angioedema, hereditary, type III; estrogen-sensitive Hae; HAE3; estrogen-related Hae; Hae with normal C1 inhibitor concentration and function; angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function; hereditary angioedema with normal C1 inhibitor activity; inherited estrogen-dependent angioneurotic oedema; hereditary angioneurotic oedema type 3; F12 hereditary angioedema; HAE 3; inherited estrogen-dependent angioedema; inherited estrogen-associated angioneurotic oedema; hereditary angioedema caused by mutation in F12; inherited estrogen-dependent angioneurotic edema; hereditary angioneurotic edema type 3; inherited estrogen-associated angioneurotic edema; inherited estrogen-associated angioedema; hereditary angioedema type 3; HAE-III; angioedema, hereditary, 3
Definition Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Disease Hierarchy
DIS8X53J: Hereditary angioedema
DISFDZJ3: Hereditary angioedema type 3
Disease Identifiers
MONDO ID
MONDO_0012526
MESH ID
D056828
UMLS CUI
C1857728
OMIM ID
610618
MedGen ID
346653
Orphanet ID
100054

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
F12 TTRJSMV moderate Biomarker [1]
F12 TTRJSMV Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
F12 OTBFD2FU Definitive Autosomal dominant [2]
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References

1 An investigational RNAi therapeutic targeting Factor XII (ALN-F12) for the treatment of hereditary angioedema.RNA. 2019 Feb;25(2):255-263. doi: 10.1261/rna.068916.118. Epub 2018 Nov 21.
2 Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2006 May 19;343(4):1286-9. doi: 10.1016/j.bbrc.2006.03.092.