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hereditary angioedema type 3

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description 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.
Uniprot Description An hereditary angioedema occurring only in women. Hereditary angioedema is an autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema type 3 differs from types 1 and 2 in that both concentration and function of C1 esterase inhibitor are normal. Hereditary angioedema type 3 is precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives).
Mondo Term and Equivalent IDs
MONDO:0012526:  hereditary angioedema type 3
MESH:D056828: 
Orphanet:100054: 
SCTID:427167008: