Hereditary angioedema

rare

Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.

Identifiers: MONDO:0019623 Orphanet:91378
Part of: Angioedema Hereditary skin disorder
Also known as: angioedema, hereditary · deficiency of C1 esterase inhibitor · familial angioneurotic edema · familial angioneurotic oedema · HAE

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Hereditary angioedema with C1Inh deficiency	MONDO:0033946	2	SERPING1
PLG-related hereditary angioedema with normal C1inh	MONDO:0035220		PLG
Angioedema, hereditary, 4	MONDO:0025712		PLG
Angioedema, hereditary, 5	MONDO:0030293
Angioedema, hereditary, 6	MONDO:0023660		KNG1
Angioedema, hereditary, 7	MONDO:0025713
Angioedema, hereditary, 8	MONDO:0030298
Hereditary angioedema type 3	MONDO:0012526		F12
Hereditary angioedema with normal C1Inh	MONDO:0100567
Hereditary angioedema with normal C1inh not related to F12 or PLG variant	MONDO:0035734

Rare disease

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