Angioedema, Hereditary, Type Iii (HAE3)

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OMIM 57 610618 Orphanet 59 ORPHA100054 UMLS via Orphanet 74 C1857728 C1960459 MESH via Orphanet 45 D056828 ICD10 via Orphanet 34 D84.1

MedGen 42 C1857728 MeSH 44 D056828 SNOMED-CT via HPO 69 263681008 445088006 249497008 300359004 422400008 2129002 400075008 41291007 more UMLS 73 C1857728 C1960459

UniProtKB/Swiss-Prot : ⁷⁵ Hereditary angioedema 3: 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).

MalaCards based summary : Angioedema, Hereditary, Type Iii, also known as hae with normal c1 inhibitor concentration and function, is related to hereditary angioedema and angioedema. An important gene associated with Angioedema, Hereditary, Type Iii is F12 (Coagulation Factor XII). Affiliated tissues include skin and bone, and related phenotypes are vomiting and episodic abdominal pain

OMIM : ⁵⁷ Hereditary angioedema type III is a rare disorder characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. HAE III occurs almost exclusively in women and is often precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). It differs from HAE types I and II (106100) in that both concentration and function of C1 inhibitor (C1NH; 606860) are normal (summary by Dewald and Bork, 2006). (610618)

Clinical features from OMIM:

610618

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