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Hereditary angioedema type 3(HAE3)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: ESTROGEN-RELATED HAE; ESTROGEN-SENSITIVE HAE; HAE3; Hereditary angioedema, type III
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): F12 (5q35.3)
Monarch Initiative: MONDO:0012526
OMIM®: 610618
Orphanet: ORPHA100054


Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.

There are three types of hereditary angioedema, called types I, II, and III, which can be distinguished by their underlying causes and levels of a protein called C1 inhibitor in the blood. The different types have similar signs and symptoms. Type III was originally thought to occur only in women, but families with affected males have been identified.

Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. On average, untreated individuals have an attack every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family. [from MedlinePlus Genetics]

Clinical features

From HPO
Episodic abdominal pain
MedGen UID:
Concept ID:
An intermittent form of abdominal pain.
MedGen UID:
Concept ID:
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Intestinal edema
MedGen UID:
Concept ID:
Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.
Pharyngeal edema
MedGen UID:
Concept ID:
Pathologic Function
Abnormal accumulation of fluid leading to swelling of the pharynx.
Episodic upper airway obstruction
MedGen UID:
Concept ID:
Intermittent episodes of increased resistance to the passage of air in the upper airway.
Facial edema
MedGen UID:
Concept ID:
Pathologic Function
Swelling due to an excessive accumulation of fluid in facial tissues.
MedGen UID:
Concept ID:
Pathologic Function
Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Hereditary angioedema type 3 in Orphanet.

Professional guidelines


Šimac DV, Štimac T, Novak S
Curr Allergy Asthma Rep 2022 Oct;22(10):135-140. Epub 2022 Aug 31 doi: 10.1007/s11882-022-01040-3. PMID: 36044174


Orphanet, Non histamine-induced angioedema, 2009

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