Hereditary angioedema type 3

General Information (adopted from Orphanet):

Synonyms, Signs: HAE III
ESTROGEN-RELATED HAE
ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION
HAE-III
HEREDITARY ANGIOEDEMA WITH NORMAL C1 INHIBITOR ACTIVITY
HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION
ESTROGEN-SENSITIVE HAE
HAE3
HAE 3
Inherited estrogen-associated angioedema
Inherited estrogen-associated angioneurotic edema
Inherited estrogen-dependent angioedema
Inherited estrogen-dependent angioneurotic edema
Hereditary angioneurotic edema type 3
Number of Symptoms 14
OrphanetNr: 100054
OMIM Id: 610618
ICD-10: D84.1
UMLs: C1857728
C1960459
MeSH: D056828
MedDRA:
Snomed: 427167008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hereditary angioedema
 -Rare allergic disease
 -Rare genetic disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002013) Vomiting 191 / 7739
2
(HPO:0005225) Intestinal edema 3 / 7739
3
(HPO:0002574) Episodic abdominal pain 10 / 7739
4
(HPO:0100665) Angioedema 14 / 7739
5
(HPO:0012271) Episodic upper airway obstruction 1 / 7739
6
(OMIM) Vomiting, episodic 3 / 7739
7
(OMIM) Facial swelling, episodic 1 / 7739
8
(OMIM) Respiratory compromise due to swelling, episodic 1 / 7739
9
(OMIM) Swelling of the hands and feet, episodic 1 / 7739
10
(OMIM) Laryngeal swelling, episodic 1 / 7739
11
(OMIM) Intestinal edema, episodic 1 / 7739
12
(OMIM) Episodic, nonerythematous, nonpruritic, nontender edema, episodic 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Throat swelling, episodic 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Binkley and Davis (2000) reported a 3-generation Italian family with a unique type of hereditary angioedema that was estrogen-dependent. The episodes were clinically indistinguishable from types I and II, but occurred only during pregnancy or with the use ...
Molecular genetics OMIM In affected members 4 German families with HAE III, 3 of which had previously been reported by Bork et al. (2000), Dewald and Bork (2006) identified a heterozygous missense mutation in the F12 (T309K; 610619.0006). Dewald and Bork ...