Hereditary angioedema type 2

General Information (adopted from Orphanet):

Synonyms, Signs: C1 ESTERASE INHIBITOR, DEFICIENCY OF ANGIOEDEMA, HEREDITARY, TYPE II, INCLUDED
HAE2, INCLUDED
ANGIONEUROTIC EDEMA, HEREDITARY
HAE-II
HAE1
HAE 2
HANE
Hereditary angioneurotic edema type 2
Number of Symptoms 13
OrphanetNr: 100051
OMIM Id: 106100
ICD-10: D84.1
UMLs: C0398776
C1862892
MeSH:
MedDRA:
Snomed: 234620006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[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:0011855) Pharyngeal edema 2 / 7739
2
 (HPO:0002027) Abdominal pain 184 / 7739
3
 (HPO:0002013) Vomiting 191 / 7739
4
 (HPO:0005225) Intestinal edema 3 / 7739
5
 (HPO:0002014) Diarrhea 225 / 7739
6
 (HPO:0012027) Laryngeal edema 2 / 7739
7
 (OMIM) Impaired distal sensation of all modalities 3 / 7739
8
 (OMIM) Peripheral axonal neuropathy, distal, vasculitic 2 / 7739
9
 (MedDRA:10015216) Erythema marginatum 2 / 7739
10
 (OMIM) Episodic, nonpruritic, nonurticarial, nonpitting edema 2 / 7739
11
 (OMIM) Sural nerve biopsy shows axonal degeneration 3 / 7739
12
 (OMIM) Low level of C4 and C2 2 / 7739
13
 (OMIM) C1 esterase inhibitor deficiency 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. There are 2 classic types of the disorder. In type I, representing 85% of ...
Diagnosis OMIM Laurent et al. (1988) showed that sonographic demonstration of fluid in the abdomen in association with an attack of abdominal pain could be used in diagnosis.

- Prenatal Diagnosis

Stoppa-Lyonnet et al. (1987) suggested ...
Clinical Description OMIM Edema of the larynx and other portions of the airways is the most fearsome feature of this disorder. Visceral involvement with abdominal pain can lead to unnecessary laparotomy (Weinstock et al., 1987; Waytes et al., 1996).

...
Molecular genetics OMIM Stoppa-Lyonnet et al. (1987) studied DNA from multiple members of 2 families with hereditary angioedema and from 6 unrelated patients. Their results indicated that a defective structural gene was responsible for the disease. In a patient with type ...