Hereditary angioedema type 1

General Information (adopted from Orphanet):

Synonyms, Signs: C1 ESTERASE INHIBITOR, DEFICIENCY OF ANGIOEDEMA, HEREDITARY, TYPE II, INCLUDED
HAE2, INCLUDED
ANGIONEUROTIC EDEMA, HEREDITARY
HAE1
HAE-I
HANE
Hereditary angioneurotic edema type 1
Number of Symptoms 19
OrphanetNr: 100050
OMIM Id: 106100
ICD-10: D84.1
UMLs: C0398775
C2717906
MeSH: C538577
MedDRA:
Snomed: 234619000

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:0003477) Peripheral axonal neuropathy 62 / 7739
3
 (HPO:0005225) Intestinal edema 3 / 7739
4
 (HPO:0002027) Abdominal pain 184 / 7739
5
 (HPO:0002013) Vomiting 191 / 7739
6
 (HPO:0002014) Diarrhea 225 / 7739
7
 (HPO:0100665) Angioedema 14 / 7739
8
 (HPO:0010783) Erythema 138 / 7739
9
 (HPO:0012027) Laryngeal edema 2 / 7739
10
 (HPO:0001600) Abnormality of the larynx 15 / 7739
11
 (HPO:0002960) Autoimmunity 78 / 7739
12
 (MedDRA:10015216) Erythema marginatum 2 / 7739
13
 (OMIM) Low level of C4 and C2 2 / 7739
14
 (OMIM) C1 esterase inhibitor deficiency 2 / 7739
15
 (OMIM) Sural nerve biopsy shows axonal degeneration 3 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (OMIM) Peripheral axonal neuropathy, distal, vasculitic 2 / 7739
18
 (OMIM) Episodic, nonpruritic, nonurticarial, nonpitting edema 2 / 7739
19
 (OMIM) Impaired distal sensation of all modalities 3 / 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 ...