Hereditary angioedema
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HAE Hereditary non histamine-induced angioedema Familial angioneurotic edema Hereditary bradykinine-induced angioedema Hereditary angioneurotic edema |
| Number of Symptoms | 6 |
| OrphanetNr: | 91378 |
| OMIM Id: |
106100
610618 |
| ICD-10: |
D84.1 |
| UMLs: |
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| MeSH: |
|
| MedDRA: |
10019860 |
| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-histaminic angioedema
-Rare allergic disease -Rare systemic or rheumatologic disease Rare genetic disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0005214) | Intestinal obstruction | Occasional [Orphanet] | 35 / 7739 | |||
|
|
(HPO:0002027) | Abdominal pain | Occasional [Orphanet] | 184 / 7739 | |||
|
|
(HPO:0001541) | Ascites | Occasional [Orphanet] | 94 / 7739 | |||
|
|
(HPO:0001025) | Urticaria | Very frequent [Orphanet] | 73 / 7739 | |||
|
|
(HPO:0000969) | Edema | Very frequent [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0100326) | Immunologic hypersensitivity | Occasional [Orphanet] | 28 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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