ORPHA:91378
Hereditary angioedema
Synonyms: Familial angioneurotic edema · HAE · Hereditary angioneurotic edema · Hereditary bradykinine-induced angioedema · Hereditary non histamine-induced angioedema
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary angioedema | Familial angioneurotic edema · HAE · Hereditary angioneurotic edema · Hereditary bradykinine-induced angioedema · Hereditary non histamine-induced angioedema |
| fr | Angio-oedème héréditaire | Angio-oedème bradykinique héréditaire · Angio-oedème non histaminique héréditaire · OANH · Oedème angioneurotique familial · Oedème angioneurotique héréditaire |
| de | Angioödem, hereditäres | Angioneurotisches Ödem, familiäres · Angioneurotisches Ödem, hereditäres · Angioödem, hereditäres, Bradykinin-induziertes · Angioödem, hereditäres, nicht-Histamin-induziertes · HAE |
| es | Angioedema hereditario | AEH · Angioedema hereditario inducido por bradiquinina · Angioedema hereditario no inducido por histamina · Edema angioneurótico familar · Edema angioneurótico hereditario |
| it | Angioedema ereditario | Edema angioneurotico ereditario · Edema angioneurotico, forma familiare · HAE |
| nl | Erfelijk angio-oedeem | Erfelijk angioneurotisch oedeem · Erfelijk bradykinine-geïnduceerd angio-oedeem · Erfelijk niet-histamine-geïnduceerd angio-oedeem · Familiaal angioneurotisch oedeem · HAE |
| pt | Angioedema hereditário | |
| pl | Dziedziczny obrzęk naczynioruchowy | Dzidziczny obrzęk naczynioruchowy indukowany bradykininą · Dziedziczny niehistaminowy obrzęk naczynioruchowy · Dziedziczny obrzęk angioneurotyczny · HAE · Rodzinny obrzęk angioneurotyczny |
| cs | Hereditární angioedém | Familiární angioneurotický edém · HAE · Dědičný angioneurotický edém · Dědičný angioedém vyvolaný bradykininem · Dědičný angioedém nevyvolaný histaminem |
| uk | Спадковий ангіоневротичний набряк | Сімейний ангіоневротичний набряк · HAE · Спадковий ангіоневротичний набряк · Спадковий брадикінін-індукований ангіоневротичний набряк · Спадковий негістаміновий ангіоневротичний набряк |
| zh | 遗传性血管性水肿 | 遗传性肺组胺介导血管性水肿 |
| tr | Kalıtsal anjiyoödem | HAE · Ailesel anjiyonörotik ödem · Kalıtsal anjiyonörotik ödem · Kalıtsal bradikininin neden olduğu anjiyoödem · Kalıtsal histamin kaynaklı olmayan anjiyoödem |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106100 | BTNT | validated | |
| OMIM | 610618 | BTNT | validated | |
| OMIM | 619360 | BTNT | validated | |
| OMIM | 619361 | BTNT | validated | |
| OMIM | 619363 | BTNT | validated | |
| OMIM | 619366 | BTNT | validated | |
| OMIM | 619367 | BTNT | validated | |
| ICD-11 | 4A00.14 | E | specific | validated |
| MONDO | 0019623 | E | validated | |
| MeSH | D054179 | E | validated | |
| UMLS | C0019243 | E | validated | |
| GARD | 5979 | E | validated | |
| MedDRA | 10019860 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:658Non-histaminic angioedema
rare immunological diseases - ORPHA:183770Rare genetic immune disease
rare genetic diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Europe | Value and class | Validated | 23662043[PMID]_European Medicines Agency 2018[OTHER] |
| Point prevalence | 1-9 / 100 000 | 1.4 / 100 000 | Denmark | Value and class | Validated | 19709101[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.51 / 100 000 | Norway | Value and class | Validated | 11202238[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.09 / 100 000 | Spain | Value and class | Validated | 15875532[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91378
- This record as JSON: /data/d/91378.json