ORPHA:100051
Hereditary angioedema type 2
Synonyms: HAE 2 · HAE-II · Hereditary angioneurotic edema type 2
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary angioedema type 2 | HAE 2 · HAE-II · Hereditary angioneurotic edema type 2 |
| fr | Angio-oedème héréditaire type II | Angio-oedème bradykinique héréditaire de type II · HAE 2 · HAE-II · Oedème angioneurotique héréditaire type II |
| de | Angioödem, hereditäres, Typ 2 | |
| es | Angioedema hereditario tipo 2 | AEH 2 · AEH-II · Edema angioneurótico hereditario tipo 2 |
| it | Angioedema ereditario, tipo 2 | Edema angioneurotico ereditario, tipo 2 · HAE 2 · HAE-II |
| nl | Erfelijk angio-oedeem type 2 | Erfelijk angioneurotisch oedeem type 2 · HAE 2 · HAE-II · Hereditair angio-oedeem type 2 |
| pt | Angioedema hereditário tipo 2 | Angioedema hereditário tipo II |
| pl | Dziedziczny obrzęk naczynioruchowy 2 | Dziedziczny obrzęk angioneurotyczny typu 2 · HAE 2 · HAE-II |
| cs | Hereditární angioedém, typ 2 | HAE 2 · HAE-II · Hereditární angioneurotický edém, typ 2 |
| uk | Спадковий ангіоневротичний набряк, тип 2 | САН 2 · САН-II · Спадковий ангіоневротичний набряк типу 2 |
| zh | 遗传性血管性水肿2型 | 遗传性血管神经性水肿2型 |
| tr | Kalıtsal anjiyoödem tip 2 | HAE 2 · HAE-II · Kalıtsal anjiyonörotik ödem tip 2 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106100 | NTBT | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.14 | NTBT | index | validated |
| MONDO | 0015054 | E | validated | |
| UMLS | C0398776 | 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 (1):
- ORPHA:528623Hereditary angioedema with C1Inh deficiency
rare genetic diseases; rare immunological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SERPING1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1228 | ENSG00000149131 | 606860 | 11q12.1 | serpin family G member 1 | 24456027[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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/100051
- This record as JSON: /data/d/100051.json