ORPHA:100054
F12-related hereditary angioedema with normal C1Inh
Synonyms: F12-related HAE with normal C1 inhibitor · HAE 3 · HAE-III · Hereditary angioedema type 3 · Hereditary angioneurotic edema type 3 · Inherited estrogen-associated angioedema · Inherited estrogen-associated angioneurotic edema · Inherited estrogen-dependent angioedema · Inherited estrogen-dependent angioneurotic edema
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare hereditary angioedema characterized by normal serum levels and function of C1 inhibitor, normal C1 activity, and, clinically, recurrent subcutaneous edema, abdominal pain attacks, and episodes of potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women, and episodes are often precipitated or worsened by high estrogen levels (such as during pregnancy or treatment with oral contraceptives).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | F12-related hereditary angioedema with normal C1Inh | F12-related HAE with normal C1 inhibitor · HAE 3 · HAE-III · Hereditary angioedema type 3 · Hereditary angioneurotic edema type 3 · Inherited estrogen-associated angioedema · Inherited estrogen-associated angioneurotic edema · Inherited estrogen-dependent angioedema · Inherited estrogen-dependent angioneurotic edema |
| fr | Angio-oedème héréditaire avec C1Inh normal lié à F12 | Angio-oedème bradykinique héréditaire de type III · Angio-oedème héréditaire oestrogène-dépendant · Angio-oedème héréditaire sensible aux oestrogènes · Angio-oedème héréditaire type 3 · HAE 3 · HAE-III · Oedème angioneurotique héréditaire oestrogène-dépendant · Oedème angioneurotique héréditaire sensible aux oestrogènes · Oedème angioneurotique héréditaire type III |
| de | F12-assoziiertes hereditäres Angioödem mit normalem C1-INH | Angioneurotisches Ödem, hereditäres, Typ 3 · Angioödem, hereditäres, Typ 3 · F12-assoziiertes HAE mit normalem C1-Inhibitor · HAE 3 · HAE-III · Vererbtes Östrogen-abhängiges Angioneurotisches Ödem · Vererbtes Östrogen-assoziiertes Angioödem |
| es | Angioedema hereditario con C1Inh normal asociado a F12 | AEH 3 · AEH con C1Inh normal asociado a F12 · AEH-III · Angioedema hereditario asociado a estrógenos · Angioedema hereditario estrógeno dependiente · Angioedema hereditario tipo 3 · Edema angioneurótico hereditario asociado a estrógenos · Edema angioneurótico hereditario estrógeno dependiente · Edema angioneurótico hereditario tipo 3 |
| it | Angioedema ereditario, tipo 3 | Angioedema estrogeno-associato ereditario · Angioedema estrogeno-dipendente ereditario · Edema angioneurotico ereditario, tipo 3 · Edema angioneurotico estrogeno-associato ereditario · Edema angioneurotico estrogeno-dipendente ereditario · HAE 3 · HAE-III |
| nl | F12-gerelateerd erfelijk angio-oedeem met normale C1Inh | Erfelijk angio-oedeem type 3 · Erfelijk angioneurotisch oedeem type 3 · F12-gerelateerd HAE met normale C1-inhibitor · HAE 3 · HAE-III · Hereditair angio-oedeem type 3 · Overgeërfd oestrogeenafhankelijk angio-oedeem · Overgeërfd oestrogeenafhankelijk angioneurotisch oedeem · Overgeërfd oestrogeengeassocieerd angio-oedeem · Overgeërfd oestrogeengeassocieerd angioneurotisch oedeem |
| pt | Angioedema hereditário F12-relacionado com C1Inh normal | Angioedema hereditário tipo 3 · Edema angioneurótico hereditário tipo 3 · HAE 3 · HAE-III |
| pl | Dziedziczny obrzęk naczynioruchowy typu 3 | Dziedziczny obrzęk angioneurotyczny typu 3 · Dziedziczny obrzęk angioneurotyczny zależny od estrogenów · Dziedziczny obrzęk angioneurotyczny związany z estrogenami · Dziedziczny obrzęk naczynioruchowy zależny od estrogenów · Dziedziczny obrzęk naczynioruchowy związany z estrogenami · HAE 3 · HAE-III |
| cs | Hereditární angioedém, typ 3 | HAE 3 · HAE-III · Hereditární angioneurotický edém, typ 3 · Zděděný angioedém související s estrogenem · Zděděný angioneurotický edém související s estrogenem · Zděděný estrogen-dependentní angioedém · Zděděný estrogen-dependentní angioneurotický edém |
| uk | Спадковий ангіоневротичний набряк, повязаний з F12, з нормальним C1Inh | F12-асоційований САН з нормальним інгібітором С1 · САН 3 · САН-III · Спадковий ангіоневротичний набряк типу 3 · Спадковий ангіоневротичний набряк типу 3 · Спадковий естроген-асоційований ангіоневротичний набряк · Спадковий естроген-асоційований ангіоневротичний набряк · Спадковий естроген-залежний ангіоневротичний набряк · Спадковий естроген-залежний ангіоневротичний набряк |
| zh | C1Inh正常的F12相关遗传性血管性水肿 | 遗传性雌激素相关性血管神经性水肿 |
| tr | Normal C1Inh ile seyreden F12 -ilişkili kalıtsal anjiyoödem | HAE 3 · HAE-III · Kalıtsal anjiyoödem tip 3 · Kalıtsal anjiyonörotik ödem tip 3 · Kalıtsal östrojene bağlı anjiyoödem · Normal C1 inhibitörü ile F12-ilişkili HAE · Kalıtsal östrojenle ilişkili anjiyoödem · Kalıtsal östrojene bağlı anjiyonörotik ödem · Kalıtsal östrojen-ilişkili anjiyonörotik ödem |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610618 | E | validated | |
| ICD-10 | T78.3 | NTBT | attributed | validated |
| ICD-11 | 4A00.14 | NTBT | attributed | validated |
| MONDO | 0012526 | E | validated | |
| MeSH | D056828 | E | validated | |
| UMLS | C1857728 | 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:528647Hereditary angioedema with normal C1Inh
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 |
|---|---|---|---|---|---|---|---|---|
| F12 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3530 | ENSG00000131187 | 610619 | 5q35.3 | coagulation factor XII | 20384613[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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/100054
- This record as JSON: /data/d/100054.json