Hereditary angioedema with normal C1Inh
Synonyms: HAE with normal C1 inhibitor · HAE with normal C1Inh · Hereditary angioedema with normal C1 inhibitor · Hereditary angioneurotic edema with normal C1 inhibitor · Hereditary angioneurotic edema with normal C1Inh
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary angioedema with normal C1Inh | HAE with normal C1 inhibitor · HAE with normal C1Inh · Hereditary angioedema with normal C1 inhibitor · Hereditary angioneurotic edema with normal C1 inhibitor · Hereditary angioneurotic edema with normal C1Inh |
| fr | Angio-oedème héréditaire avec C1Inh normal | Angio-oedème bradykinique héréditaire avec C1Inh normal · Angio-oedème bradykinique héréditaire avec inhibiteur de C1 normal · Angio-oedème héréditaire avec inhibiteur de C1 normal · HAE avec C1Inh normal · HAE avec inhibiteur de C1 normal · Oedème angioneurotique héréditaire avec C1Inh normal · Oedème angioneurotique héréditaire avec inhibiteur de C1 normal |
| de | Hereditäres Angioödem mit normalem C1Inh | HAE mit normalem C1-Inhibitor · HAE mit normalem C1Inh · Hereditäres Angioödem mit normalem C1-Inhibitor · Hereditäres angioneurotisches Ödem mit normalem C1-Inhibitor · Hereditäres angioneurotisches Ödem mit normalem C1Inh |
| es | Angioedema hereditario con C1Inh normal | AEH con C1Inh normal · AEH con inhibidor C1 normal · Angioedema hereditario con inhibidor C1 normal · Edema angioneurótico hereditario con C1Inh normal · Edema angioneurótico hereditario con inhibidor C1 normal |
| it | Angioedema ereditario con C1Inh normale | Angioedema ereditario con C1 inibitore normale · Edema angioneurotico ereditario C1 inibitore normale · Edema angioneurotico ereditario con C1Inh normale · HAE con C1 inibitore normale · HAE con C1Inh normale |
| nl | Erfelijk angio-oedeem met normale C1Inh | HAE met normale C1-inhibitor · HAE met normale C1Inh · Erfelijk angio-oedeem met normale C1-inhibitor · Erfelijk angioneurotisch oedeem met normale C1-inhibitor · Erfelijk angioneurotisch oedeem met normale C1Inh |
| pt | Angioedema adquirido com C1Inh normal | |
| pl | Dziedziczny obrzęk naczynioruchowy z prawidłowym poziomem C1Inh | HAE z prawidłowym poziomem C1Inh · HAE z prawidłowym poziomem inhibitora C1 · Dziedziczny obrzęk naczynioruchowy z prawidłowym poziomem inhibitora C1 · Dziedziczny obrzęk angioneurotyczny z prawidłowym poziomem C1Inh · Dziedziczny obrzęk angioneurotyczny z prawidłowym poziomem inhibitora C1 |
| cs | Dědičný angioedém s normální koncentrací C1Inh | HAE s normální koncentrací C1Inh · HAE s normální koncentrací inhibitoru C1 · Dědičný angioedém s normální koncentrací inhibitoru C1 · Dědičný angioneurotický edém s normální koncentrací C1Inh · Dědičný angioneurotický edém s normální koncentrací inhibitoru C1 |
| uk | Спадковий ангіоневротичний набряк з нормальним C1Inh | САН з нормальним рівнем С1-інгібітору · САН з нормальним C1Inh · Спадковий ангіоневротичний набряк з нормальним рівнем інгібітору С1 · Спадковий ангіоневротичний набряк з нормальним рівнем інгібітору С1 · Спадковий ангіоневротичний набряк з нормальним C1Inh |
| zh | C1Inh正常的遗传性血管性水肿 | C1抑制剂正常的遗传性血管性水肿 |
| tr | Normal C1Inh ile seyreden kalıtsal anjiyoödem | Normal C1Inh ile seyreden HAE · Normal C1 inhibitör ile seyreden HAE · Normal C1 inhibitörü ile seyreden kalıtsal anjiyoödem · Normal C1Inh ile seyreden kalıtsal anjiyonörotik ödem · Normal C1 inhibitörü ile seyreden kalıtsal anjiyonörotik ödem |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | T78.3 | NTBT | attributed | validated |
| ICD-11 | 4A00.14 | NTBT | attributed | validated |
| MONDO | 0033947 | E | validated | |
| MONDO | 100567 | E | validated | |
| MONDO | 33947 | E | validated | |
| UMLS | C1960459 | E | validated | |
| MedDRA | 10080953 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:91378Hereditary angioedema
rare genetic diseases; rare immunological diseases
Genes
0 direct · 6 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
13 annotations · validated 2024-11-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100665 | Angioedema | |
| Frequent (79-30%) | ||
| HP:0010742 | Edema of the upper limbs | |
| HP:0000282 | Facial edema | |
| HP:0005225 | Intestinal edema | |
| HP:0012027 | Laryngeal edema | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001892 | Abnormal bleeding | |
| HP:0002099 | Asthma | |
| HP:0031188 | Genital edema | |
| HP:0040315 | Tongue edema | |
| Very rare (<4-1%) | ||
| HP:0012378 | Fatigue | |
| Excluded (0%) | ||
| HP:0045042 | Decreased circulating complement C4 concentration | |
| HP:0001025 | Urticaria | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 34343365[PMID]_28687110[PMID]_24565612[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/528647
- This record as JSON: /data/d/528647.json