Acquired angioedema with C1Inh deficiency
Synonyms: Acquired angioneurotic edema with C1 inhibitor deficiency · Acquired angioneurotic edema with C1Inh deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa, and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acquired angioedema with C1Inh deficiency | Acquired angioneurotic edema with C1 inhibitor deficiency · Acquired angioneurotic edema with C1Inh deficiency |
| fr | Angio-oedème acquis avec déficit en C1Inh | Angio-oedème acquis avec déficit en inhibiteur de C1 · Angio-oedème bradykinique acquis avec déficit en C1Inh · Angio-oedème bradykinique acquis avec déficit en inhibiteur de C1 · Oedème angioneurotique acquis avec déficit en C1Inh · Oedème angioneurotique acquis avec déficit en inhibiteur de C1 |
| de | Erworbenes Angioödem mit C1Inh-Mangel | Erworbenes angioneurotisches Ödem mit C1-Inhibitor-Mangel · Erworbenes angioneurotisches Ödem mit C1Inh-Mangel |
| es | Angioedema adquirido con deficiencia de C1Inh | Edema angioneurótico adquirido con deficiencia de C1Inh · Edema angioneurótico adquirido con deficiencia de inhibidor C1 |
| it | Angioedema acquisito con deficit di C1Inh | Edema angioneurotico acquisito con deficit di C1 inibitore · Edema angioneurotico acquisito con deficit di C1Inh |
| nl | Verworven angio-oedeem met C1Inh-deficiëntie | Verworven angioneurotisch oedeem met C1-inhibitor-deficiëntie · Verworven angioneurotisch oedeem met C1Inh-deficiëntie |
| pt | Angioedema adquirido com deficiência C1Inh | |
| pl | Nabyty obrzęk naczynioruchowy z niedoborem C1Inh | Nabyty obrzęk angioneurotyczny z niedoborem C1Inh · Nabyty obrzęk angioneurotyczny z niedoborem inhibitora C1 |
| cs | Získaný angioedém s deficitem C1Inh | Získaný angioneurotický edém s deficitem C1Inh · Získaný angioneurotický edém s deficitem inhibitoru C1 |
| uk | Набутий ангіоневротичний набряк з дефіцитом C1Inh | Набутий ангіоневротичний набряк з дефіцитом С1-інгібітора · Набутий ангіоневротичний набряк з дефіцитом C1Inh |
| zh | 获得性血管水肿伴C1Inh缺乏 | 获得性血管神经性水肿伴C1抑制剂缺乏 |
| tr | C1Inh eksikliği ile seyreden edinsel anjiyoödem | C1Inh eksikliği ile seyreden edinsel anjiyonörotik ödem · C1 inhibitör eksikliği ile seyreden edinsel anjiyonörotik ödem |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.15 | E | specific | validated |
| MONDO | 0033948 | E | validated | |
| UMLS | C5848086 | 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:91385Acquired angioedema
rare immunological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/528663
- This record as JSON: /data/d/528663.json