Hereditary angioedema with C1Inh deficiency
Synonyms: HAE with C1 inhibitor deficiency · HAE with C1Inh deficiency · Hereditary angioneurotic edema with C1 inhibitor deficiency · Hereditary angioneurotic edema with C1Inh deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary angioedema with C1Inh deficiency | HAE with C1 inhibitor deficiency · HAE with C1Inh deficiency · Hereditary angioneurotic edema with C1 inhibitor deficiency · Hereditary angioneurotic edema with C1Inh deficiency |
| fr | Angio-oedème héréditaire avec déficit en C1Inh | Angio-oedème bradykinique héréditaire avec déficit en C1Inh · Angio-oedème bradykinique héréditaire avec déficit en inhibiteur de C1 · Angio-oedème héréditaire avec déficit en inhibiteur de C1 · HAE avec déficit en C1Inh · HAE avec déficit en inhibiteur de C1 · Oedème angioneurotique héréditaire avec déficit en C1Inh · Oedème angioneurotique héréditaire avec déficit en inhibiteur de C1 |
| de | Hereditäres Angioödem mit C1Inh-Mangel | HAE mit C1-Inhibitor-Mangel · HAE mit C1Inh-Mangel · Hereditäres angioneurotisches Ödem mit C1-Inhibitor-Mangel · Hereditäres angioneurotisches Ödem mit C1Inh-Mangel |
| es | Angioedema hereditario con deficiencia de C1Inh | AEH con deficiencia de C1Inh · AEH con deficiencia de inhibidor C1 · Edema angioneurótico hereditario con deficiencia de C1Inh · Edema angioneurótico hereditario con deficiencia de inhibidor C1 |
| it | Angioedema ereditario con deficit di C1Inh | Edema angioneurotico ereditario con deficit di C1 inibitore · Edema angioneurotico ereditario con deficit di C1Inh · HAE con deficit di C1 inibitore · HAE con deficit di C1Inh |
| nl | Erfelijk angio-oedeem met C1Inh-deficiëntie | Erfelijk angioneurotisch oedeem met C1-inhibitor-deficiëntie · Erfelijk angioneurotisch oedeem met C1Inh-deficiëntie · HAE met C1-inhibitor-deficiëntie · HAE met C1Inh-deficiëntie |
| pt | Angioedema hereditário com deficiência C1Inh | |
| pl | Dziedziczny obrzęk naczynioruchowy z niedoborem C1Inh | HAE z niedoborem C1Inh · HAE z niedoborem inhibitora C1 · Dziedziczny obrzęk angioneurotyczny z niedoborem C1Inh · Dziedziczny obrzęk angioneurotyczny z niedoborem inhibitora C1 |
| cs | Dědičný angioedém s deficitem C1Inh | HAE s deficitem C1Inh · HAE s deficitem inhibitoru C1 · Dědičný angioneurotický edém s deficitem C1Inh · Dědičný angioneurotický edém s deficitem inhibitoru C1 |
| uk | Спадковий ангіоневротичний набряк з дефіцитом C1Inh | HAE з дефіцитом С1-інгібітору · HAE з дефіцитом C1Inh · Спадковий ангіоневротичний набряк з дефіцитом С1-інгібітора · Спадковий ангіоневротичний набряк з дефіцитом C1Inh |
| zh | 遗传性血管性水肿伴C1Inh缺乏 | 遗传性血管神经性水肿伴C1抑制剂缺乏 |
| tr | C1Inh eksikliği ile seyreden kalıtsal anjiyoödem | C1Inh eksikliği ile seyreden HAE · C1 inhibitör eksikliği ile seyreden HAE · C1Inh eksikliği ile seyreden kalıtsal anjiyonörotik ödem · C1 inhibitörü eksikliği ile seyreden kalıtsal anjiyonörotik ödem |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619360 | BTNT | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.14 | NTBT | attributed | validated |
| MONDO | 0033946 | E | validated | |
| UMLS | C4552294 | E | validated | |
| MedDRA | 10080955 | 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 (2):
- ORPHA:91378Hereditary angioedema
rare genetic diseases; rare immunological diseases - ORPHA:250811Serpinopathy with loss of serpin function
rare genetic diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SERPING1 | ORPHA:100050Hereditary angioedema type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1228 | ENSG00000149131 | 606860 | 11q12.1 | serpin family G member 1 | 24456027[PMID] |
| SERPING1 | ORPHA:100051Hereditary angioedema type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1228 | ENSG00000149131 | 606860 | 11q12.1 | serpin family G member 1 | 24456027[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 51 cases | Worldwide | Case(s) | Validated | 28795768[PMID]_29548426[PMID]_29987869[PMID]_29952006[PMID]_33799813[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28795768[PMID]_29548426[PMID]_29987869[PMID]_29952006[PMID]_33799813[PMID]_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.
HPO phenotypes
24 annotations · validated 2024-06-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0100665 | Angioedema | |
| HP:0034204 | Decreased circulating C1-esterase inhibitor concentration | |
| HP:0045042 | Decreased circulating complement C4 concentration | |
| HP:0002014 | Diarrhea | |
| HP:6001012 | Erythema marginatum | |
| HP:0000282 | Facial edema | |
| HP:0031188 | Genital edema | |
| HP:0001386 | Joint swelling | |
| HP:0012027 | Laryngeal edema | |
| HP:0100748 | Muscular edema | |
| HP:0002017 | Nausea and vomiting | |
| HP:6000507 | Non-pitting edema | |
| HP:0012531 | Pain | |
| HP:0011855 | Pharyngeal edema | |
| HP:0025527 | Serpiginous cutaneous lesion | |
| HP:0000988 | Skin rash | |
| Occasional (29-5%) | ||
| HP:0025406 | Asthenia | |
| HP:0012378 | Fatigue | |
| HP:0002315 | Headache | |
| HP:0003401 | Paresthesia | |
| Very rare (<4-1%) | ||
| HP:0012271 | Episodic upper airway obstruction | |
| Excluded (0%) | ||
| HP:0000989 | Pruritus | |
| HP:0001025 | Urticaria | |
Annotation source: 29489144[PMID]_35442579[PMID]_27503784[PMID]_32187470[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/528623
- This record as JSON: /data/d/528623.json