Hereditary angioedema type 3
General Information (adopted from Orphanet):
Synonyms, Signs: |
HAE III ESTROGEN-RELATED HAE ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION HAE-III HEREDITARY ANGIOEDEMA WITH NORMAL C1 INHIBITOR ACTIVITY HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION ESTROGEN-SENSITIVE HAE HAE3 HAE 3 Inherited estrogen-associated angioedema Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema Hereditary angioneurotic edema type 3 |
Number of Symptoms | 14 |
OrphanetNr: | 100054 |
OMIM Id: |
610618
|
ICD-10: |
D84.1 |
UMLs: |
C1857728 C1960459 |
MeSH: |
D056828 |
MedDRA: |
|
Snomed: |
427167008 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Hereditary angioedema
-Rare allergic disease -Rare genetic disease -Rare systemic or rheumatologic disease |
Symptom Information:
|
(HPO:0002013) | Vomiting | 191 / 7739 | ||||
|
(HPO:0005225) | Intestinal edema | 3 / 7739 | ||||
|
(HPO:0002574) | Episodic abdominal pain | 10 / 7739 | ||||
|
(HPO:0100665) | Angioedema | 14 / 7739 | ||||
|
(HPO:0012271) | Episodic upper airway obstruction | 1 / 7739 | ||||
|
(OMIM) | Vomiting, episodic | 3 / 7739 | ||||
|
(OMIM) | Facial swelling, episodic | 1 / 7739 | ||||
|
(OMIM) | Respiratory compromise due to swelling, episodic | 1 / 7739 | ||||
|
(OMIM) | Swelling of the hands and feet, episodic | 1 / 7739 | ||||
|
(OMIM) | Laryngeal swelling, episodic | 1 / 7739 | ||||
|
(OMIM) | Intestinal edema, episodic | 1 / 7739 | ||||
|
(OMIM) | Episodic, nonerythematous, nonpruritic, nontender edema, episodic | 1 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
(OMIM) | Throat swelling, episodic | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Hereditary angioedema type III is a rare disorder characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. HAE III occurs almost exclusively in women and is often precipitated or worsened by high ... |
Clinical Description OMIM |
Binkley and Davis (2000) reported a 3-generation Italian family with a unique type of hereditary angioedema that was estrogen-dependent. The episodes were clinically indistinguishable from types I and II, but occurred only during pregnancy or with the use ... |
Molecular genetics OMIM |
In affected members 4 German families with HAE III, 3 of which had previously been reported by Bork et al. (2000), Dewald and Bork (2006) identified a heterozygous missense mutation in the F12 (T309K; 610619.0006). Dewald and Bork ... |