Type II hereditary angioedema
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:hereditary_hemorrhagic_telangiectasia
rare disease |
| gptkbp:cause |
deficiency of C1 esterase inhibitor function
|
| gptkbp:differentialDiagnosis |
gptkb:Type_I_hereditary_angioedema
gptkb:acquired_angioedema allergic angioedema |
| gptkbp:firstDescribed |
1963
|
| gptkbp:hasBiomarker |
decreased C1-INH function
low C4 levels normal C1-INH antigenic levels |
| https://www.w3.org/2000/01/rdf-schema#label |
Type II hereditary angioedema
|
| gptkbp:ICD-10_code |
gptkb:D84.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
SERPING1
|
| gptkbp:OMIM |
106100
|
| gptkbp:prevalence |
1 in 50,000
|
| gptkbp:riskFactor |
life-threatening laryngeal edema
|
| gptkbp:symptom |
abdominal pain
airway swelling recurrent episodes of angioedema swelling of skin |
| gptkbp:treatment |
gptkb:androgens
gptkb:ecallantide gptkb:icatibant fresh frozen plasma C1-INH concentrate |
| gptkbp:bfsParent |
gptkb:C1_esterase_inhibitor
|
| gptkbp:bfsLayer |
8
|