Type I hereditary angioedema
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:hereditary_hemorrhagic_telangiectasia
gptkb:rare_disease |
| gptkbp:cause |
deficiency of C1 esterase inhibitor
|
| gptkbp:diagnosedBy |
low C1-INH antigenic level
low C4 level |
| gptkbp:differentialDiagnosis |
gptkb:acquired_angioedema
allergic angioedema |
| gptkbp:firstDescribed |
1888
|
| gptkbp:gene |
SERPING1
|
| gptkbp:ICD-10_code |
gptkb:D84.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
gptkb:William_Osler
|
| gptkbp:OMIM |
106100
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
1 in 50,000
|
| gptkbp:riskFactor |
life-threatening airway obstruction
|
| gptkbp:symptom |
abdominal pain
laryngeal edema recurrent episodes of angioedema swelling of mucous membranes swelling of skin |
| gptkbp:treatment |
gptkb:ecallantide
gptkb:icatibant fresh frozen plasma C1-INH concentrate |
| gptkbp:triggeredBy |
gptkb:trauma
stress infection dental procedures |
| gptkbp:bfsParent |
gptkb:C1_esterase_inhibitor
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Type I hereditary angioedema
|