Hereditary angioedema

GPTKB entity

Statements (36)
Predicate Object
gptkbp:instanceOf genetic disorder
rare disease
gptkbp:canBeFatal yes
gptkbp:causedBy gptkb:C1_inhibitor_deficiency
gptkb:SERPING1_gene_mutation
gptkbp:complication asphyxiation
laryngeal edema
gptkbp:diagnosedBy genetic testing
C1 inhibitor function test
C4 complement level
gptkbp:firstDescribed 1888
gptkbp:frequency variable attacks
gptkbp:hasType Type I
Type II
Type III
https://www.w3.org/2000/01/rdf-schema#label Hereditary angioedema
gptkbp:ICD-10_code gptkb:D84.1
gptkbp:inheritance autosomal dominant
gptkbp:OMIM 106100
gptkbp:onset childhood or adolescence
gptkbp:prevalence 1 in 50,000
gptkbp:riskFactor family history
gptkbp:symptom airway obstruction
abdominal pain
recurrent swelling
gptkbp:treatment gptkb:androgens
gptkb:C1_inhibitor_concentrate
gptkb:ecallantide
gptkb:icatibant
gptkb:tranexamic_acid
gptkbp:triggeredBy gptkb:trauma
stress
infection
estrogen
gptkbp:bfsParent gptkb:HAE
gptkbp:bfsLayer 7