|
gptkbp:instanceOf
|
gptkb:disease
|
|
gptkbp:affects
|
complement system
|
|
gptkbp:alsoKnownAs
|
gptkb:hereditary_hemorrhagic_telangiectasia
|
|
gptkbp:associatedWith
|
bradykinin-mediated angioedema
complement C4 deficiency
|
|
gptkbp:cause
|
airway obstruction
abdominal pain
angioedema
recurrent swelling
|
|
gptkbp:causedBy
|
mutation in SERPING1 gene
|
|
gptkbp:complication
|
life-threatening airway swelling
|
|
gptkbp:diagnosedBy
|
low C1 inhibitor levels
low C4 levels
|
|
gptkbp:firstDescribed
|
1888
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
C1 inhibitor deficiency
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:notResponsiveTo
|
corticosteroids
epinephrine
antihistamines
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:subspecies
|
Type I
Type II
|
|
gptkbp:symptomsTriggeredBy
|
gptkb:trauma
stress
infection
hormonal changes
|
|
gptkbp:treatment
|
gptkb:C1_inhibitor_concentrate
gptkb:ecallantide
gptkb:icatibant
fresh frozen plasma
|
|
gptkbp:type
|
decreased C1 inhibitor production
|
|
gptkbp:Type_II
|
dysfunctional C1 inhibitor
|
|
gptkbp:bfsParent
|
gptkb:hereditary_hemorrhagic_telangiectasia
|
|
gptkbp:bfsLayer
|
6
|