Type I hereditary angioedema

GPTKB entity

Statements (33)
Predicate Object
gptkbp:instanceOf gptkb:hereditary_hemorrhagic_telangiectasia
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
https://www.w3.org/2000/01/rdf-schema#label Type I hereditary angioedema
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