C1 esterase inhibitor deficiency
GPTKB entity
Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:acquired_form |
associated with autoimmune diseases
associated with lymphoproliferative disorders |
| gptkbp:affects |
gptkb:coagulation_system
gptkb:fibrinolytic_system complement system |
| gptkbp:alsoKnownAs |
gptkb:C1_inhibitor_deficiency
gptkb:hereditary_hemorrhagic_telangiectasia |
| gptkbp:cause |
airway obstruction
abdominal pain angioedema recurrent swelling |
| gptkbp:causedBy |
mutation in SERPING1 gene
|
| gptkbp:diagnosedBy |
C1 inhibitor level measurement
C4 complement level measurement |
| gptkbp:firstDescribed |
1888
|
| https://www.w3.org/2000/01/rdf-schema#label |
C1 esterase inhibitor deficiency
|
| gptkbp:ICD-10_code |
gptkb:D84.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D006388
|
| gptkbp:notResponsiveTo |
corticosteroids
epinephrine antihistamines |
| gptkbp:OMIM |
606860
|
| gptkbp:pathology |
increased vascular permeability
uncontrolled bradykinin production |
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
life-threatening airway compromise
|
| gptkbp:subspecies |
Type I
Type II acquired C1 inhibitor deficiency |
| gptkbp:symptom |
laryngeal edema
abdominal attacks non-itchy swelling |
| gptkbp:treatment |
gptkb:C1_inhibitor_concentrate
gptkb:ecallantide gptkb:icatibant gptkb:tranexamic_acid fresh frozen plasma danazol |
| gptkbp:triggeredBy |
gptkb:trauma
surgery stress infection estrogen |
| gptkbp:type |
low C1 inhibitor levels
|
| gptkbp:Type_II |
normal or elevated C1 inhibitor levels but dysfunctional protein
|
| gptkbp:bfsParent |
gptkb:hereditary_hemorrhagic_telangiectasia
|
| gptkbp:bfsLayer |
6
|