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GENATLAS PHENOTYPE
last update : 29-11-2017
Symbol HAE1
Location 11q12.1
Name angioedema, hereditary, types I & II
Other name(s) C1 esterase inhibitor deficiency
Corresponding gene SERPING1
Other symbol(s) HAE, C1NH
Main clinical features
  • episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts, periodic swelling attacks, which can be life threatening and have a major effect on a patients life
  • type I, representing 85% of patients, with serum levels of C1NH less than 35% of normal
  • type II, the levels are normal or elevated, but the protein is nonfunctional
  • the 2 types are clinically indistinguishable
    • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name complement component 1, inhibitor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown  
      deletion other  
    Remark(s) . deficiency of complement component 1 (C1) esterase inhibitor leads to overproduction of vasoactive kinins that cause angioedema (PMID: 22456031))