KEGG   DISEASE: Hereditary angioedema
Entry
H01006                      Disease                                

Name
Hereditary angioedema
Description
Hereditary angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema is potentially lethal. The classic forms, HAE types I and II, result from deficiency of the plasma protease inhibitor, C1 inhibitor (C1INH). Type I HAE is caused by decreased expression of C1INH in the plasma whereas type 2 HAE, consisting approximately 15% of patients with HAE, is due to expression of a dysfunctional C1INH protein. HAE type III has been observed exclusively in women and appears to be correlated with high estrogen levels.
Category
Vascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H01006  Hereditary angioedema
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H01006  Hereditary angioedema
Pathway
hsa04610  Complement and coagulation cascades
Gene
(type I and II) C1NH [HSA:710] [KO:K04001]
(type III) F12; coagulation factor XII [HSA:2161] [KO:K01328]
Drug
Icatibant acetate [DR:D04492]
Ecallantide [DR:D03931]
Conestat alfa [DR:D10845]
Lanadelumab [DR:D11094]
Danazol [DR:D00289]
Other DBs
ICD-11: 4A00.14
ICD-10: D84.1
OMIM: 610618 106100
Reference
  Authors
Davis AE 3rd
  Title
The pathogenesis of hereditary angioedema.
  Journal
Transfus Apher Sci 29:195-203 (2003)
DOI:10.1016/j.transci.2003.08.012
Reference
  Authors
Davis AE 3rd
  Title
The pathophysiology of hereditary angioedema.
  Journal
Clin Immunol 114:3-9 (2005)
DOI:10.1016/j.clim.2004.05.007
Reference
PMID:21279474 (drug)
  Authors
Antoniu SA
  Title
Therapeutic approaches in hereditary angioedema.
  Journal
Clin Rev Allergy Immunol 41:114-22 (2011)
DOI:10.1007/s12016-011-8254-2
Reference
PMID:19160940 (drug)
  Authors
Reshef A, Leibovich I, Goren A
  Title
Hereditary angioedema: new hopes for an orphan disease.
  Journal
Isr Med Assoc J 10:850-5 (2008)
Reference
  Authors
Cichon S, Martin L, Hennies HC, Muller F, Van Driessche K, Karpushova A, Stevens W, Colombo R, Renne T, Drouet C, Bork K, Nothen MM
  Title
Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
  Journal
Am J Hum Genet 79:1098-104 (2006)
DOI:10.1086/509899
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