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
Cardiovascular 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
Related
pathway
hsa04610  Complement and coagulation cascades
Gene
(HAE1/2) C1NH [HSA:710] [KO:K04001]
(HAE3) F12 [HSA:2161] [KO:K01328]
(HAE4) PLG [HSA:5340] [KO:K01315]
(HAE5) ANGPT1 [HSA:284] [KO:K05465]
(HAE6) KNG1 [HSA:3827] [KO:K03898]
(HAE7) MYOF [HSA:26509] [KO:K22125]
(HAE8) HS3ST6 [HSA:64711] [KO:K09679]
Drug
Icatibant acetate [DR:D04492]
Ecallantide [DR:D03931]
Conestat alfa [DR:D10845]
Lanadelumab [DR:D11094]
Danazol [DR:D00289]
Berotralstat hydrochloride [DR:D11674]
Other DBs
ICD-11: 4A00.14
ICD-10: D84.1
OMIM: 106100 610618 619360 619361 619363 619366 619367
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
  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
Reference
  Authors
Farkas H, Doczy A, Szabo E, Varga L, Csuka D
  Title
Screening for Plasminogen Mutations in Hereditary Angioedema Patients.
  Journal
Genes (Basel) 12:402 (2021)
DOI:10.3390/genes12030402
Reference
  Authors
Bafunno V, Firinu D, D'Apolito M, Cordisco G, Loffredo S, Leccese A, Bova M, Barca MP, Santacroce R, Cicardi M, Del Giacco S, Margaglione M
  Title
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema.
  Journal
J Allergy Clin Immunol 141:1009-1017 (2018)
DOI:10.1016/j.jaci.2017.05.020
Reference
  Authors
Loules G, Parsopoulou F, Zamanakou M, Csuka D, Bova M, Gonzalez-Quevedo T, Psarros F, Porebski G, Speletas M, Firinu D, Del Giacco S, Suffritti C, Makris M, Vatsiou S, Zanichelli A, Farkas H, Germenis AE
  Title
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
  Journal
J Clin Med 9:E3402 (2020)
DOI:10.3390/jcm9113402
Reference
  Authors
Santacroce R, D'Andrea G, Maffione AB, Margaglione M, d'Apolito M
  Title
The Genetics of Hereditary Angioedema: A Review.
  Journal
J Clin Med 10:2023 (2021)
DOI:10.3390/jcm10092023
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