KEGG DISEASE: Hereditary angioedema

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 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-based classification of diseases [BR:br08402]
Immune system
  nt06514  Coagulation cascade
   H01006  Hereditary angioedema

Pathway

hsa04610

Complement and coagulation cascades

Network

nt06514 Coagulation cascade

Gene

(HAE1/2) SERPING1 [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]
Berotralstat hydrochloride [DR:D11674]
Danazol [DR:D00289]

Other DBs

ICD-11:

4A00.14

ICD-10:

D84.1

OMIM:

106100 610618 619360 619361 619363 619366 619367

Reference

PMID:14572810

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

PMID:15596403

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:17186468

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

PMID:33799813

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

PMID:28601681

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

PMID:33114181

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

PMID:34065094

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

» Japanese version

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Network (5)   
   KEGG NETWORK (1)   
   KEGG VARIANT (4)   
Disease (7)   
   OMIM (7)   
Drug (7)   
   KEGG DRUG (7)   
Gene (14)   
   KEGG ORTHOLOGY (7)   
   KEGG GENES (7)   
Literature (7)   
   PubMed (7)   
All databases (40)   

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