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Hereditary angioedema

Disease ID:1218
Name:Hereditary angioedema
Associated with:0 target
2 immuno-relevant ligands
Synonyms
HAE
Description
Hereditary angioedema is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. Mutations in two genes underlie the sub-classification of HAE types I and II (heterozygous mutation in the C1 inhibitor gene) and HAE type III (mutation in the coagulation factor XII (F12) gene.
Database Links
Disease Ontology: DOID:14735
OMIM: 106100, 610618

Targets

No target related data available for Hereditary angioedema

Ligands

Key to terms and symbols Click ligand name to view ligand summary Click column headers to sort
Ligand References Clinical and Disease comments
icatibant
Immuno Disease Comments: Approved drug for HAE.
Clinical Use: Icatibant has been approved to treat hereditary angiodema (HAE). The drug is under investigation for other conditions susceptible to bradykinin amelioration eg ACE inhibitor-induced angiodema, knee ostoearthritis and use during cardiopulmonary bypass surgery. Click here to link to Clinicaltrials.gov's records for this drug.

COVID-19: Elevated levels of bradykinin have been detected in COVID-19 patients, and it is proposed that this 'bradykinin storm' might underlie many of the highly damaging symptoms of the infection [1,3,5]. By antagonising bradykinin signalling icatibant provides an exisitng therapeutic option to reduce the multi-system effects of bradykinin [6]. Direct destruction of ACE2 by SARS-CoV-2 binding likely participates in the loss of regulation of bradykinin levels, given ACE2's normal role in degrading vasodilatory des-Arg9-bradykinin [4]. | View clinical data
ecallantide
Immuno Disease Comments: Approved for HAE in adults and children >12 years of age.
Clinical Use: Ecallantide is used to treat adults who suffer attacks of hereditary angioedema (HAE, an immune system disorder) [2]. The drug acts to suppress the tissue swelling associated with hereditary angioedema. As of April 2014, children 12 years and older may be given this drug to treat HAE attacks. | View clinical data
Bioactivity Comments: We have been unable to find publicly available bioactivity data for this drug at its proposed molecular target to substantiate its MMOA, and have therefore not tagged a primary drug target. | View biological activity

References

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1. Anderson M. We are finally unravelling the mystery of what causes severe covid-19. Accessed on 22/09/2020. Modified on 22/09/2020. New Scientist, https://institutions.newscientist.com/article/2253987-we-are-finally-unravelling-the-mystery-of-what-causes-severe-covid-19/

2. Cicardi M, Levy RJ, McNeil DL, Li HH, Sheffer AL, Campion M, Horn PT, Pullman WE. (2010) Ecallantide for the treatment of acute attacks in hereditary angioedema. N Engl J Med, 363 (6): 523-31. [PMID:20818887]

3. Garvin MR, Alvarez C, Miller JI, Prates ET, Walker AM, Amos BK, Mast AE, Justice A, Aronow B, Jacobson D. (2020) A mechanistic model and therapeutic interventions for COVID-19 involving a RAS-mediated bradykinin storm. Elife, 9. DOI: 10.7554/eLife.59177 [PMID:32633718]

4. Robinson EL, Alkass K, Bergmann O, Maguire JJ, Roderick HL, Davenport AP. (2020) Genes encoding ACE2, TMPRSS2 and related proteins mediating SARS-CoV-2 viral entry are upregulated with age in human cardiomyocytes. J Mol Cell Cardiol, 147: 88-91. [PMID:32818486]

5. Roche JA, Roche R. (2020) A hypothesized role for dysregulated bradykinin signaling in COVID-19 respiratory complications. FASEB J, 34 (6): 7265-7269. [PMID:32359101]

6. van de Veerdonk FL, Kouijzer IJE, de Nooijer AH, van der Hoeven HG, Maas C, Netea MG, Br├╝ggemann RJM. (2020) Outcomes Associated With Use of a Kinin B2 Receptor Antagonist Among Patients With COVID-19. JAMA Netw Open, 3 (8): e2017708. [PMID:32789513]