HAE
MCID: HRD002
MIFTS: 56

Hereditary Angioedema (HAE) malady

Genetic diseases, Rare diseases, Skin diseases, Bone diseases, Immune diseases categories
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Summaries for Hereditary Angioedema

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Hereditary angioedema (hae) is an immune disorder characterized by recurrent episodes of severe swelling. the most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. hae is caused by low levels or improper function of a protein called c1 inhibitor which affects the blood vessels. this condition is inherited in an autosomal dominant pattern.there are three types of hae, types i, ii, and iii. the types can be distinguished by their underlying causes and levels of c1 inhibitor in the blood. type i and ii are caused by mutations in the serping1 gene. some cases of type iii are associated with mutations in the f12 gene. other genes are likely to be identified as the cause of other cases of hae type iii. last updated: 5/25/2011

MalaCards: Hereditary Angioedema, also known as hereditary angioneurotic edema, is related to angioedema and c1 inhibitor deficiency. An important gene associated with Hereditary Angioedema is SERPING1 (serpin peptidase inhibitor, clade G (C1 inhibitor), member 1), and among its related pathways are Cell adhesion Plasmin signaling and Response to elevated platelet cytosolic Ca2+. The compounds bradykinin and prostacyclin have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and testes.

Genetics Home Reference:21 Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.

Wikipedia:65 Hereditary angioedema (types I, II and III) (also known as \"HAE\") is a rare, autosomal dominantly... more...

Description from OMIM:47 106100,610618

Aliases & Classifications for Hereditary Angioedema

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21Genetics Home Reference, 8Disease Ontology, 43NIH Rare Diseases, 22GTR, 20GeneTests, 45Novoseek, 62UMLS, 40NCIt, 58SNOMED-CT, 35MeSH, 47OMIM
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Classifications:



Aliases & Descriptions:

hereditary angioedema 8 43 21
hereditary angioneurotic edema 8 43 22 21
angioedema, hereditary 43 20 45
hane 8 43 21
deficiency of c1 esterase inhibitor 43 62
hae 43 21
c1 esterase inhibitor deficiency 21
hereditary angioedema type 1 43
c1 inhibitor deficiency 21
angioedemas, hereditary 62


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Disease Ontology8 DOID:14735
NCIt40 C84758
SNOMED-CT58 82966003
MeSH35 D054179

Related Diseases for Hereditary Angioedema

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17GeneCards, 18GeneDecks
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Diseases in the Angioedema, Hereditary, Types I and Ii family:

hereditary angioedema Angioedema
Acquired Angioedema Hereditary Angioedema Type Iii
Acquired Angioedema Type 1 Acquired Angioedema Type 2

Diseases related to Hereditary Angioedema via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1angioedema32.0SERPING1, F12, C1S, KNG1
2c1 inhibitor deficiency31.0F12, SERPING1, KNG1
3acute pancreatitis30.4C1S, PRSS2
4pancreatitis30.3C1S, PRSS2, KNG1
5urticaria30.2KNG1, SERPING1, F12, C1S
6hereditary angioedema type iii10.6
7laryngitis10.6
8vasculitis10.5
9angioedema, hereditary, types i and ii10.4
10lupus erythematosus10.4
11splenic marginal zone lymphoma10.4
12myelofibrosis10.4
13angioimmunoblastic t-cell lymphoma10.4
14acquired angioedema10.3
15hereditary lymphedema10.3
16hereditary coproporphyria10.3
17lymphedema10.3
18spondylarthropathy10.3
19celiac disease10.2
20systemic lupus erythematosus10.2
21arthritis10.2
22atherosclerosis10.2
23blindness10.2
24endotheliitis10.2
25crohn's disease10.2
26melkersson-rosenthal syndrome10.2
27antiphospholipid syndrome10.2
28lymphosarcoma10.2
29sjogren's syndrome10.2
30hodgkin's lymphoma10.2
31neuropathy10.2
32rheumatoid arthritis10.2
33angioedema induced by ace inhibitors10.2
34frasier syndrome10.1
35evans' syndrome10.1
36periarthritis10.1
37epiglottitis10.1
38aortitis10.1
39allergic urticaria10.1
40cutaneous lupus erythematosus10.1
41adult respiratory distress syndrome10.1
42cerebritis10.1
43hypoparathyroidism10.1
44psoriatic arthritis10.1
45fabry disease10.1
46acute laryngitis10.1
47breast cancer10.1
48food allergy10.1
49glomerulonephritis10.1
50hepatocellular carcinoma10.1

Graphical network of the top 20 diseases related to Hereditary Angioedema:



Diseases related to hereditary angioedema

Symptoms for Hereditary Angioedema

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47OMIM
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Clinical features from OMIM:

106100,610618

Drugs & Therapeutics for Hereditary Angioedema

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hereditary Angioedema

Search NIH Clinical Center for Hereditary Angioedema

Genetic Tests for Hereditary Angioedema

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20GeneTests, 22GTR
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Genetic tests related to Hereditary Angioedema:

id Genetic test Affiliating Genes
1 Hereditary Angioedema20 SERPING1
2 Hereditary Angioneurotic Edema22

Anatomical Context for Hereditary Angioedema

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33MalaCards
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MalaCards organs/tissues related to Hereditary Angioedema:

33
Skin, Colon, Testes, Endothelial, Lung, Heart, Liver, Breast, Myeloid, B cells

Animal Models for Hereditary Angioedema or affiliated genes

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Publications for Hereditary Angioedema

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52PubMed
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Articles related to Hereditary Angioedema:

(show top 50)    (show all 522)
idTitleAuthorsYear
1
Depression and anxiety in patients with hereditary angioedema. (24428960)
2013
2
Hereditary angioedema: epidemiology, management, and role of icatibant. (23662043)
2013
3
The burden of illness in patients with hereditary angioedema. (24125136)
2013
4
Recent advances in hereditary angioedema self-administration treatment: summary of an International Hereditary Angioedema Expert Meeting. (23689237)
2013
5
Management of hereditary angioedema in 2012: scientific and pharmacoeconomic perspectives. (23352523)
2013
6
Anaesthesia Management of a Patient with Hereditary Angioedema with Prophylactic Administration of C1 Esterase Inhibitor: Case report and literature review. (23984039)
2013
7
Hereditary angioedema: not an allergy. (23248378)
2012
8
Prospective, double-blind, placebo-controlled trials of ecallantide for acute attacks of hereditary angioedema. (22149337)
2012
9
Hereditary angioedema: short-term prophylaxis for surgery. (22856630)
2012
10
Efficacy assessments in randomized controlled studies of acute therapy for hereditary angioedema. (22797816)
2012
11
Type III hereditary angioedema: defined, but not understood. (22920066)
2012
12
Successful C1 esterase inhibitor therapy in a child with a novel type 3 hereditary angioedema-like syndrome. (22626603)
2012
13
Hereditary angioedema: a survey of UK emergency departments and recommendations for management. (22008588)
2012
14
Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema. (22994404)
2012
15
Hereditary angioedema: an instructive model of clinical description, molecular discovery, and development of new effective treatments. (22195754)
2011
16
In brief: icatibant (Firazyr) for hereditary angioedema. (22113125)
2011
17
Update on preventive therapy (prophylaxis) of hereditary angioedema. (21262094)
2011
18
Evidence of impaired sense of smell in hereditary angioedema. (20649895)
2011
19
Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency. (21760740)
2011
20
Current medical management of hereditary angioedema: results from a large survey of US physicians. (21457880)
2011
21
Hereditary angioedema therapy: kallikrein inhibition and bradykinin receptor antagonism. (23282868)
2010
22
Summary and Conclusions: New Perspectives in Hereditary Angioedema: Molecular Mechanisms and Therapeutic Choices: A CME Symposium Presented at the World Allergy Congress, Buenos Aires, Argentina (December 2009). (23282869)
2010
23
Response time for ecallantide treatment of acute hereditary angioedema attacks. (21130380)
2010
24
Hereditary angioedema: three cases report, members of the same family. (24421965)
2010
25
Upper airway considerations in hereditary angioedema. (19949324)
2010
26
Delayed diagnosis of hereditary angioedema. (20531165)
2010
27
Pathogenesis and laboratory diagnosis of hereditary angioedema. (19843402)
2009
28
Icatibant for hereditary angioedema. (20135020)
2009
29
Hereditary angioedema and pregnancy. (19281571)
2009
30
Hereditary angioedema with normal c1 inhibition. (19656474)
2009
31
Acute edema blisters in a hereditary angioedema cutaneous attack. (18680708)
2008
32
Benefits and risks of danazol in hereditary angioedema: a long-term survey of 118 patients. (18320917)
2008
33
Treatment of hereditary angioedema with plasma-derived C1 inhibitor. (19209279)
2008
34
Hereditary angioedema: new hopes for an orphan disease. (19160940)
2008
35
Hereditary angiodema: a current state-of-the-art review, IV: short- and long-term treatment of hereditary angioedema: out with the old and in with the new? (18220147)
2008
36
Hereditary angioedema associated with heterozygous factor V Leiden mutation in a patient with Purpura fulminans. (17068406)
2007
37
Anti-cholesterol antibody levels in hereditary angioedema. (18205707)
2007
38
Secondary systemic lupus erythematosus: an analysis of 4 cases of uncontrolled hereditary angioedema. (17098477)
2007
39
Effective treatment of hereditary angioedema with fresh frozen plasma in an emergency department. (17692764)
2007
40
Established and new treatments for hereditary angioedema: An update. (17768103)
2007
41
Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema. (16617246)
2006
42
Current and future therapy for hereditary angioedema. (15596404)
2005
43
Use of recombinant plasma kallikrein inhibitor in hereditary angioedema: a case report and review of the management of the disorder. (15573358)
2004
44
Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema]. (14714307)
2003
45
Increased expression of C1-inhibitor mRNA in patients with hereditary angioedema treated with Danazol. (12706530)
2003
46
Intravenous heparin did not prevent exacerbations of hereditary angioedema in a patient on maintenance hemodialysis. (12743585)
2003
47
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. (11139243)
2001
48
Association of hereditary angioedema and hereditary breast cancer. (9169034)
1997
49
Hereditary angioedema. Description of a pediatric case]. (1791801)
1991
50
Allergic urticaria and hereditary angioedema. Independent association in the same patient. (6509770)
1984

Variations for Hereditary Angioedema

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hereditary Angioedema:

1
id Gene Name Type Significance SNP ID Assembly Location
1SERPING1NM_000062.2(SERPING1): c.597C> G (p.Tyr199Ter)single nucleotide variantPathogenicrs121907951GRCh37Chr 11, 57369554: 57369554

Expression for genes affiliated with Hereditary Angioedema

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Angioedema

Search GEO for disease gene expression data for Hereditary Angioedema.

Pathways for genes affiliated with Hereditary Angioedema

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50PathCards, 60Thomson Reuters, 55Reactome, 30KEGG, 53QIAGEN, 57SinoBiological, 38NCBI BioSystems Database, 54R&D Systems
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Pathways related to Hereditary Angioedema according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5F12, SERPING1
2
Show member pathways
9.5KNG1, SERPING1
39.4SERPING1, C1S
4
Show member pathways
Immune response Alternative complement pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
9.4SERPING1, C1S
5
Show member pathways
9.0F12, KNG1, SERPING1
6
Show member pathways
9.0KNG1, SERPING1, F12
7
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
8.4SERPING1, KNG1, F12, C1S

Compounds for genes affiliated with Hereditary Angioedema

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61Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 11DrugBank, 51PharmGKB
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Compounds related to Hereditary Angioedema according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1bradykinin61 29 2411.5KNG1, F12
2prostacyclin459.3KNG1, C1S
3danazol45 24 1111.3SERPING1, C1S
4aprotinin45 1110.0KNG1, C1S
5kininogen459.0KNG1, F12, C1S
6aspirin45 51 29 2411.8C1S, F12, KNG1
7heparin45 29 24 1111.5C1S, F12, SERPING1, KNG1
8serine457.7C1S, F12, SERPING1, PRSS2, KNG1

GO Terms for genes affiliated with Hereditary Angioedema

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16Gene Ontology
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Cellular components related to Hereditary Angioedema according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.2KNG1, SERPING1
2blood microparticleGO:0725628.8SERPING1, KNG1, C1S
3extracellular spaceGO:0056158.7F12, PRSS2, SERPING1
4extracellular regionGO:0055767.5KNG1, PRSS2, SERPING1, F12, C1S

Biological processes related to Hereditary Angioedema according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibrinolysisGO:0427309.6SERPING1, F12
2platelet activationGO:0301689.5KNG1, SERPING1
3complement activation, classical pathwayGO:0069589.3C1S, SERPING1
4platelet degranulationGO:0025769.2SERPING1, KNG1
5blood coagulation, intrinsic pathwayGO:0075979.1F12, SERPING1, KNG1
6blood coagulationGO:0075969.0F12, KNG1, SERPING1
7innate immune responseGO:0450878.2F12, SERPING1, PRSS2, C1S

Molecular functions related to Hereditary Angioedema according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042528.2PRSS2, F12, C1S
2protein bindingGO:0055157.5KNG1, PRSS2, SERPING1, F12, C1S

Products for genes affiliated with Hereditary Angioedema

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Sources for Hereditary Angioedema

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet