HAE
MCID: HRD002
MIFTS: 59

Hereditary Angioedema (HAE) malady

Summaries for Hereditary Angioedema

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 Pertussis and Cell adhesion Plasmin signaling. The compounds fr173657 and fr190997 have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and endothelial, and related mouse phenotypes are homeostasis/metabolism and cardiovascular system.

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

Description from OMIM:46 106100,610618

Aliases & Classifications for Hereditary Angioedema

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44Novoseek, 60UMLS, 39NCIt, 46OMIM, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

hereditary angioedema 8 42 21
hereditary angioneurotic edema 8 22 21
angioedema, hereditary 42 20 44
hane 8 42 21
deficiency of c1 esterase inhibitor 42 60
hae 42 21
c1 esterase inhibitor deficiency 21
hereditary angioedema type 1 42
c1 inhibitor deficiency 21
angioedemas, hereditary 60


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Disease Ontology8 DOID:14735
NCIt39 C84758
SNOMED-CT56 82966003
MeSH34 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 Hereditary Angioedema Type Iii

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

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1angioedema32.0SERPING1, PFDN4, F12, KNG1, BDKRB2, C1S
2c1 inhibitor deficiency30.9KNG1, F12, MASP2, SERPING1, KRTAP10-9
3vasculitis30.7C1S, SELE
4lupus erythematosus30.4C1S
5acute pancreatitis30.4PRSS2, C1S
6pancreatitis30.4PRSS2, KNG1, C1S
7arthritis30.2KNG1, PLG, SELE
8urticaria30.2C1S, XPNPEP2, KNG1, F12, SELE, SERPING1
9systemic lupus erythematosus30.2C1S, C4B, PON1, SELE
10atherosclerosis30.2LCAT, KNG1, PON1, CDH5, PLG, SELE
11antiphospholipid syndrome30.2SELE, PON1
12complement deficiency30.0C1S
13glomerulonephritis30.0PON1, KNG1
14hypertension30.0SELE, PLG, KNG1, KLK1
15food allergy30.0CETP, C1S
16lung cancer30.0C1S, BDKRB2, KNG1, PON1, PLG
17ischemia30.0C1S, BDKRB2, KNG1, PON1, PLG, SELE
18laryngitis10.5
19t cell deficiency10.5
20hereditary angioedema type iii10.4
21angioedema, hereditary, types i and ii10.4
22splenic marginal zone lymphoma10.3
23myelofibrosis10.3
24hereditary lymphedema10.2
25hereditary coproporphyria10.2
26lymphedema10.2
27celiac disease10.2
28crohn's disease10.1
29melkersson-rosenthal syndrome10.1
30sjogren's syndrome10.1
31lymphosarcoma10.1
32hodgkin's lymphoma10.1
33intestinal disease10.1
34neuropathy10.1
35angioedema induced by ace inhibitors10.1
36frasier syndrome10.0
37periarthritis10.0
38evans' syndrome10.0
39cutaneous lupus erythematosus10.0
40adult respiratory distress syndrome10.0
41cerebritis10.0
42hypoparathyroidism10.0
43psoriatic arthritis10.0
44aortitis10.0
45epiglottitis10.0
46allergic urticaria10.0
47adult syndrome10.0
48fabry disease10.0
49acute laryngitis10.0
50b cell deficiency10.0

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



Diseases related to hereditary angioedema

Clinical Features for Hereditary Angioedema

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46OMIM
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Clinical features from OMIM:

106100,610618

Drugs & Therapeutics for Hereditary Angioedema

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Angioedema

Drug clinical trials:

Search ClinicalTrials for Hereditary Angioedema

Search NIH Clinical Center for Hereditary Angioedema

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Hereditary Angioedema:

32
Colon, Testes, Endothelial, Heart, Liver, Lung, Breast, Myeloid, B cells

Animal Models for Hereditary Angioedema or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hereditary Angioedema:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9LCAT, C4B, KNG1, F12, PON1, MASP2
2MP:00053857.5SERPING1, BDKRB2, LCAT, C4B, PON1, MASP2

Publications for Hereditary Angioedema

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50PubMed
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Articles related to Hereditary Angioedema:

(show top 50)    (show all 550)
idTitleAuthorsYear
1
Feasibility of home infusion and self-administration of nanofiltered c1 esterase inhibitor for routine prophylaxis in patients with hereditary angioedema and characterization of a training and support program. (24384882)
2014
2
Review of recent guidelines and consensus statements on hereditary angioedema therapy with focus on self-administration. (23689238)
2013
3
A rare cause of recurrent abdominal pain: three familial cases with hereditary angioedema. (23254741)
2013
4
Recent advances in the management of hereditary angioedema. (23843378)
2013
5
Overview of epidemiology, pathophysiology, and disease progression in hereditary angioedema. (23844782)
2013
6
Population pharmacokinetics of recombinant human C1 inhibitor in patients with hereditary angioedema. (23594263)
2013
7
Icatibant for the treatment of hereditary angioedema. (23249729)
2013
8
Type III hereditary angioedema: defined, but not understood. (22920066)
2012
9
The hereditary angioedema burden of illness study in Europe (HAE-BOIS-Europe): background and methodology. (22536794)
2012
10
The first probable case of hereditary angioedema in Vietnam. (22548211)
2012
11
Fresh frozen plasma for the treatment of hereditary angioedema acute attacks. (22770407)
2012
12
Life with hereditary angioedema: then and now. (22314124)
2012
13
Current options for prophylactic treatment of hereditary angioedema in the United States: patient-based considerations. (22584192)
2012
14
Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency. (22841766)
2012
15
Content validity of visual analog scales to assess symptom severity of acute angioedema attacks in adults with hereditary angioedema: an interview study. (22462765)
2012
16
In brief: icatibant (Firazyr) for hereditary angioedema. (22113125)
2011
17
Current medical management of hereditary angioedema: results from a large survey of US physicians. (21457880)
2011
18
Hereditary angioedema: diagnosis and management-a perspective for the dermatologist. (21550133)
2011
19
An uncommon cause of acute pancreatitis. Hereditary angioedema-induced acute pancreatitis. (21110969)
2011
20
Successful long-term treatment with the bradykinin B2 receptor antagonist icatibant in a patient with hereditary angioedema. (21950301)
2011
21
Nanofiltered human C1 inhibitor concentrate (CinryzeAr): in hereditary angioedema. (21942916)
2011
22
Meeting the challenges and burdens associated with hereditary angioedema. (21991862)
2011
23
Long-term efficacy of danazol treatment in hereditary angioedema. (20955212)
2011
24
Update on laboratory tests for the diagnosis and differentiation of hereditary angioedema and acquired angioedema. (22195757)
2011
25
Response time for ecallantide treatment of acute hereditary angioedema attacks. (21130380)
2010
26
An overview of novel therapies for acute hereditary angioedema. (20866113)
2010
27
Ecallantide for the treatment of acute attacks in hereditary angioedema. (20818887)
2010
28
Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor. (20667118)
2010
29
Three new drugs for hereditary angioedema. (20724964)
2010
30
Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema. (19752569)
2010
31
Hereditary angioedema: New therapeutic options for a potentially deadly disorder. (20470390)
2010
32
Economic costs associated with acute attacks and long-term management of hereditary angioedema. (20408341)
2010
33
Treatment of hereditary angioedema in women. (19269625)
2009
34
Benefits and risks of danazol in hereditary angioedema: a long-term survey of 118 patients. (18320917)
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
Functional C1-inhibitor diagnostics in hereditary angioedema: assay evaluation and recommendations. (18655790)
2008
37
New therapies for hereditary angioedema: disease outlook changes dramatically. (18206518)
2008
38
Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. (17186468)
2006
39
Hereditary angioedema in a martial arts family. (16003044)
2005
40
Hereditary angioedema involving the colon: endoscopic appearance and review of GI manifestations. (15933700)
2005
41
Laboratory diagnostics for hereditary angioedema: an economic, evidence-based standpoint. (15806017)
2005
42
The pathophysiology of hereditary angioedema. (15596403)
2005
43
Erythema marginatum and hereditary angioedema. (15558919)
2004
44
A case of lung cancer with hereditary angioedema treated effectively by chemo-radiotherapy with C1 esterase inhibitor concentrate and danazol]. (15168463)
2004
45
Canadian 2003 International Consensus Algorithm For the Diagnosis, Therapy, and Management of Hereditary Angioedema. (15356569)
2004
46
Safety and efficacy of pasteurized C1 inhibitor concentrate (Berinert P) in hereditary angioedema: a review. jean.de.serres@aventis.com. (14572817)
2003
47
Long-term follow-up of non-systemic lupus erythematosus glomerulonephritis in patients with hereditary angioedema: report of four cases. (1595700)
1992
48
Long-term prophylaxis with C1-inhibitor (C1 INH) concentrate in patients with recurrent angioedema caused by hereditary and acquired C1-inhibitor deficiency. (2926086)
1989
49
Hereditary angioedema associated with subacute cutaneous lupus erythematosus. (2620753)
1989
50
Haemostasis contact system and fibrinolysis in hereditary angioedema (C1-inhibitor deficiency). (3146615)
1988

Genetic Variations for Hereditary Angioedema

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Expression for genes affiliated with Hereditary Angioedema

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Angioedema

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Pathways for genes affiliated with Hereditary Angioedema

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29KEGG, 12EMD Millipore, 53Reactome, 51QIAGEN, 55SinoBiological, 37NCBI BioSystems Database, 52R&D Systems
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Compounds for genes affiliated with Hereditary Angioedema

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44Novoseek, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Hereditary Angioedema according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1fr17365744 2811.5KNG1, BDKRB2
2fr19099744 2811.5KNG1, BDKRB2
3cereport4410.5BDKRB2, KNG1
4hoe 1405910.5BDKRB2, KNG1
5r 7155910.5BDKRB2, KNG1
6win 64338 hydrochloride5910.5KNG1, BDKRB2
7quinaprilat4410.5BDKRB2, KNG1
8lys-[des-arg9]bradykinin5910.5KNG1, BDKRB2
9ramiprilat4410.4BDKRB2, KNG1
10des-arg(10)-kallidin4410.4KNG1, BDKRB2
11captopril44 28 49 59 1114.4BDKRB2, KNG1
12icatibant44 28 1112.4BDKRB2, KNG1
13bradykinin59 28 2412.3KNG1, BDKRB2, F12
14aprotinin44 1111.3KLK1, C1S, BDKRB2
15kallidin44 2811.3KNG1, BDKRB2
16anthranilate4410.2KLK1, KNG1
17torcetrapib4410.2LCAT, CETP
18cholesteryl linoleate4410.2LCAT, CETP
19psyllium4410.2LCAT, CETP
20aaph4410.2PON1, LCAT
21diisopropylfluorophosphate4410.1PON1, LCAT, KNG1
22enalaprilat4410.1KNG1, BDKRB2
23tranexamic acid44 1111.0C1S, PLG
24p-opc4410.0CETP, LCAT
25cholesterol ester449.9PON1, CETP, LCAT
26probucol44 1110.9LCAT, CETP, SELE
27losartan44 49 28 1112.9BDKRB2, KNG1, SELE
28sele449.9CETP, PON1, SELE
29dextran sulfate449.9KNG1, SELE, CETP
30phosphatidylcholine449.8LCAT, CETP, PON1
31quinapril44 1110.8SELE, KNG1
32fenofibrate44 49 1111.7CETP, SELE, PON1
33kininogen449.7PLG, F12, C1S, KNG1, BDKRB2, KLK1
34fluvastatin44 49 28 1112.7PON1, CETP, SELE
35carbohydrates449.6CETP, SELE, MASP2, C4B
36pravastatin44 49 28 11 2413.6CETP, PON1, LCAT, SELE
37atorvastatin44 49 28 11 2413.6SELE, LCAT, PON1, CETP
38isoproterenol44 1110.5CETP, CDH5, SELE, KNG1, BDKRB2
39simvastatin44 49 59 28 11 2414.5PON1, SELE, CETP, LCAT
40vitamin a44 11 2411.4SELE, LCAT, PON1, CETP
41aspirin44 49 28 2412.3F12, CETP, SELE, PON1, KNG1, C1S
42nitric oxide44 11 2411.2SELE, KNG1, C1S, BDKRB2, PLG, CDH5
43arginine449.2KNG1, C1S, KLK1, PON1, CDH5, CETP
44histamine44 28 2411.2SELE, CDH5, BDKRB2, KNG1
45fibrinogen449.1SELE, PLG, CDH5, MASP2, PON1, F12
46alanine448.9SERPING1, SELE, BDKRB2, PON1, MASP2, CETP
47cysteine448.9PRSS2, LCAT, CETP, PLG, PON1, BDKRB2
48lipid448.6PON1, CDH5, PLG, SELE, BDKRB2, LCAT
49serine448.4BDKRB2, CETP, SERPING1, SELE, PLG, MASP2
50heparin44 28 11 2411.4LCAT, C1S, CETP, SERPING1, SELE, PLG

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:0310939.8SERPING1, PLG, KNG1
2high-density lipoprotein particleGO:0343649.2LCAT, PON1, CETP
3extracellular spaceGO:0056157.8F12, KNG1, C4B, LCAT, PRSS2, PON1
4extracellular regionGO:0055767.3CETP, C1S, LCAT, C4B, KNG1, F12

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of fibrinolysisGO:05191910.3PLG, F12
2blood coagulation, intrinsic pathwayGO:00759710.2KNG1, F12, SERPING1
3fibrinolysisGO:04273010.1F12, PLG, SERPING1
4vasodilationGO:04231110.1KNG1, BDKRB2
5very-low-density lipoprotein particle remodelingGO:03437210.1LCAT, CETP
6complement activationGO:00695610.0MASP2, C4B, C1S
7phosphatidylcholine metabolic processGO:04647010.0CETP, PON1
8complement activation, classical pathwayGO:00695810.0SERPING1, MASP2, C4B, C1S
9platelet degranulationGO:0025769.9KNG1, PLG, SERPING1
10high-density lipoprotein particle remodelingGO:0343759.8LCAT, CETP
11cholesterol transportGO:0303019.7LCAT, CETP
12cholesterol metabolic processGO:0082039.7LCAT, PON1, CETP
13inflammatory responseGO:0069549.6SELE, KNG1, C4B, BDKRB2
14reverse cholesterol transportGO:0436919.5CETP, LCAT
15proteolysisGO:0065089.5C1S, KLK1, XPNPEP2, F12, PRSS2, MASP2
16innate immune responseGO:0450879.5C1S, C4B, F12, PRSS2, MASP2, SERPING1
17blood coagulationGO:0075969.5SERPING1, SELE, PLG, F12, KNG1

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055099.2CDH5, MASP2, PON1, PRSS2, C1S
2serine-type endopeptidase activityGO:0042529.0PLG, MASP2, PRSS2, F12, KLK1, C1S
3protein bindingGO:0055157.0F12, KNG1, LCAT, BDKRB2, C1S, PRSS2

Products for genes affiliated with Hereditary Angioedema

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  • Antibodies
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Sources for Hereditary Angioedema

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet