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 cereport and fr173657 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
A UK national audit of hereditary and acquired angioedema. (23786259)
2014
2
The role of ficolins and MASPs in hereditary angioedema due to C1-inhibitor deficiency. (23318225)
2013
3
Management of hereditary angioedema in 2012: scientific and pharmacoeconomic perspectives. (23352523)
2013
4
HAE update: special considerations in the female patient with hereditary angioedema. (23406930)
2013
5
Disease-modifying factors in hereditary angioedema: an RNA expression-based screening. (23688356)
2013
6
Management of hereditary angioedema with C1-inhibitor concentrate during two successive pregnancies. (23182795)
2013
7
Effect of time to treatment on response to C1 esterase inhibitor concentrate for hereditary angioedema attacks. (23987198)
2013
8
Overview of hereditary angioedema caused by C1-inhibitor deficiency: assessment and clinical management. (23678554)
2013
9
A focused parameter update: hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor-associated angioedema. (23726531)
2013
10
Hereditary Angioedema - Consequences of a New Treatment Paradigm in Denmark. (24202369)
2013
11
Assessment of hereditary angioedema treatment risks. (24169059)
2013
12
Management and prevention of hereditary angioedema attacks. (23844783)
2013
13
Hereditary angioedema: short-term prophylaxis for surgery. (22856630)
2012
14
Diagnosis and management of hereditary angioedema: an emergency medicine perspective. (22285754)
2012
15
Per-attack reporting of prodromal symptoms concurrent with C1-inhibitor treatment of hereditary angioedema attacks. (23054691)
2012
16
Acute abdominal pain with a spontaneous resolution as a mark to the diagnosis of hereditary angioedema. (23425872)
2012
17
Therapeutic approaches in hereditary angioedema. (21279474)
2011
18
Randomized placebo-controlled trial of the bradykinin Ba88 receptor antagonist icatibant for the treatment of acute attacks of hereditary angioedema: the FAST-3 trial. (22123383)
2011
19
Hereditary angioedema: classification, pathogenesis, and diagnosis. (22221432)
2011
20
Recent advances in management and treatment of hereditary angioedema. (22065270)
2011
21
Hereditary angioedema: an update. (21860172)
2011
22
Hereditary angioedema: an unusual cause of genital swelling presenting to a genitourinary medicine clinic. (21680677)
2011
23
Management of a dentigerous cyst in a child with hereditary angioedema. (20359432)
2010
24
The natural history of hereditary angioedema and the impact of treatment with human C1-inhibitor concentrate during pregnancy: a long-term survey. (20541309)
2010
25
2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema. (20667127)
2010
26
Baseline level of functional C1-inhibitor correlates with disease severity scores in hereditary angioedema. (19945350)
2010
27
Hereditary angioedema in Greek families caused by novel and recurrent mutations. (19706314)
2009
28
Current and emerging management options for hereditary angioedema in the US. (19093699)
2008
29
Long-term danazol prophylaxis does not lead to increased carotid intima-media thickness in hereditary angioedema patients. (17977544)
2008
30
Metallopeptidase activities in hereditary angioedema: effect of androgen prophylaxis on plasma aminopeptidase P. (18158172)
2008
31
Depressed activation of the lectin pathway of complement in hereditary angioedema. (18460017)
2008
32
Helicobacter pylori infection as a triggering factor of attacks in patients with hereditary angioedema. (17493006)
2007
33
Management of hereditary angioedema in pediatric patients. (17724112)
2007
34
C1-inhibitor (C1-INH) autoantibodies in hereditary angioedema. Strong correlation with the severity of disease in C1-INH concentrate naA^ve patients. (16750855)
2007
35
The establishment and utility of Sweha-Reg: a Swedish population-based registry to understand hereditary angioedema. (18053127)
2007
36
Paternal mosaicism and hereditary angioedema in a Taiwanese family. (17941288)
2007
37
Hereditary angioedema. (17039649)
2006
38
Hereditary angioedema. A report of a case and literature review]. (16634360)
2006
39
Current and future therapy for hereditary angioedema. (15596404)
2005
40
Treatment with C1 inhibitor concentrate in abdominal pain attacks of patients with hereditary angioedema. (16271103)
2005
41
Use of recombinant plasma kallikrein inhibitor in hereditary angioedema: a case report and review of the management of the disorder. (15573358)
2004
42
Fresh frozen plasma for acute exacerbations of hereditary angioedema. (15666287)
2004
43
Therapeutic approach of hereditary angioedema]. (15499486)
2004
44
Results of an on-line survey of patients with hereditary angioedema. (15176498)
2004
45
Hereditary and acquired angioedema. (15515380)
2004
46
Recurrent attacks of angioedema ascribed to the use of estrogen preparations and a pregnancy (hereditary angioedema type 3)]. (12224485)
2002
47
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. (11139243)
2001
48
Hereditary or acquired angioedema caused by functional deficiency of C1 inhibitor--a still unfamiliar disease picture]. (10093876)
1999
49
Hereditary angioedema in the German-speaking region]. (9551333)
1998
50
Altered C1 inhibitor genes in type I hereditary angioedema. (3587308)
1987

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

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