MCID: ACQ012
MIFTS: 43

Acquired Angioedema malady

Genetic diseases, Rare diseases, Bone diseases, Immune diseases categories

Summaries for Acquired Angioedema

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NIH Rare Diseases:41 Acquired angioedema (aae) is a rare condition characterized by recurrent episodes of swelling (edema). affected people may have swelling of the face, lips, tongue, limbs, and genitals. sometimes there is abdominal pain due to edema of the gastrointestinal mucosa, and life-threatening edema of the upper respiratory tract. swelling episodes may be triggered by mild trauma (e.g., dental work), viral illness, cold exposure, pregnancy, ingestion of certain foods, or emotional stress. there are two forms of aae: type i and type ii. aae type i is most commonly associated with b-cell lymphoproliferative disorders and consumption of c1-inh.  aae type ii is an autoimmune condition associated with the presence of an autoantibody against c1-inh. treatment aims to control episodes and normalize c1-inh levels. when possible, the underlying disorder should be treated. last updated: 8/25/2014

MalaCards based summary: Acquired Angioedema, also known as acquired non histamine-induced angioedema, is related to angioedema and c1 inhibitor deficiency, and has symptoms including edema, urticaria and abdominal pain. An important gene associated with Acquired Angioedema is XPNPEP2 (X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound), and among its related pathways are Pertussis and Complement Pathway. The compounds inogatran and hirugen have been mentioned in the context of this disorder. Affiliated tissues include b cells, tongue and bone.

Aliases & Classifications for Acquired Angioedema

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Acquired Angioedema, Aliases & Descriptions:

Name: Acquired Angioedema 41 47 60
Acquired Non Histamine-Induced Angioedema 41 47
Acquired Bradykinine-Induced Angioedema 41 47
Acquired C1 Inhibitor Deficiency 41 47
 
Acquired Angioneurotic Edema 41 47
Aae 41 47
Angioedema, Acquired 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

47
acquired angioedema:
Inheritance: Not applicable; Age of onset: Adult


External Ids:

Orphanet47 91385
MESH via Orphanet34 C538173
ICD10 via Orphanet26 T78.3
UMLS via Orphanet61 C2931758

Related Diseases for Acquired Angioedema

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Diseases in the Angioedema family:

Angioedema, Hereditary, Type Iii Angioedema, Hereditary, Types I and Ii
acquired angioedema Acquired Angioedema Type 1
Acquired Angioedema Type 2

Diseases related to Acquired Angioedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1angioedema31.8C1S, SERPING1
2c1 inhibitor deficiency31.3SERPING1
3lupus erythematosus30.6F5, C1S, SERPINC1
4antiphospholipid syndrome30.0F5, SERPINC1
5systemic lupus erythematosus10.6
6acquired angioedema type 210.4
7sneddon syndrome10.4SERPINC1
8coronary thrombosis10.3SERPINC1
9acquired angioedema type 110.3
10eclampsia10.3SERPINC1
11melkersson-rosenthal syndrome10.3
12lymphosarcoma10.3
13sjogren's syndrome10.3
14branch retinal artery occlusion10.3F5
15central retinal vein occlusion10.3F5
16chronic lymphocytic leukemia10.2
17leukemia10.2
18angioedema, hereditary, types i and ii10.2C1S, SERPING1
19capillary leak syndrome10.2C1S, SERPING1
20psoriatic arthritis10.1
21anaplastic large cell lymphoma10.1
22arthritis10.1
23b-cell lymphomas10.1
24hemolytic anemia10.1
25hepatitis10.1
26marginal zone b-cell lymphoma10.1
27myelofibrosis10.1
28sinusitis10.1
29hepatitis c10.1
30autoimmune hemolytic anemia10.1
31castleman's disease10.1
32post-thrombotic syndrome10.0F5, SERPINC1
33legg-calve-perthes disease10.0F5, SERPINC1
34hypoprothrombinemia10.0F5, SERPINC1
35sagittal sinus thrombosis10.0F5, SERPINC1
36budd-chiari syndrome10.0SERPINC1, F5
37retinal vein occlusion10.0SERPINC1, F5
38blood protein disease10.0SERPINC1, F5
39thrombophilia due to antithrombin iii deficiency10.0SERPINC1, F5
40portal vein thrombosis10.0F5, SERPINC1
41intracranial thrombosis10.0SERPINC1, F5
42factor xii deficiency10.0F5, SERPINC1
43urticaria10.0XPNPEP2, SERPING1, C1S
44severe pre-eclampsia10.0F5, SERPINC1
45dysfibrinogenemia10.0F5, SERPINC1
46protein s deficiency10.0SERPINC1, F5
47hemorrhagic disease10.0SERPINC1, F5
48meningococcemia10.0F5, SERPINC1
49liver cirrhosis10.0C1S, SERPINC1
50placental abruption10.0F5, SERPINC1

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



Diseases related to acquired angioedema

Symptoms for Acquired Angioedema

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Symptoms:

 47
  • urticaria
  • cutaneous edema
  • acute abdominal pain/colic
  • angioedema/angioneurotic edema
  • intestinal obstruction/ileus
  • severe allergic reaction/atopy

HPO human phenotypes related to Acquired Angioedema:

id Description Frequency HPO Source Accession
1 edema hallmark (90%) HP:0000969
2 urticaria hallmark (90%) HP:0001025
3 abdominal pain hallmark (90%) HP:0002027
4 intestinal obstruction occasional (7.5%) HP:0005214
5 immunologic hypersensitivity occasional (7.5%) HP:0100326

Drugs & Therapeutics for Acquired Angioedema

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Drug clinical trials:

Search ClinicalTrials for Acquired Angioedema

Search NIH Clinical Center for Acquired Angioedema

Genetic Tests for Acquired Angioedema

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Anatomical Context for Acquired Angioedema

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MalaCards organs/tissues related to Acquired Angioedema:

31
B cells, Tongue, Bone, Skin, Testes

Animal Models for Acquired Angioedema or affiliated genes

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Publications for Acquired Angioedema

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Articles related to Acquired Angioedema:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
A UK national audit of hereditary and acquired angioedema. (23786259)
2014
2
Acquired angioedema with C1 inhibitor deficiency secondary to splenic marginal zone B-cell lymphoma. (24970460)
2014
3
Rituximab therapy in a patient with low grade B-cell lymphoproliferative disease and concomitant acquired angioedema. (25506230)
2014
4
A case of multicentric Castleman's disease in HIV infection with the rare complication of acquired angioedema. (24352125)
2013
5
Acquired angioedema with raised serum tryptase. (23244664)
2013
6
Acquired angioedema--occurrence, clinical features and associated disorders in a Danish nationwide patient cohort. (23921495)
2013
7
Chapter 22: Hereditary and acquired angioedema. (22794695)
2012
8
Acquired angioedema and marginal zone lymphoma. (22508826)
2012
9
International consensus on hereditary and acquired angioedema. (23176876)
2012
10
Successful treatment of an acute attack of acquired angioedema with the bradykinin-B2-receptor antagonist icatibant. (20477917)
2011
11
"Surgical" abdomen in a patient with chronic lymphocytic leukemia: a case of acquired angioedema. (21997434)
2011
12
Rapid resolution of erythema marginatum after icatibant in acquired angioedema. (21279303)
2011
13
Acquired angioedema with C1 inhibitor deficiency associated with anticardiolipin antibodies. (22230421)
2011
14
Treatment of acquired angioedema with icatibant: a case report. (20680518)
2011
15
Acquired angioedema: Autoantibody associations and C1q utility as a diagnostic tool. (20929611)
2010
16
Acquired angioedema. (20667117)
2010
17
Successful use of etanercept in acquired angioedema in a patient with psoriatic arthritis. (20040647)
2010
18
Optimal medical management of acute attacks of acquired angioedema. (20042567)
2010
19
Acquired angioedema associated with primary antiphospholipid syndrome in a patient with antithrombin III deficiency. (18204284)
2008
20
Acquired angioedema associated with hereditary angioedema due to C1 inhibitor deficiency. (18447143)
2008
21
Acute upper airway obstruction from acquired angioedema. (17305664)
2007
22
Acquired angioedema in non-Hodgkin's lymphoma. (17317233)
2007
23
Rituximab-induced elimination of acquired angioedema due to C1-inhibitor deficiency. (16887400)
2006
24
Skin venous thromboembolism by combined oral contraceptive in a woman with acquired angioedema and Factor V Leiden mutation. (16472576)
2006
25
Self-administration of C1-inhibitor concentrate in patients with hereditary or acquired angioedema caused by C1-inhibitor deficiency. (16630950)
2006
26
Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. (15356535)
2004
27
Hereditary and acquired angioedema: experience with patients in Puerto Rico. (15125214)
2004
28
Acquired angioedema: a new target for rituximab? (15339702)
2004
29
Clinical and biological distinctions between type I and type II acquired angioedema. (14553889)
2003
30
Acquired angioedema and Helicobacter pylori infection in a child. (12898238)
2003
31
Profhylaxis and treatment of hereditary and acquired angioedema at HUB; use of the C1-esterase inhibitor]. (14974880)
2003
32
Prevalence of monoclonal gammopathy in patients presenting with acquired angioedema type 2. (12208377)
2002
33
Anaplastic large cell lymphoma and acquired angioedema: a novel association? (12402660)
2002
34
Polyclonal autoantibodies against C1 inhibitor in a case of acquired angioedema. (12086372)
2002
35
Protein sgp 120 as a marker of an acquired angioedema. (11029608)
2000
36
Acquired angioedema associated with sinusitis. (10923586)
2000
37
Acquired angioedema associated with chronic hepatitis C. (10200025)
1999
38
Hereditary or acquired angioedema caused by functional deficiency of C1 inhibitor--a still unfamiliar disease picture]. (10093876)
1999
39
Acquired angioedema. (9092748)
1997
40
Activation of the contact system and fibrinolysis in autoimmune acquired angioedema: a rationale for prophylactic use of tranexamic acid. (8182230)
1994
41
Immunoadsorption in acquired angioedema: a therapeutic misadventure. (8453789)
1993
42
Acquired angioedema as the presenting feature of lymphoproliferative disorders of mature B-lymphocytes. (8242559)
1993
43
Replacement therapy in hereditary and acquired angioedema. (1409286)
1992
44
C1 inhibitor deficiency: molecular and immunologic basis of hereditary and acquired angioedema. (1921329)
1991
45
Acquired angioedema: observations on the mechanism of action of autoantibodies directed against C1 esterase inhibitor. (2454251)
1988
46
Acquired angioedema. (3203091)
1988
47
Electrophoretic differentiation of acquired angioedema from hereditary angioedema. (3568427)
1987
48
Acquired angioedema and hypocompleentemia in a patient with myelofibrosis. Effect of danazol treatment. (6899952)
1980
49
Acquired angioedema associated with rectal carcinoma and its response to danazol therapy. Acquired angioedema treated with danazol. (701655)
1978
50
Acquired angioedema with lymphoproliferative disorder: association of C1 inhibitor deficiency with cellular abnormality. (1085645)
1976

Variations for Acquired Angioedema

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Clinvar genetic disease variations for Acquired Angioedema:

6
id Gene Variation Type Significance SNP ID Assembly Location
1XPNPEP2NG_011479.1: g.2846C> Asingle nucleotide variantrisk factorrs3788853GRCh37Chr X, 128870791: 128870791

Expression for genes affiliated with Acquired Angioedema

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Search GEO for disease gene expression data for Acquired Angioedema.

Pathways for genes affiliated with Acquired Angioedema

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Pathways related to Acquired Angioedema according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3C1S, SERPING1
2
Show member pathways
Immune response Alternative complement pathway58
Immune response Lectin Induced complement pathway58
Immune response Classic complement pathway58
9.3C1S, SERPING1
3
Show member pathways
9.3F5, SERPING1
4
Show member pathways
9.1F5, SERPINC1
5
Show member pathways
8.5F5, SERPINC1, SERPING1
6
Show member pathways
8.5SERPING1, SERPINC1, F5
7
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
8.0SERPINC1, F5, SERPING1, C1S

Compounds for genes affiliated with Acquired Angioedema

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Compounds related to Acquired Angioedema according to GeneCards Suite gene sharing:

(show all 47)
idCompoundScoreTop Affiliating Genes
1inogatran439.6SERPINC1, F5
2hirugen439.6F5, SERPINC1
3ecarin439.6F5, SERPINC1
4spectrozyme439.6SERPINC1, F5
5nafamostat mesilate439.6F5, SERPINC1
6danaparoid439.6F5, SERPINC1
7ximelagatran43 1210.5SERPINC1, F5
8ancrod439.5SERPINC1, F5
9heparinoids439.5F5, SERPINC1
10fondaparinux439.5F5, SERPINC1
11bivalirudin43 1210.5F5, SERPINC1
12desogestrel43 1210.5SERPINC1, F5
13argatroban43 1210.5SERPINC1, F5
14gabexate mesilate439.5F5, SERPINC1
15tranexamic acid43 1210.5C1S, SERPINC1
16protamine sulfate439.5SERPINC1, F5
17gestodene43 1210.5F5, SERPINC1
18eltrombopag49 1210.5SERPINC1, F5
19benzamidine43 1210.5F5, SERPINC1
20ristocetin439.5F5, SERPINC1
21tibolone439.5F5, SERPINC1
22levonorgestrel43 59 28 1212.5F5, SERPINC1
23abciximab43 1210.5C1S, SERPINC1
24coumarin43 2 49 2412.4F5, SERPINC1
25desmopressin43 59 28 1212.4F5, SERPINC1
26fluorescein43 1210.4F5, SERPINC1
27hirudin439.4F5, SERPINC1
28protamine439.4SERPINC1, F5
29dermatan sulfate439.4F5, SERPINC1
30raloxifene43 49 28 1212.4F5, SERPINC1
31dextran sulfate439.3SERPINC1, F5
32warfarin43 49 24 1212.3F5, SERPINC1
33progestin439.3F5, SERPINC1
34polyethylene glycol439.2SERPINC1, F5
35folate439.1F5, SERPINC1
36kininogen439.1F5, SERPINC1, C1S
37aprotinin43 1210.0F5, SERPINC1, C1S
38homocysteine43 2410.0F5, SERPINC1
39prostacyclin439.0C1S, SERPINC1, F5
40aspirin43 49 28 2412.0F5, SERPINC1, C1S
41danazol43 24 1211.0SERPINC1, SERPING1, C1S
42fibrinogen439.0C1S, SERPINC1, F5
43citrate438.8F5, SERPINC1
44arginine438.7F5, SERPINC1, C1S
45alanine438.5SERPING1, SERPINC1, F5
46heparin43 28 24 1211.4C1S, SERPING1, SERPINC1, F5
47serine438.3C1S, SERPING1, SERPINC1, F5

GO Terms for genes affiliated with Acquired Angioedema

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Cellular components related to Acquired Angioedema according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.0F5, SERPING1
2blood microparticleGO:00725628.5C1S, SERPING1, SERPINC1
3extracellular spaceGO:00056158.5F5, SERPINC1, SERPING1
4extracellular regionGO:00055767.9F5, C1S, SERPING1, SERPINC1

Biological processes related to Acquired Angioedema according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood circulationGO:00080159.4SERPING1, F5
2complement activation, classical pathwayGO:00069589.2SERPING1, C1S
3negative regulation of endopeptidase activityGO:00109519.0SERPINC1, SERPING1
4platelet degranulationGO:00025769.0F5, SERPING1
5blood coagulationGO:00075968.5SERPINC1, F5, SERPING1

Molecular functions related to Acquired Angioedema according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.4F5, C1S
2serine-type endopeptidase inhibitor activityGO:00048678.7SERPINC1, SERPING1

Products for genes affiliated with Acquired Angioedema

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  • Kits and Assays

Sources for Acquired Angioedema

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet