MCID: ANG041
MIFTS: 37

Angioedema, Hereditary, Types I and Ii malady

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

Summaries for Angioedema, Hereditary, Types I and Ii

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NIH Rare Diseases:41 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 based summary: Angioedema, Hereditary, Types I and Ii, also known as hereditary angioneurotic edema, is related to c1 inhibitor deficiency and angioedema, and has symptoms including edema, urticaria and ascites. An important gene associated with Angioedema, Hereditary, Types I and Ii is SERPING1 (serpin peptidase inhibitor, clade G (C1 inhibitor), member 1). Affiliated tissues include bone.

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.

OMIM:45 Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous edema and... (106100) more...

Aliases & Classifications for Angioedema, Hereditary, Types I and Ii

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Sources:
45OMIM, 10diseasecard, 21Genetics Home Reference, 9Disease Ontology, 41NIH Rare Diseases, 47Orphanet, 22GTR, 20GeneTests, 43Novoseek, 60UMLS, 38NCIt, 33MeSH, 55SNOMED-CT, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
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Angioedema, Hereditary, Types I and Ii, Aliases & Descriptions:

Name: Angioedema, Hereditary, Types I and Ii 45 10
Hereditary Angioneurotic Edema 9 41 21 47 22
Hereditary Angioedema 9 41 21 47
Hereditary Angioedema Type 2 41 47 22
Angioedema, Hereditary 41 20 43
Hane 9 41 21
Hae 41 21 47
Hereditary Non Histamine-Induced Angioedema 41 47
Hereditary Bradykinine-Induced Angioedema 41 47
Hereditary Angioneurotic Edema Type 2 41 47
Familial Angioneurotic Edema 41 47
Hereditary Angioedema Type 1 41 47
 
Hae-Ii 41 47
Hae 2 41 47
Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor 60
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 60
Hereditary Angioneurotic Edema Type 1 47
Hereditary Angioedema Types I and Ii 60
Deficiency of C1 Esterase Inhibitor 41
C1 Esterase Inhibitor Deficiency 21
Angioedema, Hereditary, Type I 45
Angioedemas, Hereditary 60
C1 Inhibitor Deficiency 21
Hae-I 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
hereditary angioneurotic edema:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (Denmark),1-9/100000 (Norway),1-9/100000 (Spain); Age of onset: All ages
hereditary angioedema type 2:
Inheritance: Autosomal dominant; Age of onset: All ages
hereditary angioedema type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Italy); Age of onset: All ages


External Ids:

OMIM45 106100
Disease Ontology9 DOID:14735
NCIt38 C84758
MeSH33 D054179
SNOMED-CT55 82966003
Orphanet47 91378, 100051, 100050
ICD10 via Orphanet26 D84.1
UMLS via Orphanet61 C0398776, C1862892, C0398775 C2717906, more
MESH via Orphanet34 C538577

Related Diseases for Angioedema, Hereditary, Types I and Ii

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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 Angioedema, Hereditary, Types I and Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1c1 inhibitor deficiency11.2
2angioedema11.0
3acquired angioedema10.6
4lupus erythematosus10.6
5laryngitis10.6
6systemic lupus erythematosus10.5
7vasculitis10.5
8angioedema, hereditary, type iii10.4
9myelofibrosis10.4
10splenic marginal zone lymphoma10.4
11angioimmunoblastic t-cell lymphoma10.4
12acute pancreatitis10.3
13pancreatitis10.3
14blindness10.3
15coproporphyria10.3
16lymphedema10.3
17hereditary lymphedema10.3
18spondylarthropathy10.3
19celiac disease10.2
20atherosclerosis10.2
21urticaria10.2
22endotheliitis10.2
23rheumatoid arthritis10.2
24melkersson-rosenthal syndrome10.2
25arthritis10.2
26b-cell lymphomas10.2
27crohn's disease10.2
28marginal zone b-cell lymphoma10.2
29antiphospholipid syndrome10.2
30lymphosarcoma10.2
31sjogren's syndrome10.2
32capillary leak syndrome10.2
33dermatomyositis10.2
34neuropathy10.2
35systemic capillary leak syndrome10.2
36frasier syndrome10.1
37hepatocellular carcinoma10.1
38breast cancer10.1
39pancreatitis, hereditary10.1
40fabry disease10.1
41lung cancer10.1
42migraine10.1
43psoriatic arthritis10.1
44adult respiratory distress syndrome10.1
45glomerulonephritis10.1
46evans' syndrome10.1
47periarthritis10.1
48epiglottitis10.1
49aortitis10.1
50allergic urticaria10.1

Graphical network of the top 20 diseases related to Angioedema, Hereditary, Types I and Ii:



Diseases related to angioedema, hereditary, types i and ii

Symptoms for Angioedema, Hereditary, Types I and Ii

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Symptoms by clinical synopsis from OMIM:

106100

Clinical features from OMIM:

106100

Symptoms:

 47 (show all 7)
  • urticaria
  • cutaneous edema
  • autosomal dominant inheritance
  • ascitis
  • acute abdominal pain/colic
  • intestinal obstruction/ileus
  • severe allergic reaction/atopy

HPO human phenotypes related to Angioedema, Hereditary, Types I and Ii:

(show all 17)
id Description Frequency HPO Source Accession
1 edema hallmark (90%) HP:0000969
2 urticaria hallmark (90%) HP:0001025
3 ascites occasional (7.5%) HP:0001541
4 abdominal pain occasional (7.5%) HP:0002027
5 intestinal obstruction occasional (7.5%) HP:0005214
6 immunologic hypersensitivity occasional (7.5%) HP:0100326
7 autosomal dominant inheritance HP:0000006
8 abnormality of the larynx HP:0001600
9 vomiting HP:0002013
10 diarrhea HP:0002014
11 abdominal pain HP:0002027
12 autoimmunity HP:0002960
13 peripheral axonal neuropathy HP:0003477
14 intestinal edema HP:0005225
15 erythema HP:0010783
16 pharyngeal edema HP:0011855
17 laryngeal edema HP:0012027

Drugs & Therapeutics for Angioedema, Hereditary, Types I and Ii

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Drug clinical trials:

Search ClinicalTrials for Angioedema, Hereditary, Types I and Ii

Search NIH Clinical Center for Angioedema, Hereditary, Types I and Ii

Genetic Tests for Angioedema, Hereditary, Types I and Ii

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Genetic tests related to Angioedema, Hereditary, Types I and Ii:

id Genetic test Affiliating Genes
1 Hereditary Angioedema20 SERPING1
2 Hereditary Angioneurotic Edema22
3 Hereditary Angioedema, Type Ii22

Anatomical Context for Angioedema, Hereditary, Types I and Ii

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MalaCards organs/tissues related to Angioedema, Hereditary, Types I and Ii:

31
Bone

Animal Models for Angioedema, Hereditary, Types I and Ii or affiliated genes

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Publications for Angioedema, Hereditary, Types I and Ii

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Variations for Angioedema, Hereditary, Types I and Ii

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UniProtKB/Swiss-Prot genetic disease variations for Angioedema, Hereditary, Types I and Ii:

62 (show all 40)
id Symbol AA change Variation ID SNP ID
1SERPING1p.Gly429ArgVAR_007013
2SERPING1p.Val454GluVAR_007014
3SERPING1p.Ala456GluVAR_007015
4SERPING1p.Ala458ThrVAR_007016
5SERPING1p.Ala458ValVAR_007017
6SERPING1p.Ala465ValVAR_007018
7SERPING1p.Arg466CysVAR_007019rs28940870
8SERPING1p.Arg466HisVAR_007020
9SERPING1p.Arg466LeuVAR_007021rs121907948
10SERPING1p.Arg466SerVAR_007022rs28940870
11SERPING1p.Thr467ProVAR_007023
12SERPING1p.Val473MetVAR_007024
13SERPING1p.Phe477SerVAR_007026
14SERPING1p.Leu481ProVAR_007028
15SERPING1p.Leu481ArgVAR_007029
16SERPING1p.Pro489ArgVAR_007030
17SERPING1p.Pro498SerVAR_007031
18SERPING1p.Gly345ArgVAR_027376
19SERPING1p.Cys130TyrVAR_027379
20SERPING1p.Thr394ProVAR_027380
21SERPING1p.Asp408ValVAR_027381
22SERPING1p.Val473GluVAR_027382
23SERPING1p.Gly493GluVAR_027383
24SERPING1p.Pro498ArgVAR_027384
25SERPING1p.Thr118AlaVAR_068832rs200534715
26SERPING1p.Tyr154CysVAR_068833rs281875168
27SERPING1p.Ser170PheVAR_068834rs281875169
28SERPING1p.Gly184ArgVAR_068835rs281875170
29SERPING1p.Leu230ProVAR_068836rs281875171
30SERPING1p.Ile232LysVAR_068837rs281875172
31SERPING1p.Trp299ArgVAR_068839rs281875173
32SERPING1p.Leu430GlnVAR_068840rs281875174
33SERPING1p.Met441ThrVAR_068841rs281875175
34SERPING1p.Leu447ProVAR_068842rs281875176
35SERPING1p.Val473GlyVAR_068843rs281875177
36SERPING1p.Asp497GlyVAR_068844rs281875178
37SERPING1p.Leu11ArgVAR_071701
38SERPING1p.Trp265ArgVAR_071702
39SERPING1p.Ile274ValVAR_071703
40SERPING1p.Gly493ArgVAR_071704

Clinvar genetic disease variations for Angioedema, Hereditary, Types I and Ii:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SERPING1SERPING1, EX7DELdeletionPathogenic
2SERPING1NM_000062.2(SERPING1): c.1372G> A (p.Ala458Thr)single nucleotide variantPathogenicrs121907947GRCh37Chr 11, 57381923: 57381923
3SERPING1NM_000062.2(SERPING1): c.1397G> A (p.Arg466His)single nucleotide variantPathogenicrs121907948GRCh37Chr 11, 57381948: 57381948
4SERPING1NM_000062.2(SERPING1): c.1396C> T (p.Arg466Cys)single nucleotide variantPathogenicrs28940870GRCh37Chr 11, 57381947: 57381947
5SERPING1NM_000062.2(SERPING1): c.1396C> A (p.Arg466Ser)single nucleotide variantPathogenicrs28940870GRCh37Chr 11, 57381947: 57381947
6SERPING1SERPING1, 1-BP INS, 1304AinsertionPathogenic
7SERPING1SERPING1, 1-BP DEL, 1298TdeletionPathogenic
8SERPING1SERPING1, IVS6, G-T, +1single nucleotide variantPathogenic
9SERPING1SERPING1, 1-BP DEL, 11698CdeletionPathogenic
10SERPING1NM_000062.2(SERPING1): c.1361T> A (p.Val454Glu)single nucleotide variantPathogenicrs121907949GRCh37Chr 11, 57381912: 57381912
11SERPING1SERPING1, 3-BP INS, 16749TGTinsertionPathogenic
12SERPING1NM_000062.2(SERPING1): c.597C> G (p.Tyr199Ter)single nucleotide variantPathogenicrs121907951GRCh37Chr 11, 57369554: 57369554

Expression for genes affiliated with Angioedema, Hereditary, Types I and Ii

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Search GEO for disease gene expression data for Angioedema, Hereditary, Types I and Ii.

Pathways for genes affiliated with Angioedema, Hereditary, Types I and Ii

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Compounds for genes affiliated with Angioedema, Hereditary, Types I and Ii

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GO Terms for genes affiliated with Angioedema, Hereditary, Types I and Ii

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Products for genes affiliated with Angioedema, Hereditary, Types I and Ii

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Sources for Angioedema, Hereditary, Types I and Ii

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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