HAE
MCID: ANG068
MIFTS: 48

Angioedema, Hereditary, Type I (HAE)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Angioedema, Hereditary, Type I

MalaCards integrated aliases for Angioedema, Hereditary, Type I:

Name: Angioedema, Hereditary, Type I 57
Angioedema, Hereditary, Types I and Ii 57 13
Hane 57 75
Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor 73
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 73
Angioneurotic Edema, Hereditary; Hane 57
Hereditary Angioneurotic Edema Type 2 59
Hereditary Angioneurotic Edema Type 1 59
C1 Esterase Inhibitor, Deficiency of 57
Hereditary Angioedema Types I and Ii 73
C1 Esterase Inhibitor Deficiency 75
Angioneurotic Edema, Hereditary 57
Hereditary Angioneurotic Edema 75
Hereditary Angioedema Type 1 59
Hereditary Angioedema Type 2 59
Hereditary Angioedema Type I 73
Angioedemas, Hereditary 73
Hereditary Angioedema 75
Hae-Ii 59
Hae 2 59
Hae 1 59
Hae-I 59
Hae1 57
Hae 75

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
symptoms typically begin in childhood
prevalence estimated at 1 in 50,000
highly variable frequency and severity of attacks
trauma, anxiety, and/or stress can precipitate or aggravate edema
laryngeal edema can result in asphyxiation
associated with increased frequency of autoimmune diseases
several patients with homozygous c1nh mutations have been reported (see )


HPO:

32
angioedema, hereditary, type i:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Angioedema, Hereditary, Type I

OMIM : 57 Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. There are 2 classic types of the disorder. In type I, representing 85% of patients, serum levels of C1NH are less than 35% of normal (Cicardi and Agostoni, 1996; Bowen et al., 2001). In type II, the levels are normal or elevated, but the protein is nonfunctional. The 2 types are clinically indistinguishable. See 300145 for a discussion of angioedema induced by ACE inhibitors. Zuraw (2008) provided a detailed review of the clinical features, management, and pathogenesis of hereditary angioedema. (106100)

MalaCards based summary : Angioedema, Hereditary, Type I, also known as angioedema, hereditary, types i and ii, is related to hereditary angioedema and angioedema, and has symptoms including vomiting, abdominal pain and diarrhea. An important gene associated with Angioedema, Hereditary, Type I is SERPING1 (Serpin Family G Member 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). The drugs Immunologic Factors and Complement System Proteins have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and tongue, and related phenotypes are dysphagia and hypotension

CDC : 3 CDC’s Health Alert Network (HAN) is CDC’s primary method of sharing cleared information about urgent public health incidents with public information officers; federal, state, territorial, tribal, and local public health practitioners; clinicians; and public health laboratories.

UniProtKB/Swiss-Prot : 75 Hereditary angioedema: An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional.

Related Diseases for Angioedema, Hereditary, Type I

Diseases in the Angioedema family:

Angioedema, Hereditary, Type I Angioedema, Hereditary, Type Iii
Hereditary Angioedema Acquired Angioedema
Acquired Angioedema Type 1 Acquired Angioedema Type 2

Diseases related to Angioedema, Hereditary, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 hereditary angioedema 32.7 SERPING1 F12
2 angioedema 31.7 SERPING1 F12
3 urticaria 29.7 SERPING1 F12
4 c1 inhibitor deficiency 11.6
5 angioedema, hereditary, type iii 11.6
6 frasier syndrome 11.1
7 complement component 4, partial deficiency of 10.8
8 lymphoma 10.3
9 pancreatitis 10.3
10 vasculitis 10.2
11 acute pancreatitis 10.2
12 lupus erythematosus 10.2
13 acquired angioedema 10.2
14 anxiety 10.1
15 arthritis 10.1
16 compartment syndrome 10.1
17 leukemia, chronic lymphocytic 2 10.1
18 leukemia, chronic lymphocytic 10.1
19 myelofibrosis 10.1
20 leukemia 10.1
21 marginal zone b-cell lymphoma 10.1
22 splenic marginal zone lymphoma 10.1
23 angioimmunoblastic t-cell lymphoma 10.1
24 lymphocytic leukemia 10.1
25 leukemia, b-cell, chronic 10.1
26 coproporphyria, hereditary 10.1
27 aging 10.1
28 charcot-marie-tooth disease 10.1
29 lymphedema 10.1
30 hereditary lymphedema 10.1
31 tooth disease 10.1
32 leiomyoma 10.1
33 cystitis 10.1
34 spondylarthropathy 10.1
35 thrombophilia due to thrombin defect 10.0
36 thrombosis 10.0
37 alveolar echinococcosis 10.0
38 echinococcosis 10.0
39 hepatocellular carcinoma 10.0
40 intussusception 10.0
41 systemic lupus erythematosus 10.0
42 celiac disease 1 10.0
43 helicobacter pylori infection 10.0
44 glomerulonephritis 10.0
45 immunoglobulin alpha deficiency 10.0
46 purpura 10.0
47 depression 10.0
48 pfeiffer syndrome 9.8
49 breast cancer 9.8
50 immunoglobulin a deficiency 1 9.8

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



Diseases related to Angioedema, Hereditary, Type I

Symptoms & Phenotypes for Angioedema, Hereditary, Type I

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
vomiting
diarrhea
intestinal edema

Respiratory Larynx:
laryngeal edema

Skin Nails Hair Skin:
erythema marginatum

Neurologic Peripheral Nervous System:
peripheral axonal neuropathy, distal, vasculitic
sural nerve biopsy shows axonal degeneration
impaired sensation of all modalities, distal

Abdomen:
abdominal pain

Respiratory Nasopharynx:
pharyngeal edema

Muscle Soft Tissue:
episodic, nonpruritic, nonurticarial, nonpitting edema

Laboratory Abnormalities:
c1 esterase inhibitor deficiency
low level of c4 and c2


Clinical features from OMIM:

106100

Human phenotypes related to Angioedema, Hereditary, Type I:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
2 hypotension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002615
3 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
4 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
5 respiratory distress 59 32 occasional (7.5%) Occasional (29-5%) HP:0002098
6 paresthesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003401
7 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
8 hoarse voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001609
9 edema of the dorsum of hands 59 32 hallmark (90%) Very frequent (99-80%) HP:0007514
10 dermatographic urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0011971
11 nausea 59 32 frequent (33%) Frequent (79-30%) HP:0002018
12 facial edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000282
13 intestinal edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0005225
14 laryngeal edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0012027
15 limbal edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0025349
16 tongue edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0040315
17 abnormality of salivation 59 32 frequent (33%) Frequent (79-30%) HP:0100755
18 abnormality of the uvula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000172
19 inspiratory stridor 59 32 occasional (7.5%) Occasional (29-5%) HP:0005348
20 pharyngeal edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0011855
21 abnormality of metabolism/homeostasis 59 Very frequent (99-80%)
22 dyspnea 59 Frequent (79-30%)
23 autoimmunity 32 HP:0002960
24 erythema 32 HP:0010783
25 urticaria 59 Very frequent (99-80%)
26 peripheral axonal neuropathy 32 HP:0003477
27 abnormality of the soft palate 59 Occasional (29-5%)
28 angioedema 32 HP:0100665
29 abnormality of the larynx 32 HP:0001600
30 abnormal respiratory system morphology 59 Very frequent (99-80%)
31 axonal degeneration 32 HP:0040078
32 abnormality of the epiglottis 59 Occasional (29-5%)
33 abnormal epiglottis morphology 32 occasional (7.5%) HP:0005483

UMLS symptoms related to Angioedema, Hereditary, Type I:


vomiting, abdominal pain, diarrhea

Drugs & Therapeutics for Angioedema, Hereditary, Type I

Drugs for Angioedema, Hereditary, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
2 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
3 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
4 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Complement C1s Phase 4,Phase 3,Phase 1,Phase 2
6 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
7 Immunoglobulins Phase 4
8 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Antibodies Phase 4

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Postmarketing Immunogenicity Study in HAE Subjects Treated With Berinert Completed NCT01467947 Phase 4
2 A Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT02316353 Phase 3
3 A Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT01912456 Phase 3
4 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
5 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
6 Study to Assess the Tolerability and Safety of Ecallantide in Children and Adolescents With Hereditary Angioedema Unknown status NCT01832896 Phase 2 Ecallantide subcutaneous dosing
7 A Study to Evaluate the Safety and Efficacy of HAE1 in Subjects With Moderate to Severe Allergic Asthma Completed NCT00406965 Phase 2 HAE1 (PRO98498)
8 Kinetics, Efficacy and Safety of C1-Esteraseremmer-N Completed NCT00119431 Phase 2 C1 inhibitor concentrate
9 A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous Route Completed NCT01576523 Phase 1, Phase 2
10 A Study to Evaluate the Safety and Pharmacokinetics of Two Formulations of C1-esterase Inhibitor Completed NCT01760343 Phase 1
11 Epidemiological Analysis for Hereditary Angioedema Disease Recruiting NCT03558009

Search NIH Clinical Center for Angioedema, Hereditary, Type I

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Angioedema, Hereditary, Type I

Anatomical Context for Angioedema, Hereditary, Type I

MalaCards organs/tissues related to Angioedema, Hereditary, Type I:

41
Skin, Bone, Tongue, Breast, Ovary, T Cells, B Cells

Publications for Angioedema, Hereditary, Type I

Articles related to Angioedema, Hereditary, Type I:

# Title Authors Year
1
Endothelial cell activation during edematous attacks of hereditary angioedema types I and II. ( 24522092 )
2014
2
Factor XII-independent activation of the bradykinin-forming cascade: Implications for the pathogenesis of hereditary angioedema types I and II. ( 23672780 )
2013

Variations for Angioedema, Hereditary, Type I

UniProtKB/Swiss-Prot genetic disease variations for Angioedema, Hereditary, Type I:

75 (show all 40)
# Symbol AA change Variation ID SNP ID
1 SERPING1 p.Gly429Arg VAR_007013
2 SERPING1 p.Val454Glu VAR_007014 rs121907949
3 SERPING1 p.Ala456Glu VAR_007015
4 SERPING1 p.Ala458Thr VAR_007016 rs121907947
5 SERPING1 p.Ala458Val VAR_007017
6 SERPING1 p.Ala465Val VAR_007018 rs121907950
7 SERPING1 p.Arg466Cys VAR_007019 rs28940870
8 SERPING1 p.Arg466His VAR_007020 rs121907948
9 SERPING1 p.Arg466Leu VAR_007021 rs121907948
10 SERPING1 p.Arg466Ser VAR_007022 rs28940870
11 SERPING1 p.Thr467Pro VAR_007023
12 SERPING1 p.Val473Met VAR_007024
13 SERPING1 p.Phe477Ser VAR_007026
14 SERPING1 p.Leu481Pro VAR_007028
15 SERPING1 p.Leu481Arg VAR_007029
16 SERPING1 p.Pro489Arg VAR_007030
17 SERPING1 p.Pro498Ser VAR_007031
18 SERPING1 p.Gly345Arg VAR_027376
19 SERPING1 p.Cys130Tyr VAR_027379
20 SERPING1 p.Thr394Pro VAR_027380
21 SERPING1 p.Asp408Val VAR_027381
22 SERPING1 p.Val473Glu VAR_027382
23 SERPING1 p.Gly493Glu VAR_027383
24 SERPING1 p.Pro498Arg VAR_027384
25 SERPING1 p.Thr118Ala VAR_068832 rs200534715
26 SERPING1 p.Tyr154Cys VAR_068833 rs281875168
27 SERPING1 p.Ser170Phe VAR_068834 rs281875169
28 SERPING1 p.Gly184Arg VAR_068835 rs281875170
29 SERPING1 p.Leu230Pro VAR_068836 rs281875171
30 SERPING1 p.Ile232Lys VAR_068837 rs281875172
31 SERPING1 p.Trp299Arg VAR_068839 rs281875173
32 SERPING1 p.Leu430Gln VAR_068840 rs281875174
33 SERPING1 p.Met441Thr VAR_068841 rs281875175
34 SERPING1 p.Leu447Pro VAR_068842 rs281875176
35 SERPING1 p.Val473Gly VAR_068843 rs281875177
36 SERPING1 p.Asp497Gly VAR_068844 rs281875178
37 SERPING1 p.Leu11Arg VAR_071701
38 SERPING1 p.Trp265Arg VAR_071702
39 SERPING1 p.Ile274Val VAR_071703
40 SERPING1 p.Gly493Arg VAR_071704

ClinVar genetic disease variations for Angioedema, Hereditary, Type I:

6 (show all 43)
# Gene Variation Type Significance SNP ID Assembly Location
1 F12 NM_000505.3(F12): c.983C> A (p.Thr328Lys) single nucleotide variant Pathogenic rs118204456 GRCh37 Chromosome 5, 176831232: 176831232
2 F12 NM_000505.3(F12): c.983C> A (p.Thr328Lys) single nucleotide variant Pathogenic rs118204456 GRCh38 Chromosome 5, 177404231: 177404231
3 SERPING1 NG_009625.1: g.8569_9924del1356 deletion Pathogenic GRCh38 Chromosome 11, 57601122: 57602477
4 SERPING1 NG_009625.1: g.8569_9924del1356 deletion Pathogenic GRCh37 Chromosome 11, 57368595: 57369950
5 SERPING1 NM_000062.2(SERPING1): c.587T> A (p.Ile196Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 57602071: 57602071
6 SERPING1 NM_000062.2(SERPING1): c.587T> A (p.Ile196Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 57369544: 57369544
7 SERPING1 NM_000062.2(SERPING1): c.953C> G (p.Ser318Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 57373944: 57373944
8 SERPING1 NM_000062.2(SERPING1): c.953C> G (p.Ser318Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 57606471: 57606471
9 SERPING1 NM_000062.2(SERPING1): c.1030-20A> G single nucleotide variant Benign rs2511988 GRCh37 Chromosome 11, 57379170: 57379170
10 SERPING1 NM_000062.2(SERPING1): c.1030-20A> G single nucleotide variant Benign rs2511988 GRCh38 Chromosome 11, 57611697: 57611697
11 SERPING1 NM_000062.2(SERPING1): c.1438G> A (p.Val480Met) single nucleotide variant Benign rs4926 GRCh37 Chromosome 11, 57381989: 57381989
12 SERPING1 NM_000062.2(SERPING1): c.1438G> A (p.Val480Met) single nucleotide variant Benign rs4926 GRCh38 Chromosome 11, 57614516: 57614516
13 SERPING1 NM_000062.2(SERPING1): c.615dup (p.Val206Cysfs) duplication Pathogenic GRCh37 Chromosome 11, 57369572: 57369572
14 SERPING1 NM_000062.2(SERPING1): c.615dup (p.Val206Cysfs) duplication Pathogenic GRCh38 Chromosome 11, 57602099: 57602099
15 SERPING1 NM_000062.2(SERPING1): c.646delAinsTCAGTGTCGTG (p.Lys216Serfs) indel Pathogenic GRCh37 Chromosome 11, 57369603: 57369603
16 SERPING1 NM_000062.2(SERPING1): c.646delAinsTCAGTGTCGTG (p.Lys216Serfs) indel Pathogenic GRCh38 Chromosome 11, 57602130: 57602130
17 SERPING1 NM_000062.2(SERPING1): c.1198C> T (p.Arg400Cys) single nucleotide variant Pathogenic rs201363394 GRCh37 Chromosome 11, 57379358: 57379358
18 SERPING1 NM_000062.2(SERPING1): c.1198C> T (p.Arg400Cys) single nucleotide variant Pathogenic rs201363394 GRCh38 Chromosome 11, 57611885: 57611885
19 SERPING1 NM_000062.2(SERPING1): c.1385T> G (p.Ile462Ser) single nucleotide variant Pathogenic rs763451792 GRCh37 Chromosome 11, 57381936: 57381936
20 SERPING1 NM_000062.2(SERPING1): c.1385T> G (p.Ile462Ser) single nucleotide variant Pathogenic rs763451792 GRCh38 Chromosome 11, 57614463: 57614463
21 SERPING1 NM_000062.2(SERPING1): c.597C> G (p.Tyr199Ter) single nucleotide variant Pathogenic rs121907951 GRCh38 Chromosome 11, 57602081: 57602081
22 SERPING1 NM_000062.2(SERPING1): c.597C> G (p.Tyr199Ter) single nucleotide variant Pathogenic rs121907951 GRCh37 Chromosome 11, 57369554: 57369554
23 SERPING1 SERPING1, C-T, -103, PROMOTER single nucleotide variant Pathogenic
24 SERPING1 NM_000062.2(SERPING1): c.1357_1358insTGT (p.Gly453delinsValTrp) insertion Pathogenic rs606231141 GRCh37 Chromosome 11, 57381908: 57381909
25 SERPING1 NM_000062.2(SERPING1): c.1357_1358insTGT (p.Gly453delinsValTrp) insertion Pathogenic rs606231141 GRCh38 Chromosome 11, 57614435: 57614436
26 SERPING1 NM_000062.2(SERPING1): c.1361T> A (p.Val454Glu) single nucleotide variant Pathogenic rs121907949 GRCh38 Chromosome 11, 57614439: 57614439
27 SERPING1 NM_000062.2(SERPING1): c.1361T> A (p.Val454Glu) single nucleotide variant Pathogenic rs121907949 GRCh37 Chromosome 11, 57381912: 57381912
28 SERPING1 SERPING1, 1-BP DEL, 11698C deletion Pathogenic
29 SERPING1 NM_000062.2(SERPING1): c.1249+1G> T single nucleotide variant Pathogenic rs112565881 GRCh37 Chromosome 11, 57379410: 57379410
30 SERPING1 NM_000062.2(SERPING1): c.1249+1G> T single nucleotide variant Pathogenic rs112565881 GRCh38 Chromosome 11, 57611937: 57611937
31 SERPING1 NM_000062.2(SERPING1): c.1264delT (p.Ser422Leufs) deletion Pathogenic GRCh37 Chromosome 11, 57381815: 57381815
32 SERPING1 NM_000062.2(SERPING1): c.1264delT (p.Ser422Leufs) deletion Pathogenic GRCh38 Chromosome 11, 57614342: 57614342
33 SERPING1 NM_000062.2(SERPING1): c.1268dup (p.Tyr423Terfs) duplication Pathogenic GRCh37 Chromosome 11, 57381819: 57381819
34 SERPING1 NM_000062.2(SERPING1): c.1268dup (p.Tyr423Terfs) duplication Pathogenic GRCh38 Chromosome 11, 57614346: 57614346
35 SERPING1 NM_000062.2(SERPING1): c.1396C> A (p.Arg466Ser) single nucleotide variant Pathogenic rs28940870 GRCh38 Chromosome 11, 57614474: 57614474
36 SERPING1 NM_000062.2(SERPING1): c.1396C> A (p.Arg466Ser) single nucleotide variant Pathogenic rs28940870 GRCh37 Chromosome 11, 57381947: 57381947
37 SERPING1 NM_000062.2(SERPING1): c.1396C> T (p.Arg466Cys) single nucleotide variant Pathogenic rs28940870 GRCh38 Chromosome 11, 57614474: 57614474
38 SERPING1 NM_000062.2(SERPING1): c.1396C> T (p.Arg466Cys) single nucleotide variant Pathogenic rs28940870 GRCh37 Chromosome 11, 57381947: 57381947
39 SERPING1 NM_000062.2(SERPING1): c.1397G> A (p.Arg466His) single nucleotide variant Pathogenic rs121907948 GRCh38 Chromosome 11, 57614475: 57614475
40 SERPING1 NM_000062.2(SERPING1): c.1397G> A (p.Arg466His) single nucleotide variant Pathogenic rs121907948 GRCh37 Chromosome 11, 57381948: 57381948
41 SERPING1 NM_000062.2(SERPING1): c.1372G> A (p.Ala458Thr) single nucleotide variant Pathogenic rs121907947 GRCh38 Chromosome 11, 57614450: 57614450
42 SERPING1 NM_000062.2(SERPING1): c.1372G> A (p.Ala458Thr) single nucleotide variant Pathogenic rs121907947 GRCh37 Chromosome 11, 57381923: 57381923
43 SERPING1 SERPING1, EX7DEL deletion Pathogenic

Expression for Angioedema, Hereditary, Type I

Search GEO for disease gene expression data for Angioedema, Hereditary, Type I.

Pathways for Angioedema, Hereditary, Type I

GO Terms for Angioedema, Hereditary, Type I

Biological processes related to Angioedema, Hereditary, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.37 F12 SERPING1
2 blood coagulation GO:0007596 9.32 F12 SERPING1
3 hemostasis GO:0007599 9.26 F12 SERPING1
4 fibrinolysis GO:0042730 9.16 F12 SERPING1
5 blood coagulation, intrinsic pathway GO:0007597 8.96 F12 SERPING1
6 regulation of blood coagulation GO:0030193 8.62 F12 SERPING1

Sources for Angioedema, Hereditary, Type I

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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37 KEGG
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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