HAE1
MCID: ANG068
MIFTS: 58

Angioedema, Hereditary, Type I (HAE1)

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 58
Hereditary Angioneurotic Edema 76 30 6
Hereditary Angioedema Type 1 60 30 6
Angioedema, Hereditary, Types I and Ii 58 13
Hane 58 76
Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor 74
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 74
Angioneurotic Edema, Hereditary; Hane 58
Hereditary Angioneurotic Edema Type 2 60
Hereditary Angioneurotic Edema Type 1 60
C1 Esterase Inhibitor, Deficiency of 58
Hereditary Angioedema Types I and Ii 74
C1 Esterase Inhibitor Deficiency 76
Angioneurotic Edema, Hereditary 58
Angioedema, Hereditary, Type 1 41
Hereditary Angioedema Type 2 60
Hereditary Angioedema Type I 74
Angioedemas, Hereditary 74
Hereditary Angioedema 76
Hae-Ii 60
Hae 2 60
Hae 1 60
Hae-I 60
Hae1 58
Hae 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
angioedema, hereditary, type i:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Angioedema, Hereditary, Type I

OMIM : 58 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 hereditary angioneurotic edema, 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 Icatibant and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include tongue, skin and bone, and related phenotypes are abdominal pain and paresthesia

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 : 76 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 111)
# Related Disease Score Top Affiliating Genes
1 hereditary angioedema 31.9 F12 SERPING1 PLG
2 angioedema 31.9 F12 SERPING1
3 urticaria 29.8 F12 SERPING1
4 hereditary angioedema with normal c1inh 12.4
5 hereditary angioedema with c1inh deficiency 12.3
6 plg-related hereditary angioedema with normal c1inh 12.2
7 angpt1-related hereditary angioedema with normal c1inh 12.2
8 c1 inhibitor deficiency 11.6
9 angioedema, hereditary, type iii 11.6
10 frasier syndrome 11.2
11 complement component 4, partial deficiency of 10.8
12 lymphoma 10.4
13 pancreatitis 10.3
14 marginal zone b-cell lymphoma 10.2
15 lymphoproliferative syndrome 10.2
16 vasculitis 10.2
17 acute pancreatitis 10.2
18 lupus erythematosus 10.2
19 acquired angioedema 10.2
20 anxiety 10.1
21 arthritis 10.1
22 leukemia, chronic lymphocytic 2 10.1
23 leukemia, chronic lymphocytic 10.1
24 myelofibrosis 10.1
25 leukemia 10.1
26 splenic marginal zone lymphoma 10.1
27 angioimmunoblastic t-cell lymphoma 10.1
28 lymphocytic leukemia 10.1
29 peritonitis 10.1
30 leukemia, b-cell, chronic 10.1
31 glomerulonephritis 10.1
32 coproporphyria, hereditary 10.1
33 aging 10.1
34 charcot-marie-tooth disease 10.1
35 lymphedema 10.1
36 hereditary lymphedema 10.1
37 tooth disease 10.1
38 leiomyoma 10.1
39 cystitis 10.1
40 spondylarthropathy 10.1
41 hepatocellular carcinoma 10.0
42 intussusception 10.0
43 systemic lupus erythematosus 10.0
44 celiac disease 1 10.0
45 helicobacter pylori infection 10.0
46 immunoglobulin alpha deficiency 10.0
47 purpura 10.0
48 compartment syndrome 10.0
49 depression 10.0
50 thrombophilia due to thrombin defect 10.0

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

Human phenotypes related to Angioedema, Hereditary, Type I:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002027
2 paresthesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003401
3 edema of the dorsum of hands 60 33 hallmark (90%) Very frequent (99-80%) HP:0007514
4 dermatographic urticaria 60 33 hallmark (90%) Very frequent (99-80%) HP:0011971
5 facial edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0000282
6 intestinal edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0005225
7 laryngeal edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0012027
8 limbal edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0025349
9 tongue edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0040315
10 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
11 vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002013
12 diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002014
13 nausea 60 33 frequent (33%) Frequent (79-30%) HP:0002018
14 abnormality of salivation 60 33 frequent (33%) Frequent (79-30%) HP:0100755
15 hypotension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002615
16 respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002098
17 hoarse voice 60 33 occasional (7.5%) Occasional (29-5%) HP:0001609
18 abnormality of the uvula 60 33 occasional (7.5%) Occasional (29-5%) HP:0000172
19 inspiratory stridor 60 33 occasional (7.5%) Occasional (29-5%) HP:0005348
20 pharyngeal edema 60 33 occasional (7.5%) Occasional (29-5%) HP:0011855
21 abnormal epiglottis morphology 33 occasional (7.5%) HP:0005483
22 abnormality of metabolism/homeostasis 60 Very frequent (99-80%)
23 dyspnea 60 Frequent (79-30%)
24 autoimmunity 33 HP:0002960
25 erythema 33 HP:0010783
26 urticaria 60 Very frequent (99-80%)
27 peripheral axonal neuropathy 33 HP:0003477
28 abnormality of the soft palate 60 Occasional (29-5%)
29 angioedema 33 HP:0100665
30 abnormality of the larynx 33 HP:0001600
31 abnormal respiratory system morphology 60 Very frequent (99-80%)
32 axonal degeneration 33 HP:0040078
33 abnormality of the epiglottis 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
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

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 top 50) (show all 90)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icatibant Approved, Investigational Phase 4,Phase 3,Phase 1 130308-48-4, 138614-30-9 71364
2
Omalizumab Approved, Investigational Phase 4 242138-07-4
3
Histidine Approved, Nutraceutical Phase 4 71-00-1 6274
4
Bradykinin Investigational Phase 4,Phase 3,Phase 1 58-82-2 439201
5
Lactitol Investigational Phase 4 585-88-6, 585-86-4 493591
6 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
7 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
12 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
13 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
14 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
15 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
16 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Antibodies Phase 4,Phase 2,Phase 1
18 Complement C1s Phase 4,Phase 3,Phase 2,Phase 1
19 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Immunoglobulins Phase 4,Phase 2,Phase 1
21 Bradykinin Receptor Antagonists Phase 4,Phase 3,Phase 1
22 Kininogens Phase 4,Phase 3,Phase 1
23 Bradykinin B2 Receptor Antagonists Phase 4,Phase 3,Phase 1
24 Vasodilator Agents Phase 4,Phase 3,Phase 1
25 Anti-Allergic Agents Phase 4
26 Respiratory System Agents Phase 4
27 Anti-Asthmatic Agents Phase 4
28 Immunoglobulins, Intravenous Phase 4
29 Rho(D) Immune Globulin Phase 4
30 gamma-Globulins Phase 4
31 Ecallantide Approved, Investigational Phase 3,Phase 2 460738-38-9
32
tannic acid Approved Phase 3 1401-55-4
33
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
34
Tranexamic Acid Approved Phase 3 1197-18-8 5526
35 Pharmaceutical Solutions Phase 3,Phase 2
36 Antifibrinolytic Agents Phase 3
37 Fibrinolytic Agents Phase 3,Not Applicable
38 Coagulants Phase 3,Phase 2
39 Hemostatics Phase 3
40 Kallikreins Phase 3,Phase 2,Phase 1
41 Plasma Kallikrein Phase 3,Phase 2,Phase 1
42 Passionflower Phase 3
43
Danazol Approved Phase 2 17230-88-5 28417
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
45 Hormones Phase 2,Phase 1
46 Hormone Antagonists Phase 2,Phase 1
47 Fertility Agents Phase 2
48 Antineoplastic Agents, Immunological Phase 2
49 Plasminogen Phase 2
50 Antibodies, Monoclonal Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 90)
# Name Status NCT ID Phase Drugs
1 Postmarketing Immunogenicity Study in HAE Subjects Treated With Berinert Completed NCT01467947 Phase 4
2 A Call Center During HAE Attacks (SOS HAE) Completed NCT01679912 Phase 4
3 C1-INH Compared to Placebo at the Time of Prodromal Symptoms for Hereditary Angioedema (HAE) Exacerbation Withdrawn NCT01151735 Phase 4 C-1-esterase;C-1-esterase;placebo
4 Efficacy, Safety and Tolerability of Icatibant for the Treatment of HAE Completed NCT01457430 Phase 4 Icatibant
5 A Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE Completed NCT00914966 Phase 4
6 Treatment of Idiopathic Angioedema With Xolair as Add-on Therapy Recruiting NCT02966314 Phase 4 Omalizumab;Placebos
7 A Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions Recruiting NCT03576469 Phase 4
8 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
9 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
10 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
11 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
12 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00438815 Phase 3
13 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00462709 Phase 3
14 A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema Completed NCT01386658 Phase 3 icatibant
15 A Study of Icatibant for Acute Attacks of Hereditary Angioedema in Japanese Participants Completed NCT03888755 Phase 3 Icatibant
16 Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
17 Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1 Esterase Inhibitor for the Prevention of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema Completed NCT02584959 Phase 3 C1 esterase inhibitor [human] liquid;Placebo
18 Efficacy and Safety Study of DX-2930 to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Completed NCT02586805 Phase 3 DX-2930 - 300mg/2wk;DX-2930 - 300mg/4wk;DX-2930 - 150mg/4wk;Placebo
19 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3 Icatibant;Placebo
20 Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema Completed NCT02052141 Phase 3
21 Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE) Completed NCT00456508 Phase 3 ecallantide
22 Efficacy Study of DX-88 (Ecallantide) to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00457015 Phase 3 ecallantide;Phosphate Buffer Saline (PBS), pH 7.0
23 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00225147 Phase 2, Phase 3 Recombinant Human C1 Inhibitor;placebo
24 A Long Term Safety Study of BCX7353 in Hereditary Angioedema Recruiting NCT03472040 Phase 2, Phase 3 BCX7353
25 Study of C1 Inhibitor (Human) for the Prevention of Angioedema Attacks and Treatment of Breakthrough Attacks in Japanese Subjects With Hereditary Angioedema (HAE) Completed NCT02865720 Phase 3 CINRYZE 500 U;CINRYZE 1000 U
26 C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT01005888 Phase 3 Placebo (saline)
27 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
28 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
29 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
30 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
31 Study to Evaluate Ecallantide in Paediatric Patients With Acute Attacks of Hereditary Angioedema Withdrawn NCT01253382 Phase 2, Phase 3
32 Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
33 Berinert P Study of Subcutaneous Versus Intravenous Administration Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
34 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
35 EASSI - Evaluation of the Safety of Self-Administration With Icatibant Completed NCT00997204 Phase 3 Icatibant
36 12-Week Safety and Efficacy Study of BCX4161 as an Oral Prophylaxis Against HAE Attacks Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
37 Long-term Safety and Efficacy Study of DX-2930 (SHP643) to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Active, not recruiting NCT02741596 Phase 3 DX-2930;DX-2930
38 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262288 Phase 2, Phase 3 i.v. recombinant human C1 inhibitor
39 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3 Placebo (saline)
40 Study to Evaluate the Efficacy and Safety of BCX7353 as an Oral Treatment for the Prevention of HAE Attacks in Japan Recruiting NCT03873116 Phase 3 BCX7353 capsules;BCX7353 capsules;Placebo oral capsule
41 Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
42 Efficacy and Safety Study of BCX7353 as an Oral Treatment for the Prevention of Attacks in HAE Active, not recruiting NCT03485911 Phase 3 BCX7353 capsules;Placebo oral capsule
43 Study to Assess the Tolerability and Safety of Ecallantide in Children and Adolescents With Hereditary Angioedema Unknown status NCT01832896 Phase 2 Ecallantide subcutaneous dosing
44 A Study to Evaluate the Safety and Efficacy of HAE1 in Subjects With Moderate to Severe Allergic Asthma Completed NCT00406965 Phase 2 HAE1 (PRO98498)
45 Kinetics, Efficacy and Safety of C1-Esteraseremmer-N Completed NCT00119431 Phase 2 C1 inhibitor concentrate
46 A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous Route Completed NCT01576523 Phase 1, Phase 2
47 Study of BCX7353 as a Treatment for Attacks of Hereditary Angioedema Recruiting NCT03240133 Phase 2 BCX7353;Placebo
48 Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema Completed NCT02870972 Phase 2 BCX7353;Placebo
49 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
50 A Study to Investigate CSL312 in Subjects With Hereditary Angioedema (HAE) Recruiting NCT03712228 Phase 2 Placebo

Search NIH Clinical Center for Angioedema, Hereditary, Type I

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Angioedema, Hereditary, Type I

Genetic tests related to Angioedema, Hereditary, Type I:

# Genetic test Affiliating Genes
1 Hereditary Angioedema Type 1 30 SERPING1
2 Hereditary Angioneurotic Edema 30

Anatomical Context for Angioedema, Hereditary, Type I

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

42
Tongue, Skin, Bone, B Cells, Testes, Small Intestine, Liver

Publications for Angioedema, Hereditary, Type I

Articles related to Angioedema, Hereditary, Type I:

(show top 50) (show all 155)
# Title Authors Year
1
Hereditary angioneurotic edema … a disease has been described. ( 29046190 )
2017
2
De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema. ( 23688413 )
2013
3
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. ( 22197274 )
2012
4
A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation. ( 20864152 )
2010
5
Association of hereditary angioneurotic edema with spondylarthropathy: report of a case. ( 17980638 )
2008
6
First case of homozygous C1 inhibitor deficiency. ( 17137866 )
2006
7
Gonadal mosaicism in hereditary angioedema. ( 16813612 )
2006
8
Hereditary angioneurotic edema of the larynx. ( 16353410 )
2005
9
Recurrent colocolic intussusception in a child with hereditary angioneurotic edema: reduction by air enema. ( 15213920 )
2004
10
A tracheostomy obturator for a patient with hereditary angioneurotic edema. ( 15153859 )
2004
11
Reversible acute abdominal episode of hereditary angioneurotic edema. ( 15487262 )
2004
12
Association of celiac disease and hereditary angioneurotic edema. ( 12385467 )
2002
13
Esophageal leiomyoma incidentally recognized during an acute attack of hereditary angioneurotic edema. ( 11344367 )
2001
14
Successful use of C1 esterase inhibitor protein in a patient with hereditary angioneurotic edema requiring coronary artery bypass surgery. ( 10612778 )
2000
15
Uneventful propofol anesthesia in a patient with coexisting hereditary coproporphyria and hereditary angioneurotic edema. ( 10691250 )
2000
16
Hereditary angioneurotic edema: review of the literature. ( 10783504 )
2000
17
Hereditary angioneurotic edema and familial Crohn's disease. ( 10799088 )
2000
18
C1 esterase inhibitor concentrate during surgery with cardiopulmonary bypass: is there an indication beyond substitution therapy in patients with hereditary angioneurotic edema? ( 10917977 )
2000
19
C1 esterase inhibitor concentrate during surgery with cardiopulmonary bypass: is there an indication beyond substitution therapy in patients with hereditary angioneurotic edema? ( 10917978 )
2000
20
[Hereditary angioneurotic edema in children]. ( 11143287 )
2000
21
Hereditary angioneurotic edema. ( 10713817 )
1999
22
A novel donor splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioneurotic edema. ( 9579556 )
1998
23
Hereditary angioneurotic edema and thromboembolic diseases: I: How symptoms of acute attacks change with aging. ( 9652897 )
1998
24
[Simultaneous occurrence of hereditary angioneurotic edema and Crohn disease]. ( 9613166 )
1998
25
[Abdominal pain and ascites as manifestations of hereditary angioneurotic edema]. ( 9644877 )
1998
26
[Efficacy of short-term danazol treatment in hereditary angioneurotic edema patients undergoing maxillofacial and dental surgical procedures]. ( 9658691 )
1998
27
Molecular defects in hereditary angioneurotic edema. ( 9069585 )
1997
28
Association of Sjögren's syndrome with hereditary angioneurotic edema: report of a case. ( 9191888 )
1997
29
Antibody to C1-inhibitor in a patient receiving C1-inhibitor infusions for treatment of hereditary angioneurotic edema with systemic lupus erythematosus reacts with a normal allotype of residue 458 of C1-inhibitor. ( 8833894 )
1996
30
[Hereditary angioneurotic edema in gynecology-obstetrics. Management]. ( 8964952 )
1996
31
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. ( 8755917 )
1996
32
A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema. ( 8529136 )
1995
33
Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema. ( 8125476 )
1994
34
Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. ( 8172583 )
1993
35
C1-inhibitor and its genetic alterations in hereditary angioneurotic edema. ( 8340674 )
1993
36
Ultrasonography in hereditary angioneurotic edema during pregnancy. ( 8362961 )
1993
37
A de novo deletion in the C1 inhibitor gene in a case of sporadic hereditary angioneurotic edema. ( 8403537 )
1993
38
Transtracheal jet ventilation in an adult patient with severe hereditary angioneurotic edema. ( 8413062 )
1993
39
Plasminogen activation in hereditary angioneurotic edema. ( 8426075 )
1993
40
Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema. ( 8450054 )
1993
41
Hereditary angioneurotic edema with severe hypovolemic shock. ( 8505498 )
1993
42
C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema. ( 8396558 )
1993
43
A familial case of hereditary angioneurotic edema in Japan. ( 1611187 )
1992
44
A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema. ( 1339401 )
1992
45
C1 inhibitor hinge region mutations produce dysfunction by different mechanisms. ( 1363816 )
1992
46
Hereditary angioneurotic edema--an often misdiagnosed entity. ( 1874160 )
1991
47
Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema. ( 1885769 )
1991
48
Synthesis of C1 inhibitor in fibroblasts from patients with type I and type II hereditary angioneurotic edema. ( 1902490 )
1991
49
Hereditary angioneurotic edema. ( 1921386 )
1991
50
Hereditary angioneurotic edema in the puerperium. A case report. ( 2072364 )
1991

Variations for Angioedema, Hereditary, Type I

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

76 (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 top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPING1 NM_000062.2(SERPING1): c.550G> A (p.Gly184Arg) single nucleotide variant Pathogenic/Likely pathogenic rs281875170 GRCh37 Chromosome 11, 57367850: 57367850
2 SERPING1 NM_000062.2(SERPING1): c.550G> A (p.Gly184Arg) single nucleotide variant Pathogenic/Likely pathogenic rs281875170 GRCh38 Chromosome 11, 57600377: 57600377
3 SERPING1 NM_000062.2(SERPING1): c.5C> T (p.Ala2Val) single nucleotide variant Conflicting interpretations of pathogenicity rs185342631 GRCh38 Chromosome 11, 57598275: 57598275
4 SERPING1 NM_000062.2(SERPING1): c.5C> T (p.Ala2Val) single nucleotide variant Conflicting interpretations of pathogenicity rs185342631 GRCh37 Chromosome 11, 57365748: 57365748
5 PLG NM_000301.3(PLG): c.988A> G (p.Lys330Glu) single nucleotide variant Pathogenic rs889957249 GRCh37 Chromosome 6, 161139762: 161139762
6 PLG NM_000301.3(PLG): c.988A> G (p.Lys330Glu) single nucleotide variant Pathogenic rs889957249 GRCh38 Chromosome 6, 160718730: 160718730
7 SERPING1 NM_000062.2(SERPING1): c.1247T> A (p.Leu416Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 57379407: 57379407
8 SERPING1 NM_000062.2(SERPING1): c.1247T> A (p.Leu416Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 57611934: 57611934
9 SERPING1 NM_000062.2(SERPING1): c.55A> T (p.Arg19Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 57367355: 57367355
10 SERPING1 NM_000062.2(SERPING1): c.55A> T (p.Arg19Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 57599882: 57599882
11 SERPING1 NM_000062.2(SERPING1): c.615dup (p.Val206Cysfs) duplication Pathogenic rs1554995260 GRCh37 Chromosome 11, 57369572: 57369572
12 SERPING1 NM_000062.2(SERPING1): c.615dup (p.Val206Cysfs) duplication Pathogenic rs1554995260 GRCh38 Chromosome 11, 57602099: 57602099
13 SERPING1 NM_000062.2(SERPING1): c.1353_1354delGA (p.Glu451Aspfs) deletion Pathogenic/Likely pathogenic rs1554996833 GRCh37 Chromosome 11, 57381904: 57381905
14 SERPING1 NM_000062.2(SERPING1): c.1353_1354delGA (p.Glu451Aspfs) deletion Pathogenic/Likely pathogenic rs1554996833 GRCh38 Chromosome 11, 57614431: 57614432
15 SERPING1 NM_000062.2(SERPING1): c.646delAinsTCAGTGTCGTG (p.Lys216Serfs) indel Pathogenic rs1554995271 GRCh37 Chromosome 11, 57369603: 57369603
16 SERPING1 NM_000062.2(SERPING1): c.646delAinsTCAGTGTCGTG (p.Lys216Serfs) indel Pathogenic rs1554995271 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.871A> C (p.Asn291His) single nucleotide variant Likely pathogenic rs1057520366 GRCh38 Chromosome 11, 57606195: 57606195
22 SERPING1 NM_000062.2(SERPING1): c.871A> C (p.Asn291His) single nucleotide variant Likely pathogenic rs1057520366 GRCh37 Chromosome 11, 57373668: 57373668
23 SERPING1 NM_000062.2(SERPING1): c.953C> G (p.Ser318Ter) single nucleotide variant Pathogenic rs1554995860 GRCh38 Chromosome 11, 57606471: 57606471
24 SERPING1 NM_000062.2(SERPING1): c.953C> G (p.Ser318Ter) single nucleotide variant Pathogenic rs1554995860 GRCh37 Chromosome 11, 57373944: 57373944
25 SERPING1 NM_000062.2(SERPING1): c.587T> A (p.Ile196Asn) single nucleotide variant Uncertain significance rs1554995255 GRCh37 Chromosome 11, 57369544: 57369544
26 SERPING1 NM_000062.2(SERPING1): c.587T> A (p.Ile196Asn) single nucleotide variant Uncertain significance rs1554995255 GRCh38 Chromosome 11, 57602071: 57602071
27 SERPING1 NG_009625.1: g.8569_9924del1356 deletion Pathogenic GRCh37 Chromosome 11, 57368595: 57369950
28 SERPING1 NG_009625.1: g.8569_9924del1356 deletion Pathogenic GRCh38 Chromosome 11, 57601122: 57602477
29 SERPING1 NM_000062.2(SERPING1): c.597C> G (p.Tyr199Ter) single nucleotide variant Pathogenic rs121907951 GRCh38 Chromosome 11, 57602081: 57602081
30 SERPING1 NM_000062.2(SERPING1): c.597C> G (p.Tyr199Ter) single nucleotide variant Pathogenic rs121907951 GRCh37 Chromosome 11, 57369554: 57369554
31 SERPING1 SERPING1, C-T, -103, PROMOTER single nucleotide variant Pathogenic
32 SERPING1 NM_000062.2(SERPING1): c.1357_1358insTGT (p.Gly453delinsValTrp) insertion Pathogenic rs606231141 GRCh37 Chromosome 11, 57381908: 57381909
33 SERPING1 NM_000062.2(SERPING1): c.1357_1358insTGT (p.Gly453delinsValTrp) insertion Pathogenic rs606231141 GRCh38 Chromosome 11, 57614435: 57614436
34 SERPING1 NM_000062.2(SERPING1): c.1361T> A (p.Val454Glu) single nucleotide variant Pathogenic rs121907949 GRCh38 Chromosome 11, 57614439: 57614439
35 SERPING1 NM_000062.2(SERPING1): c.1361T> A (p.Val454Glu) single nucleotide variant Pathogenic rs121907949 GRCh37 Chromosome 11, 57381912: 57381912
36 SERPING1 SERPING1, 1-BP DEL, 11698C deletion Pathogenic
37 SERPING1 NM_000062.2(SERPING1): c.1249+1G> T single nucleotide variant Pathogenic rs112565881 GRCh37 Chromosome 11, 57379410: 57379410
38 SERPING1 NM_000062.2(SERPING1): c.1249+1G> T single nucleotide variant Pathogenic rs112565881 GRCh38 Chromosome 11, 57611937: 57611937
39 SERPING1 NM_000062.2(SERPING1): c.1264del (p.Ser422Leufs) deletion Pathogenic rs1554996817 GRCh37 Chromosome 11, 57381815: 57381815
40 SERPING1 NM_000062.2(SERPING1): c.1264del (p.Ser422Leufs) deletion Pathogenic rs1554996817 GRCh38 Chromosome 11, 57614342: 57614342
41 SERPING1 NM_000062.2(SERPING1): c.1268dup (p.Tyr423Terfs) duplication Pathogenic rs1554996819 GRCh37 Chromosome 11, 57381819: 57381819
42 SERPING1 NM_000062.2(SERPING1): c.1268dup (p.Tyr423Terfs) duplication Pathogenic rs1554996819 GRCh38 Chromosome 11, 57614346: 57614346
43 SERPING1 NM_000062.2(SERPING1): c.1396C> A (p.Arg466Ser) single nucleotide variant Pathogenic rs28940870 GRCh38 Chromosome 11, 57614474: 57614474
44 SERPING1 NM_000062.2(SERPING1): c.1396C> A (p.Arg466Ser) single nucleotide variant Pathogenic rs28940870 GRCh37 Chromosome 11, 57381947: 57381947
45 SERPING1 NM_000062.2(SERPING1): c.1396C> T (p.Arg466Cys) single nucleotide variant Pathogenic rs28940870 GRCh38 Chromosome 11, 57614474: 57614474
46 SERPING1 NM_000062.2(SERPING1): c.1396C> T (p.Arg466Cys) single nucleotide variant Pathogenic rs28940870 GRCh37 Chromosome 11, 57381947: 57381947
47 SERPING1 NM_000062.2(SERPING1): c.1397G> A (p.Arg466His) single nucleotide variant Pathogenic rs121907948 GRCh38 Chromosome 11, 57614475: 57614475
48 SERPING1 NM_000062.2(SERPING1): c.1397G> A (p.Arg466His) single nucleotide variant Pathogenic rs121907948 GRCh37 Chromosome 11, 57381948: 57381948
49 SERPING1 NM_000062.2(SERPING1): c.1372G> A (p.Ala458Thr) single nucleotide variant Pathogenic rs121907947 GRCh38 Chromosome 11, 57614450: 57614450
50 SERPING1 NM_000062.2(SERPING1): c.1372G> A (p.Ala458Thr) single nucleotide variant Pathogenic rs121907947 GRCh37 Chromosome 11, 57381923: 57381923

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

Cellular components related to Angioedema, Hereditary, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.54 F12 PLG SERPING1
2 extracellular exosome GO:0070062 9.5 F12 PLG SERPING1
3 extracellular space GO:0005615 9.33 F12 PLG SERPING1
4 collagen-containing extracellular matrix GO:0062023 9.26 PLG SERPING1
5 blood microparticle GO:0072562 8.96 PLG SERPING1
6 platelet alpha granule lumen GO:0031093 8.62 PLG SERPING1

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 9.43 F12 SERPING1
2 blood coagulation GO:0007596 9.43 F12 PLG SERPING1
3 platelet degranulation GO:0002576 9.4 PLG SERPING1
4 blood coagulation, intrinsic pathway GO:0007597 9.37 F12 SERPING1
5 regulation of blood coagulation GO:0030193 9.32 F12 SERPING1
6 positive regulation of fibrinolysis GO:0051919 9.16 F12 PLG
7 hemostasis GO:0007599 9.13 F12 PLG SERPING1
8 fibrinolysis GO:0042730 8.8 F12 PLG SERPING1

Molecular functions related to Angioedema, Hereditary, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.96 F12 PLG
2 serine-type peptidase activity GO:0008236 8.62 F12 PLG

Sources for Angioedema, Hereditary, Type I

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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