HAE
MCID: ANG068
MIFTS: 49

Angioedema, Hereditary, Type I (HAE)

Categories: Genetic diseases, Bone diseases, Immune 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
Hereditary Angioneurotic Edema 75 29 6
Hereditary Angioedema Type 1 59 29 6
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
Angioedema, Hereditary, Type 1 40
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 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 hereditary angioneurotic edema, is related to hereditary angioedema and angioedema, hereditary, type iii, and has symptoms including abdominal pain, diarrhea and vomiting. An important gene associated with Angioedema, Hereditary, Type I is SERPING1 (Serpin Family G Member 1), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. The drugs Icatibant and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include tongue and bone, and related phenotypes are facial edema and abdominal pain

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:

# Related Disease Score Top Affiliating Genes
1 hereditary angioedema 31.1 F12 SERPING1
2 angioedema, hereditary, type iii 11.4
3 angioedema 9.0 F12 SERPING1

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

UMLS symptoms related to Angioedema, Hereditary, Type I:


abdominal pain, diarrhea, vomiting

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 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icatibant Approved, Investigational Phase 4,Phase 3,Phase 1 138614-30-9, 130308-48-4 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 4 585-86-4 3871
6 Antibodies Phase 4,Phase 1
7 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
8 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
9 Complement C1s Phase 4,Phase 3,Phase 2,Phase 1
10 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
12 Immunoglobulins Phase 4,Phase 1
13 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Analgesics Phase 4,Phase 3,Phase 1
15 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
16 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
17 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 1
18 Antirheumatic Agents Phase 4,Phase 3,Phase 1
19 Bradykinin B2 Receptor Antagonists Phase 4,Phase 3,Phase 1
20 Bradykinin Receptor Antagonists Phase 4,Phase 3,Phase 1
21 Kininogens Phase 4,Phase 3,Phase 1
22 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
23 Vasodilator Agents Phase 4,Phase 3,Phase 1
24 Anti-Allergic Agents Phase 4
25 Anti-Asthmatic Agents Phase 4
26 Respiratory System Agents Phase 4
27
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
28
Tranexamic Acid Approved Phase 3 1197-18-8 5526
29 tannic acid Approved, Nutraceutical Phase 3
30 Pharmaceutical Solutions Phase 3,Phase 2
31 Antifibrinolytic Agents Phase 3
32 Coagulants Phase 3,Phase 2
33 Fibrinolytic Agents Phase 3,Not Applicable
34 Hemostatics Phase 3
35 Kallikreins Phase 3,Phase 2,Phase 1
36 Plasma Kallikrein Phase 3,Phase 2,Phase 1
37 Passionflower Nutraceutical Phase 3
38
Danazol Approved Phase 2 17230-88-5 28417
39 Estrogen Antagonists Phase 2
40 Estrogen Receptor Modulators Phase 2
41 Estrogens Phase 2
42 Hormone Antagonists Phase 2,Phase 1
43 Hormones Phase 2,Phase 1
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
45 Fertility Agents Phase 2
46
Digoxin Approved Phase 1 20830-75-5 30322 2724385
47
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
48
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
49
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
50
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594

Interventional clinical trials:

(show top 50) (show all 83)
# 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 Efficacy, Safety and Tolerability of Icatibant for the Treatment of HAE Completed NCT01457430 Phase 4 Icatibant
4 A Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE Completed NCT00914966 Phase 4
5 Treatment of Idiopathic Angioedema With Xolair as Add-on Therapy Recruiting NCT02966314 Phase 4 Omalizumab;Placebos
6 A Study to Evaluate the Benefit of RUCONEST® in Subjects With CVID Who Experience ADRs Related to IVIG Infusions Recruiting NCT03576469 Phase 4
7 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
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 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
16 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
17 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3 Icatibant;Placebo
18 Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema Completed NCT02052141 Phase 3
19 Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE) Completed NCT00456508 Phase 3 ecallantide
20 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
21 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
22 C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT01005888 Phase 3 Placebo (saline)
23 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
24 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
25 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
26 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
27 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
28 Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
29 Berinert P Study of Subcutaneous Versus Intravenous Administration Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
30 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
31 EASSI - Evaluation of the Safety of Self-Administration With Icatibant Completed NCT00997204 Phase 3 Icatibant
32 12-Week Safety and Efficacy Study of BCX4161 as an Oral Prophylaxis Against HAE Attacks Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
33 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
34 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3 Placebo (saline)
35 Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
36 A Long Term Safety Study of BCX7353 in Hereditary Angioedema Recruiting NCT03472040 Phase 2, Phase 3 BCX7353
37 Efficacy and Safety Study of BCX7353 as an Oral Treatment for the Prevention of Attacks in HAE Recruiting NCT03485911 Phase 3 BCX7353 capsules;Placebo oral capsule
38 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
39 Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
40 Study to Evaluate Ecallantide in Paediatric Patients With Acute Attacks of Hereditary Angioedema Withdrawn NCT01253382 Phase 2, Phase 3
41 A Study to Evaluate the Safety and Efficacy of HAE1 in Subjects With Moderate to Severe Allergic Asthma Completed NCT00406965 Phase 2 HAE1 (PRO98498)
42 Kinetics, Efficacy and Safety of C1-Esteraseremmer-N Completed NCT00119431 Phase 2 C1 inhibitor concentrate
43 A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous Route Completed NCT01576523 Phase 1, Phase 2
44 Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema Completed NCT02870972 Phase 2 BCX7353;Placebo
45 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
46 Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAE Completed NCT01984788 Phase 2 BCX4161;Placebo
47 A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase Completed NCT01426763 Phase 2
48 A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration Completed NCT01095497 Phase 2
49 EDEMA2: Evaluation of DX-88's Effect in Mitigating Angioedema Completed NCT01826916 Phase 2 DX-88 (ecallantide)
50 A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 Inhibitor Completed NCT02247739 Phase 2

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

Genetic tests related to Angioedema, Hereditary, Type I:

# Genetic test Affiliating Genes
1 Hereditary Angioedema Type 1 29 SERPING1
2 Hereditary Angioneurotic Edema 29

Anatomical Context for Angioedema, Hereditary, Type I

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

41
Tongue, Bone

Publications for Angioedema, Hereditary, Type I

Articles related to Angioedema, Hereditary, Type I:

(show all 20)
# Title Authors Year
1
Association of hereditary angioneurotic edema with spondylarthropathy: report of a case. ( 17980638 )
2008
2
Hereditary angioneurotic edema of the larynx. ( 16353410 )
2005
3
Hereditary angioneurotic edema: review of the literature. ( 10783504 )
2000
4
C1 esterase inhibitor concentrate during surgery with cardiopulmonary bypass: is there an indication beyond substitution therapy in patients with hereditary angioneurotic edema? ( 10917977 )
2000
5
[Hereditary angioneurotic edema in children]. ( 11143287 )
2000
6
Uneventful propofol anesthesia in a patient with coexisting hereditary coproporphyria and hereditary angioneurotic edema. ( 10691250 )
2000
7
[Abdominal pain and ascites as manifestations of hereditary angioneurotic edema]. ( 9644877 )
1998
8
[Efficacy of short-term danazol treatment in hereditary angioneurotic edema patients undergoing maxillofacial and dental surgical procedures]. ( 9658691 )
1998
9
[Simultaneous occurrence of hereditary angioneurotic edema and Crohn disease]. ( 9613166 )
1998
10
[Hereditary angioneurotic edema in gynecology-obstetrics. Management]. ( 8964952 )
1996
11
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
12
A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema. ( 8529136 )
1995
13
A de novo deletion in the C1 inhibitor gene in a case of sporadic hereditary angioneurotic edema. ( 8403537 )
1993
14
Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. ( 8172583 )
1993
15
A familial case of hereditary angioneurotic edema in Japan. ( 1611187 )
1992
16
Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema. ( 1885769 )
1991
17
Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene. ( 2296585 )
1990
18
Interactions of C1(-)-inhibitors from normal persons and patients with type II hereditary angioneurotic edema with purified activated Hageman factor (factor XIIa). ( 2302459 )
1990
19
[Clinical symptoms and therapy of the hereditary angioneurotic edema (author's transl)]. ( 7450814 )
1980
20
Genetic and physiological aspects of a family with chronic hereditary lymphedema (Nonne-Milroy-Meige's disease) and hereditary angioneurotic edema. ( 13533392 )
1958

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

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

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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