MCID: ANG041
MIFTS: 32

Angioedema, Hereditary, Types I and Ii malady

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

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

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Aliases & Descriptions for Angioedema, Hereditary, Types I and Ii:

Name: Angioedema, Hereditary, Types I and Ii 49 11
Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor 65
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 65
Hereditary Angioedema Types I and Ii 65
C1 Esterase Inhibitor Deficiency 67
 
Hereditary Angioneurotic Edema 67
Angioedemas, Hereditary 65
Hereditary Angioedema 67
Hane 67
Hae 67


Classifications:



External Ids:

OMIM49 106100
MeSH36 D054179

Summaries for Angioedema, Hereditary, Types I and Ii

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OMIM:49 Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous edema and... (106100) more...

MalaCards based summary: Angioedema, Hereditary, Types I and Ii, also known as hereditary c1 esterase inhibitor deficiency - dysfunctional factor, is related to hereditary angioedema and angioedema, and has symptoms including autosomal dominant inheritance, abnormality of the larynx and vomiting. 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 skin and bone.

UniProtKB/Swiss-Prot:67 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, Types I and Ii

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Diseases in the Angioedema family:

Angioedema, Hereditary, Type Iii angioedema, hereditary, types i and ii
Hereditary Angioedema Acquired Angioedema
Hereditary Angioedema Type 2 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 156)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary angioedema11.5
2angioedema11.5
3c1 inhibitor deficiency11.0
4urticaria10.9
5skin conditions10.8
6skin disease10.8
7vascular skin disease10.8
8drug rash with eosinophilia and systemic symptoms10.8
9asthma10.7
10skin tag10.7
11angioedema, hereditary, type iii10.6
12asthma 110.6
13laryngitis10.6
14vasculitis10.5
15hereditary angioedema type 210.5
16asthma 210.4
17peripheral vascular disease10.4
18brucellosis10.4
19physical urticaria10.4
20hereditary peripheral nervous disorder10.4
21familial mediterranean fever, ar10.4
22spastic diplegia10.4
23hypersensitivity reaction type ii disease10.4
24laryngeal disease10.4
25lupus erythematosus10.4
26myelofibrosis10.3
27splenic marginal zone lymphoma10.3
28angioimmunoblastic t-cell lymphoma10.3
29anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.3
30acute pancreatitis10.3
31intrinsic asthma10.3
32nutritional deficiency disease10.3
33pancreatitis10.3
34vascular cancer10.3
35acquired angioedema10.3
36coproporphyria10.3
37lymphedema10.3
38hereditary lymphedema10.3
39spondylarthropathy10.3
40systemic lupus erythematosus10.2
41celiac disease10.2
42c1s deficiency10.2
43arthritis10.2
44atherosclerosis10.2
45gamma chain deficiency10.2
46protein s deficiency10.2
47protein c deficiency10.2
48pulmonary edema10.2
49allergic urticaria10.2
50complement deficiency10.2

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

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

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of the larynx HP:0001600
3 vomiting HP:0002013
4 diarrhea HP:0002014
5 abdominal pain HP:0002027
6 autoimmunity HP:0002960
7 peripheral axonal neuropathy HP:0003477
8 intestinal edema HP:0005225
9 erythema HP:0010783
10 pharyngeal edema HP:0011855
11 laryngeal edema HP:0012027
12 angioedema HP:0100665

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

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Complement C1 Inactivator ProteinsPhase 4, Phase 3, Phase 1, Phase 238
2Complement C1sPhase 4, Phase 3, Phase 1, Phase 229
3Complement C1 Inhibitor ProteinPhase 4, Phase 3, Phase 1, Phase 241
4
IcatibantapprovedPhase 316138614-30-9, 130308-48-471364
Synonyms:
(2S)-2-[[(3aS,7aS)-1-[2-[(2S)-2-[[(2S)-2-[[2-[[(4R)-1-[1-[2-[[(2R)-2-amino-5-(diaminomethylideneamino)pentanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]pyrrolidine-2-carbonyl]-4-hydroxypyrrolidine-2-carbonyl]amino]acetyl]amino]-3-thiophen-2-ylpropanoyl]amino]-3-hydroxypropanoyl]-3,4-dihydro-1H-isoquinoline-3-carbonyl]-2,3,3a,4,5,6,7,7a-octahydroindole-2-carbonyl]amino]-5-(diaminomethylideneamino)pentanoic acid
(2s)-2-({[(3as,7as)-1-({2-[(2s)-2-{[(2s)-2-({[({(4r)-1-[(1-{2-({(2r)-2-amino-5-[(diaminomethylidene)amino]pentanoyl}amino)-5-[(diaminomethylidene)amino]pentanoyl}pyrrolidin-2-yl)carbonyl]-4-hydroxypyrrolidin-2-yl}carbonyl)amino]acetyl}amino)-3-(thiophen-2-yl)propanoyl]amino}-3-hydroxypropanoyl]-1,2,3,4-tetrahydroisoquinolin-3-yl}carbonyl)octahydro-1h-indol-2-yl]carbonyl}amino)-5-[(diaminomethylidene)amino]pentanoic acid(non-preferred name)
130308-48-4
138614-30-9 (acetate)
13996-86-6
153322-84-0
AC1L2G0Q
AC1Q5QRX
AR-1A3141
C59H89N19O13S
CHEBI:163731
CHEMBL411169
CID71364
 
D-Arg(Hyp(3)-Thi(5)-D-Tic(7)-Oic(8))BK
DB06196
Firazyr
HOE 140
HOE140
Hoe-140
Icatibant
Icatibant Acetate
Icatibant [INN]
JE049
KST-1A1301
LS-172762
WIN 65365
WIN-65365
5
BenzocaineapprovedPhase 315361994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
20/20 Topical Anesthetic
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Alcohol Prep Pads
Allegenal-m
Alpha-caine Topical Anesthetic
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anbesol Jr
Anbesol Maximum Strength
Anbesol Regular Strength
Anestenka
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthetic
Anesthone
Atopalm Oral Pain Relief
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Baby Anestenka
Baby Sensigel
Baby Sensigel Night Time Formula
Baby Teething Oral Pain Reliever
Bactimicina For Sore Throat
Bencocaine Topical Anesthetic
Bensokain
Benz O Sthetic
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzodent
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
Boil Ease
Boy Butter Desensitizing Lubricant
Boy Butter Extreme Desensitizing Lubricant
Boy Butter Extreme H2O Desensitizing Lubricant
Brace Relief
Budpak Baby Teething Oral Pain Reliever
Budpak Oral Maximum Strength
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Carmex Cold Sore Treatment External Analgesic
Caswell No. 430A
Cepacol Fizzlers
Cepacol Sensations Hydra
Cepacol Sensations Sore Throat Hydra citrus splash
Cepacol Sensations Warming
Certus Sting Relief Prep Pad
Chloraseptic
Chloraseptic Warming Sore Throat
Colgate Orabase
Comfortcaine Topical Anesthetic
Cvs Fast Acting Baby Teething
Cvs Maximum Strength
Cvs Maximum Strength Boil Relief
Cvs Oral Anesthetic
Cvs Pharmacy Instant Toothache
Cvs Pharmacy Maximum Strength
Cvs Pharmacy Mouth Sore Gel
Cvs Pharmacy Nighttime Oral Pain Relief
D001566
D00552
DB01086
Dental Relief
Dentek Instant Pain Relief Maximum Strength
Dermoplast
Diet Ayds
DivK1c_000932
Dollar General Toothache Relief
Dukal Sting Relief Pad
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Finafta Baby
Finafta MultiOral
Formate, Benzocaine
Gelato Topical Anesthetic
Good Neighbor Pain Relief
Goodsense Oral Pain Relief
Gps Topical Anesthetic
Gumnumb Topical Anesthetic
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Heb Severe Toothache
Herbasoul Male Genital Desensitizer Cream
 
Hurricaine
Hurricaine Topical Anesthetic
Hurricaine Topical Anesthetic Gel
Hurricaine Topical Anesthetic Liquid
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
Insect Bite Relief
Instant Toothache Pain Relief
Intense Cvs Intense Toothache
Iodent Maximum Strength Oral Analgesic
Ismile Topical Anesthetic
Jianze Sting Relief Pads
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Kank-a Mouth Pain
Keloform
Kmart Smart Sense
Kroger Toothache Pain Relief
LS-35847
Leader Oral Analgesic
Little Colds Sore Throat Relief Melt Aways
MLS001331704
MLS002153970
Makesense Junior Pain Relief
Makesense Pain Relief
Male Desensitizer Pleasure Balm
Mandelay Male Genital Desensitizer
Mark 3
Methanesulfonate, Benzocaine
MolPort-000-871-526
Mouth Sore Medication
Mouth Sore Relief Applicator
Mouth Sore Relief Professional Strength
My Fair Baby Instant Pain Relief
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Nene Dente
Norcain
Norcaine
Norcainum
Opahl
Opahl Dye Free
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orajel For All Mouth Sores Maximum Strength
Orajel For Cold Sores
Orajel For Toothache Maximum Strength
Orajel Instant Pain Relief Maximum Strength
Orajel Instant Pain Relief Regular Strength
Orajel Instant Relief For Teething Pain
Orajel Instant Relief For Teething Pain Cooling Cucumber
Orajel Instant Relief For Teething Pain Daytime Nighttime Twin Pack
Orajel Instant Relief For Teething Pain Longer Lasting
Orajel Maximum Strength
Orajel Nighttime Instant Relief For Teething Pain Longer Lasting Extra Strength
Orajel Severe Toothache Maximum Strength Fast-Acting Formula
Oral Analgesic Maximum Strength
Oral B Instant Pain Relief
Oral Gel Maximum Strength
Oral Pain Relief Anesthetic Anesthetic
Oral Pain Reliever
Oralabs Cold Sore Treatment
Orthesin
Otocain
Outgro
Pac-dent Top Gel
Pain Relief
Pain Relief Alcohol Swabs
Parathesin
Parathesin (TN)
Parathesine
Physicians Care Sting Relief Pad
Pleasure Balm Kama Sutra
Preboost
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
Purelife Topical Anesthetic
Quality Choice Maximum Strength Oral Pain Relieving
Red Cross Oral Pain Relief
Rexall Maximum Strength
Rite Aid Baby Care
Rite Aid Liquid Anesthetic Oral Pain Relief
Rite Aid Maximum Strength
Rite Aid Oral Pain Reliever
Rite Aid Professional Strength
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Sally Hansen Ouch-relief Numbing Wipes
Sally Hansen Ouch-relief Wax Kit
Sally Hansen Ouch-relief Wax Strip Kit
Sensigel
Severe Oral Pain Reliever
Sheffield Baby Teething Gel
Sheffield Pain Relief
Shunga Male Genital Desensitizer
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Sting Relief Medicated Pad
Sting Relief Pads
Tanac
Terrasil Boil Pain Relief
Tiger Supply Inc Topical Anesthetic
Top Quality Mfg. Topical Anesthetic
Topcaine
Topcare Maximum Strength
Topical Anesthetic Banana
Topical Anesthetic Bubble Gum
Topical Anesthetic Cherry
Topical Anesthetic Mint
Topical Anesthetic Pina Colada
Topical Anesthetic Raspberry
Topical Anesthetic Strawberry
UNII-U3RSY48JW5
Ultracare Anesthetic Bubble Gum
Ultracare Anesthetic Butter Rum
Ultracare Anesthetic Creme de Menthe
Ultracare Anesthetic Pina Colada
Ultracare Anesthetic Walterberry
WLN: ZR DVO2
Walgreens Baby Teething
Walgreens Intense Toothache
Walgreens Maximum Strength
Walgreens Pain Relieving For Boils
Walgreens Severe Oral Pain Reliever
Walgreens Severe Toothache Relief
Winco Foods Maximum Strength Oral Analgesic
ZINC12358719
Zilactin-b
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
6Complement System ProteinsPhase 3, Phase 2, Phase 1171
7tannic acidNutraceuticalPhase 31536

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Postmarketing Immunogenicity Study in HAE Subjects Treated With BerinertCompletedNCT01467947Phase 4
2A Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary AngioedemaCompletedNCT01912456Phase 3
3C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) AngioedemaCompletedNCT00125151Phase 3
4C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) AngioedemaCompletedNCT00125541Phase 2, Phase 3
5EASSI - Evaluation of the Safety of Self-Administration With IcatibantCompletedNCT00997204Phase 3
6A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3)CompletedNCT00912093Phase 3
7Efficacy and Safety Study of DX-2930 to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAERecruitingNCT02586805Phase 3
8A Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary AngioedemaActive, not recruitingNCT02316353Phase 3
9A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous RouteCompletedNCT01576523Phase 1, Phase 2
10Kinetics, Efficacy and Safety of C1-Esteraseremmer-NCompletedNCT00119431Phase 2
11A Study to Evaluate the Safety and Efficacy of HAE1 in Subjects With Moderate to Severe Allergic AsthmaCompletedNCT00406965Phase 2
12Study to Assess the Tolerability and Safety of Ecallantide in Children and Adolescents With Hereditary AngioedemaRecruitingNCT01832896Phase 2
13A Study to Evaluate the Safety and Pharmacokinetics of Two Formulations of C1-esterase InhibitorCompletedNCT01760343Phase 1

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

Genetic Tests for Angioedema, Hereditary, Types I and Ii

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Anatomical Context for Angioedema, Hereditary, Types I and Ii

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

33
Skin, 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:

67 (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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SERPING1SERPING1, EX7DELdeletionPathogenic
2SERPING1SERPING1, 1-BP INS, 1304AinsertionPathogenic
3SERPING1SERPING1, 1-BP DEL, 1298TdeletionPathogenic
4SERPING1SERPING1, IVS6, G-T, +1single nucleotide variantPathogenic
5SERPING1SERPING1, 1-BP DEL, 11698CdeletionPathogenic
6SERPING1NM_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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GO Terms 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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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet