MCID: HRD002
MIFTS: 54

Hereditary Angioedema malady

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

Aliases & Classifications for Hereditary Angioedema

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 36MeSH, 65UMLS, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Hereditary Angioedema:

Name: Hereditary Angioedema 10 45 23 12 51
Hereditary Angioneurotic Edema 10 45 22 23 51 24
Hereditary Angioedema Type 1 45 22 51
Angioedema, Hereditary 45 22 47
Hane 10 45 23
Hae 45 23 51
Deficiency of C1 Esterase Inhibitor 45 22
Hereditary Non Histamine-Induced Angioedema 51
 
Hereditary Bradykinine-Induced Angioedema 51
Hereditary Angioneurotic Edema Type 1 51
C1 Esterase Inhibitor Deficiency 23
Familial Angioneurotic Edema 51
Angioedemas, Hereditary 36
C1 Inhibitor Deficiency 23
Hae-I 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
hereditary angioneurotic edema:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (Denmark),1-9/100000 (Norway),1-9/100000 (Spain); Age of onset: All ages
hereditary angioedema type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Italy); Age of onset: All ages


External Ids:

Disease Ontology10 DOID:14735
MeSH36 D054179
NCIt42 C84758
Orphanet51 91378, 100050
SNOMED-CT59 82966003
ICD10 via Orphanet28 D84.1
MESH via Orphanet37 C538577
UMLS via Orphanet66 C0398775, C2717906

Summaries for Hereditary Angioedema

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NIH Rare Diseases:45 Hereditary angioedema (hae) is an immune disorder characterized by recurrent episodes of severe swelling. the most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. hae is caused by low levels or improper function of a protein called c1 inhibitor which affects the blood vessels. this condition is inherited in an autosomal dominant pattern.there are three types of hae, types i, ii, and iii. the types can be distinguished by their underlying causes and levels of c1 inhibitor in the blood. type i and ii are caused by mutations in the serping1 gene. some cases of type iii are associated with mutations in the f12 gene. other genes are likely to be identified as the cause of other cases of hae type iii. last updated: 5/25/2011

MalaCards based summary: Hereditary Angioedema, also known as hereditary angioneurotic edema, is related to angioedema and c1 inhibitor deficiency, and has symptoms including edema, urticaria and ascites. An important gene associated with Hereditary Angioedema is SERPING1 (Serpin Peptidase Inhibitor, Clade G (C1 Inhibitor), Member 1), and among its related pathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and MSP-RON Signaling. Affiliated tissues include skin, bone and endothelial, and related mouse phenotype cardiovascular system.

Genetics Home Reference:23 Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.

Wikipedia:68 Hereditary angioedema (types I, II and III) (also known as \"HAE\") is a rare, autosomal dominantly... more...

Related Diseases for Hereditary Angioedema

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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 Hereditary Angioedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 179)
idRelated DiseaseScoreTop Affiliating Genes
1angioedema11.5
2c1 inhibitor deficiency11.0
3urticaria10.9
4skin conditions10.8
5skin disease10.8
6vascular skin disease10.8
7drug rash with eosinophilia and systemic symptoms10.8
8asthma10.7
9skin tag10.7
10angioedema, hereditary, type iii10.6
11angioedema, hereditary, types i and ii10.6
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 Hereditary Angioedema:



Diseases related to hereditary angioedema

Symptoms for Hereditary Angioedema

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Symptoms:

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

HPO human phenotypes related to Hereditary Angioedema:

(show all 6)
id Description Frequency HPO Source Accession
1 edema hallmark (90%) HP:0000969
2 urticaria hallmark (90%) HP:0001025
3 ascites occasional (7.5%) HP:0001541
4 abdominal pain occasional (7.5%) HP:0002027
5 intestinal obstruction occasional (7.5%) HP:0005214
6 immunologic hypersensitivity occasional (7.5%) HP:0100326

Drugs & Therapeutics for Hereditary Angioedema

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

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IcatibantapprovedPhase 4, Phase 3, Phase 116138614-30-9, 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
2Complement C1sPhase 4, Phase 3, Phase 2, Phase 129
3Complement System ProteinsPhase 4, Phase 3, Phase 2, Phase 1171
4Complement C1 Inactivator ProteinsPhase 4, Phase 3, Phase 2, Phase 138
5Complement C1 Inhibitor ProteinPhase 4, Phase 3, Phase 2, Phase 141
6
Tranexamic AcidapprovedPhase 31991197-18-85526
Synonyms:
08455_FLUKA
1197-17-7
1197-18-8
1ceb
3-14-00-00868 (Beilstein Handbook Reference)
4-(Aminomethyl)-Cyclohexanecarboxylic Acid
4-(Aminomethyl)cyclohexanecarboxylic acid
4-(aminomethyl)cyclohexane-1-carboxylic acid
857653_ALDRICH
A0236
AB00052260
AB1003647
AC-4687
AC1L1KJH
AC1Q50F3
AC1Q546D
AC1Q5U04
ALBB-006013
AMCA
AMCHA
AMH
AR-1F6595
Acide tranexamique
Acide tranexamique [INN-French]
Acido tranexamico
Acido tranexamico [INN-Spanish]
Acidum tranexamicum
Acidum tranexamicum [INN-Latin]
Amikapron
Amstat
Anvitoff
BAY 3517
BPBio1_000069
BRN 2207452
BSPBio_000061
BSPBio_002837
CAS-1197-18-8
CHEBI:48669
CHEMBL292500
CHEMBL877
CID5526
CL 65336
CL-65336
Carxamin
Cyclocapron
Cyklokapron
Cyklokapron (TN)
D01136
DB00302
DV 79
DV-79
DV79
DivK1c_000655
EINECS 214-818-2
Emorhalt
Exacyl
Frenolyse
HMS1568D03
HMS1921F08
HMS2092P03
HMS502A17
Hexapromin
Hexatron
I04-0993
IDI1_000655
KABI 2161
KBio1_000655
KBio2_001871
KBio2_004439
KBio2_007007
KBio3_002337
KBioGR_000511
KBioSS_001871
 
LS-56611
LS-56612
LT00159441
Lysteda
Mastop
MolPort-001-792-390
MolPort-002-512-008
NCGC00016569-01
NCGC00016569-02
NCGC00016569-03
NCGC00094944-01
NCGC00094944-02
NINDS_000655
NSC 291305
NSC291305
Oprea1_786414
Prestwick0_000171
Prestwick1_000171
Prestwick2_000171
Prestwick3_000171
Prestwick_476
RP 18,429
Rikavarin
Rikavarin (TN)
Rikavarin-S
SPBio_000689
SPBio_001982
SPECTRUM1502026
STK503668
STOCK1N-16183
Spectrum2_000655
Spectrum3_001189
Spectrum4_000046
Spectrum5_001258
Spectrum_001391
Spiramin
Tamcha
Tranex
Tranexamate
Tranexamic Acid
Tranexamic acid (JP15/USAN/INN)
Tranexamic acid [USAN:INN:BAN:JAN]
Tranexamic acid cis-form
Tranexamsaeure
Tranexan
Tranexmic acid
Tranhexamic acid
Trans AMCHA
Trans-1-(Aminomethyl)cyclohexane-4-carboxylic acid
Trans-4-(Aminomethyl)-1-cyclohexanecarboxylic acid
Trans-p-(Aminomethyl)cyclohexanecarboxylic
Transamin
Transamin (TN)
Transamlon
Trasamlon
UNII-6T84R30KC1
Ugurol
WLN: L6TJ AVQ D1Z -T
cis-4-(Aminomethyl)cyclohexanecarboxylic acid
cis-4-Aminomethylcyclohexane-1-carboxylic acid
cis-AMCHA
t-AMCHA
tranexamic acid
tranexmic acid
trans-1-Aminomethylcyclohexane-4-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-1-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-carboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid ester
trans-4-Aminomethylcyclohexane-1-carboxylic acid
trans-4-aminomethylcyclohexane-1-carboxylic acid
trans-Amcha
trans-Tranexamic acid
trans-p-(Aminomethyl)cyclohexanecarboxylic acid
7
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
8Plasma KallikreinPhase 3, Phase 2, Phase 15
9KallikreinsPhase 3, Phase 2, Phase 121
10CoagulantsPhase 3983
11
BradykininPhase 33858-82-2439201
Synonyms:
Callidin I
Kallidin 9
 
Kallidin I
L-Arginyl-L-prolyl-L-prolylglycyl-L-phenylalanyl-L-seryl-L-prolyl-L-phenylalanyl-L-Arginine
L-Bradykinin
12KininogensPhase 338
13PassionflowerNutraceuticalPhase 315
14tannic acidNutraceuticalPhase 31536
15
DanazolapprovedPhase 21517230-88-528417
Synonyms:
(17a)-Pregna-2,4-dien-20-yno[2,3-D]isoxazol-17-ol
(1R,3aS,3bR,10aR,10bS,12aS)-1-ethynyl-10a,12a-dimethyl-2,3,3a,3b,4,5,10,10a,10b,11,12,12a-dodecahydro-1H-cyclopenta[7,8]phenanthro[3,2-d]isoxazol-1-ol
(1S,2R,13R,14S,17R,18S)-17-ethynyl-2,18-dimethyl-7-oxa-6-azapentacyclo[11.7.0.0^{2,10}.0^{4,8}.0^{14,18}]icosa-4(8),5,9-trien-17-ol
1-Ethynyl-10a,12a-dimethyl-2,3,3a,3b,4,5,10,10a,10b,11,12,12a-dodecahydro-1H-cyclopenta[7,8]phenanthro[3,2-d]isoxazol-1-ol
1-Ethynyl-2,3,3a,3b,4,5,10,10a,10b,11,12,12a-dodecahydro-10a,12a-dimethyl-1H-Cyclopenta[7,8]phenanthro[3,2-D]isoxazol-1-ol
17 alpha-Pregna-2,4-dien-20-yno[2,3-D] isoxazol-17 beta-ol
17-alpha-2,4-Pregnadien-20-yno(2,3-d)isoxazol-17-ol
17-alpha-Pregn-4-en-20-yno(2,3-d)isoxazol-17-ol
17-alpha-Pregna-2,4-dien-20-yno(2,3-d)isoxazol-17-ol
17.Alpha.-Pregna-2, {4-dien-20-yno[2,3-d]isoxazol-17-ol}
17230-88-5
17a-Pregna-2,4-dien-20-yne-[2,3-D]isoxazole-17b-ol
17a-Pregna-2,4-dien-20-yno[2,3-D]isoxazol-17-ol
17alpha-Pregna-2,4-dien-20-yno(2,3-d)isoxazol-17-ol
1H-Cyclopenta[7,8]phenanthro[3,2-D]isoxazole- pregna-2,4-dien-20-yno[2,3-D]isoxazol-17-ol deriv.
AC-6836
AC1L1FAD
AC1Q282K
AC1Q29FD
Alphapharm Brand of Danazol
Antigen Brand of Danazol
BPBio1_000100
BRD-K48970916-001-03-0
BSPBio_000090
Bonzol
CCRIS 6747
CHEBI:4315
CHEMBL1479
CID28417
CPD000058321
Chronogyn
Cyclomen
D00289
D003613
DB01406
Danatrol
Danazant
Danazol
Danazol (JAN/USP/INN)
Danazol [USAN:BAN:INN:JAN]
Danazol-ratiopharm
Danazole
Danazolum
Danazolum [INN-Latin]
 
Danocrine
Danocrine (TN)
Danogen
Danokrin
Danol
Danoval
Danovaol
Danzol
EINECS 241-270-1
HMS1568E12
HMS2090A22
Kendrick Brand of Danazol
LS-118524
Ladogal
MLS001066617
MLS001306473
MolPort-002-513-504
NCGC00164400-01
NCGC00179665-01
NSC 270916
NSC270916
Norciden
Panacrine
Prestwick0_000105
Prestwick1_000105
Prestwick2_000105
Prestwick3_000105
Prestwick_150
SAM002564203
SMR000058321
SPBio_002029
STOCK1N-23495
Sanofi Brand of Danazol
Sanofi Synthelabo Brand of Danazol
Sanofi Winthrop Brand of Danazol
UNII-N29QWW3BUO
WIN 17,757
WIN 17757
WIN-17757
Win 17, 757
Winobanin
ZINC03881958
[1,2]oxazolo[4',5':2,3]-17alpha-pregn-4-en-20-yn-17-ol
anatrol
danazol
ratiopharm Brand of Danazol
16
Oxandroloneapproved, investigationalPhase 11553-39-45878
Synonyms:
(1S,3aS,3bR,5aS,9aS,9bS,11aS)-1-hydroxy-1,9a,11a-trimethyl-2,3,3a,3b,4,5,5a,6,9,9b,10,11-dodecahydroindeno[4,5-h]isochromen-7-one
(4aS,4bS,6aS,7S,9aS,9bR,11aS)-7-hydroxy-4a,6a,7-trimethyltetradecahydroindeno[4,5-h]isochromen-2(1H)-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one (9CI)
17beta-Hydroxy-17-methyl-2-oxa-5alpha-androstan-3-one
17beta-Hydroxy-17alpha-methyl-2-oxa-5alpha-androstan-3-one
2-Oxa-5alpha-androstan-3-one, 17beta-hydroxy-17-methyl- (8CI)
2-Oxaandrostan-3-one, 17-hydroxy-17-methyl-, (5-alpha,17-beta)- (9CI)
53-39-4
8075 C. B
8075 C. B.
8075 C.B
8075 C.B.
8075 CB
AC-14975
AC1L1LBY
Ambap53-39-4
Anavar
C07346
C19H30O3
CHEBI:7820
CHEMBL1200436
CID5878
D00462
DB00621
Dodecahydro-3-hydroxy-6-(hydroxy-methyl)-3,3a,6-trimethyl-1H-benz(e)indene-7-acetic acid delta-lactone
EINECS 200-172-9
 
HSDB 3373
LS-98540
Lonavar
MolPort-003-986-935
NSC 67068
OXANDROLONE
Ossandrolone
Ossandrolone [DCIT]
Oxandrin
Oxandrin (TN)
Oxandrin, Anavar, Oxandrolone
Oxandrolon
Oxandrolona
Oxandrolona [INN-Spanish]
Oxandrolone
Oxandrolone (JAN/USP/INN)
Oxandrolone [USAN:INN:BAN:JAN]
Oxandrolonum
Oxandrolonum [INN-Latin]
Protivar
Provitar
S1753_Selleck
SC 11585
SC-11585
TL8003512
UNII-7H6TM3CT4L
Vasorome
ZINC03813047
17
Heparinapproved, investigational6729005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
18calcium heparin672

Interventional clinical trials:

(show top 50)    (show all 67)
idNameStatusNCT IDPhase
1Efficacy, Safety and Tolerability of a Self-Administered Subcutaneous Formulation of Icatibant for the Treatment of Acute Attacks of Hereditary AngioedemaCompletedNCT01457430Phase 4
2A Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZECompletedNCT00914966Phase 4
3Postmarketing Immunogenicity Study in HAE Subjects Treated With BerinertCompletedNCT01467947Phase 4
4A Call Center During HAE Attacks (SOS HAE)Active, not recruitingNCT01679912Phase 4
5C1-INH Compared to Placebo at the Time of Prodromal Symptoms for Hereditary Angioedema (HAE) ExacerbationWithdrawnNCT01151735Phase 4
6A Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary AngioedemaCompletedNCT01912456Phase 3
7Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) AttacksCompletedNCT00438815Phase 3
8Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary AngioedemaCompletedNCT00262301Phase 3
9Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary AngioedemaCompletedNCT00225147Phase 2, Phase 3
10Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) AttacksCompletedNCT00462709Phase 3
11A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3)CompletedNCT00912093Phase 3
12Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE)CompletedNCT00456508Phase 3
13Efficacy Study of DX-88 (Ecallantide) to Treat Acute Attacks of Hereditary Angioedema (HAE)CompletedNCT00457015Phase 3
14C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) AttacksCompletedNCT01005888Phase 3
15Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary AngioedemaCompletedNCT00097695Phase 3
16C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study)CompletedNCT00292981Phase 3
17Berinert P Study of Subcutaneous Versus Intravenous AdministrationCompletedNCT00748202Phase 3
1812-Week Safety and Efficacy Study of BCX4161 as an Oral Prophylaxis Against HAE AttacksCompletedNCT02303626Phase 2, Phase 3
19Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) AttacksCompletedNCT00168103Phase 2, Phase 3
20Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE)CompletedNCT00500656Phase 3
21Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE)CompletedNCT00262080Phase 3
22C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) AttacksCompletedNCT00289211Phase 3
23Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary AngioedemaCompletedNCT00262288Phase 2, Phase 3
24EASSI - Evaluation of the Safety of Self-Administration With IcatibantCompletedNCT00997204Phase 3
25Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE AttacksCompletedNCT01188564Phase 3
26C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) AngioedemaCompletedNCT00125151Phase 3
27C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) AngioedemaCompletedNCT00125541Phase 2, Phase 3
28Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary AngioedemaRecruitingNCT02052141Phase 3
29Study 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 AngioedemaRecruitingNCT02584959Phase 3
30Efficacy and Safety Study of DX-2930 to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAERecruitingNCT02586805Phase 3
31A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary AngioedemaActive, not recruitingNCT01386658Phase 3
32A 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
33Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary AngioedemaTerminatedNCT02670720Phase 3
34Study to Evaluate Ecallantide in Paediatric Patients With Acute Attacks of Hereditary AngioedemaWithdrawnNCT01253382Phase 2, Phase 3
35CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12CompletedNCT01095510Phase 2
36Subcutaneous CINRYZE With Recombinant Human Hyaluronidase for Prevention of Angioedema AttacksCompletedNCT01756157Phase 2
37A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous RouteCompletedNCT01576523Phase 1, Phase 2
38Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAECompletedNCT01984788Phase 2
39Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary AngioedemaCompletedNCT00261053Phase 2
40EDEMA2: Evaluation of DX-88's Effect in Mitigating AngioedemaCompletedNCT01826916Phase 2
41A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE AdministrationCompletedNCT01095497Phase 2
42Kinetics, Efficacy and Safety of C1-Esteraseremmer-NCompletedNCT00119431Phase 2
43A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human HyaluronidaseCompletedNCT01426763Phase 2
44A Study of the Safety and Immunogenicity of Repeated rhC1INH AdministrationCompletedNCT00851409Phase 2
45Efficacy and Safety Study to Evaluate Two Doses of Oral DMI-5207 in Adult Subjects With Diabetic Macular EdemaCompletedNCT02002403Phase 2
46Study to Assess the Tolerability and Safety of Ecallantide in Children and Adolescents With Hereditary AngioedemaRecruitingNCT01832896Phase 2
47Safety of Ruconest in 2-13 Year Old Hereditary Angioedema (HAE) PatientsRecruitingNCT01359969Phase 2
48A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 InhibitorActive, not recruitingNCT02247739Phase 2
49Pharmacokinetics of C1 Esterase Inhibitor in Hereditary Angioedema SubjectsCompletedNCT00432510Phase 1
50Double-Blind, Multiple Ascending Dose Study to Assess Safety, Tolerability and Pharmacokinetics of DX-2930 in Hereditary Angioedema SubjectsCompletedNCT02093923Phase 1

Search NIH Clinical Center for Hereditary Angioedema


Cochrane evidence based reviews: Angioedemas, Hereditary

Genetic Tests for Hereditary Angioedema

About this section

Genetic tests related to Hereditary Angioedema:

id Genetic test Affiliating Genes
1 Hereditary Angioedema22 SERPING1
2 Hereditary Angioneurotic Edema24

Anatomical Context for Hereditary Angioedema

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MalaCards organs/tissues related to Hereditary Angioedema:

33
Skin, Bone, Endothelial, Colon, Testes, B cells, Lung

Animal Models for Hereditary Angioedema or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Angioedema:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.7BDKRB2, C4B, KLKB1, MASP2, SERPING1

Publications for Hereditary Angioedema

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Articles related to Hereditary Angioedema:

(show top 50)    (show all 601)
idTitleAuthorsYear
1
Daily subcutaneous administration of human C1 inhibitor in a child with hereditary angioedema type 1. (26467663)
2015
2
Hereditary angioedema: A rare presentation after anterior cervical discectomy and fusion. (26396622)
2015
3
Hereditary angioedema: Molecular and clinical differences among European populations. (25258140)
2014
4
Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor. (25113305)
2014
5
Recombinant human C1-esterase inhibitor relieves symptoms of hereditary angioedema attacks: phase 3, randomized, placebo-controlled trial. (24468257)
2014
6
Depression and anxiety in patients with hereditary angioedema. (24428960)
2013
7
Hereditary angioedema: epidemiology, management, and role of icatibant. (23662043)
2013
8
The burden of illness in patients with hereditary angioedema. (24125136)
2013
9
Recent advances in hereditary angioedema self-administration treatment: summary of an International Hereditary Angioedema Expert Meeting. (23689237)
2013
10
The role of ficolins and MASPs in hereditary angioedema due to C1-inhibitor deficiency. (23318225)
2013
11
Management of hereditary angioedema in 2012: scientific and pharmacoeconomic perspectives. (23352523)
2013
12
Hereditary angioedema: not an allergy. (23248378)
2012
13
Prospective, double-blind, placebo-controlled trials of ecallantide for acute attacks of hereditary angioedema. (22149337)
2012
14
Hereditary angioedema: short-term prophylaxis for surgery. (22856630)
2012
15
Efficacy assessments in randomized controlled studies of acute therapy for hereditary angioedema. (22797816)
2012
16
Type III hereditary angioedema: defined, but not understood. (22920066)
2012
17
Successful C1 esterase inhibitor therapy in a child with a novel type 3 hereditary angioedema-like syndrome. (22626603)
2012
18
Hereditary angioedema: a survey of UK emergency departments and recommendations for management. (22008588)
2012
19
Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema. (22994404)
2012
20
Hereditary angioedema: an instructive model of clinical description, molecular discovery, and development of new effective treatments. (22195754)
2011
21
In brief: icatibant (Firazyr) for hereditary angioedema. (22113125)
2011
22
Update on preventive therapy (prophylaxis) of hereditary angioedema. (21262094)
2011
23
Evidence of impaired sense of smell in hereditary angioedema. (20649895)
2011
24
Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency. (21760740)
2011
25
Current medical management of hereditary angioedema: results from a large survey of US physicians. (21457880)
2011
26
Hereditary angioedema therapy: kallikrein inhibition and bradykinin receptor antagonism. (23282868)
2010
27
Summary and Conclusions: New Perspectives in Hereditary Angioedema: Molecular Mechanisms and Therapeutic Choices: A CME Symposium Presented at the World Allergy Congress, Buenos Aires, Argentina (December 2009). (23282869)
2010
28
Response time for ecallantide treatment of acute hereditary angioedema attacks. (21130380)
2010
29
Hereditary angioedema: three cases report, members of the same family. (24421965)
2010
30
Upper airway considerations in hereditary angioedema. (19949324)
2010
31
Delayed diagnosis of hereditary angioedema. (20531165)
2010
32
Pathogenesis and laboratory diagnosis of hereditary angioedema. (19843402)
2009
33
Icatibant for hereditary angioedema. (20135020)
2009
34
Hereditary angioedema and pregnancy. (19281571)
2009
35
Acute edema blisters in a hereditary angioedema cutaneous attack. (18680708)
2008
36
Benefits and risks of danazol in hereditary angioedema: a long-term survey of 118 patients. (18320917)
2008
37
Treatment of hereditary angioedema with plasma-derived C1 inhibitor. (19209279)
2008
38
Hereditary angioedema: new hopes for an orphan disease. (19160940)
2008
39
Hereditary angiodema: a current state-of-the-art review, IV: short- and long-term treatment of hereditary angioedema: out with the old and in with the new? (18220147)
2008
40
Hereditary angioedema associated with heterozygous factor V Leiden mutation in a patient with Purpura fulminans. (17068406)
2007
41
Anti-cholesterol antibody levels in hereditary angioedema. (18205707)
2007
42
Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema. (16617246)
2006
43
Current and future therapy for hereditary angioedema. (15596404)
2005
44
Use of recombinant plasma kallikrein inhibitor in hereditary angioedema: a case report and review of the management of the disorder. (15573358)
2004
45
Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema]. (14714307)
2003
46
Increased expression of C1-inhibitor mRNA in patients with hereditary angioedema treated with Danazol. (12706530)
2003
47
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. (11139243)
2001
48
Association of hereditary angioedema and hereditary breast cancer. (9169034)
1997
49
Hereditary angioedema. Description of a pediatric case]. (1791801)
1991
50
Allergic urticaria and hereditary angioedema. Independent association in the same patient. (6509770)
1984

Variations for Hereditary Angioedema

About this section

Clinvar genetic disease variations for Hereditary Angioedema:

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 Hereditary Angioedema

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Search GEO for disease gene expression data for Hereditary Angioedema.

Pathways for genes affiliated with Hereditary Angioedema

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Pathways related to Hereditary Angioedema according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6BDKRB2, KNG1
29.5F12, KLKB1
39.3C1S, C4B, SERPING1
49.2F12, KLKB1, SERPING1
5
Show member pathways
9.1F12, KLKB1, KNG1
6
Show member pathways
8.8F12, KLKB1, KNG1, SERPING1
7
Show member pathways
8.8F12, KLKB1, KNG1, SERPING1
88.8C1S, C4B, MASP2
9
Show member pathways
8.2C1S, C4B, FCN3, MASP2
10
Show member pathways
7.9C1S, C4B, FCN3, MASP2, SERPING1
11
Show member pathways
6.6BDKRB2, C1S, C4B, F12, KLKB1, KNG1

GO Terms for genes affiliated with Hereditary Angioedema

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:003109310.3KNG1, SERPING1
2blood microparticleGO:00725628.9C1S, C4B, FCN3, KNG1, SERPING1
3extracellular spaceGO:00056158.0C4B, F12, KLKB1, KNG1, SERPING1
4extracellular exosomeGO:00700627.1C1S, C4B, F12, KLKB1, KNG1, MASP2
5extracellular regionGO:00055766.4C1S, C4B, F12, FCN3, KLKB1, KNG1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of blood coagulationGO:003019310.3F12, SERPING1
2smooth muscle contractionGO:000693910.3BDKRB2, KNG1
3platelet degranulationGO:000257610.3KNG1, SERPING1
4Factor XII activationGO:000254210.3F12, KLKB1
5zymogen activationGO:003163810.2F12, KLKB1
6positive regulation of fibrinolysisGO:005191910.2F12, KLKB1
7vasodilationGO:004231110.1BDKRB2, KNG1
8blood circulationGO:000801510.1BDKRB2, SERPING1
9fibrinolysisGO:00427309.8F12, KLKB1, SERPING1
10complement activation, lectin pathwayGO:00018679.8FCN3, MASP2
11inflammatory responseGO:00069549.5BDKRB2, C4B, KNG1
12negative regulation of endopeptidase activityGO:00109519.5C4B, KNG1, SERPING1
13blood coagulation, intrinsic pathwayGO:00075979.4F12, KLKB1, KNG1, SERPING1
14complement activation, classical pathwayGO:00069588.9C1S, C4B, MASP2, SERPING1
15blood coagulationGO:00075968.8F12, KLKB1, KNG1, SERPING1
16complement activationGO:00069568.8C1S, C4B, FCN3, MASP2
17proteolysisGO:00065088.5C1S, F12, KLKB1, MASP2
18innate immune responseGO:00450877.6C1S, C4B, F12, FCN3, MASP2, SERPING1

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042528.3C1S, F12, KLKB1, MASP2

Sources for Hereditary Angioedema

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