MCID: THR104
MIFTS: 50

Thrombophilia Due to Antithrombin Iii Deficiency malady

Categories: Genetic diseases, Bone diseases, Blood diseases, Rare diseases

Aliases & Classifications for Thrombophilia Due to Antithrombin Iii Deficiency

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Aliases & Descriptions for Thrombophilia Due to Antithrombin Iii Deficiency:

Name: Thrombophilia Due to Antithrombin Iii Deficiency 50 12
Antithrombin Iii Deficiency 50 11 13 68 48 37 66
Hereditary Thrombophilia Due to Congenital Antithrombin Deficiency 11 52
Antithrombin-Iii Deficiency 23 68
Antithrombin 3 Deficiency 68 25
Hereditary Thrombophilia Due to Congenital Antithrombin 3 Deficiency 52
Thrombophilia Due to Antithrombin-Iii Deficiency 68
 
Antithrombin Deficiency 68
at Iii Deficiency 11
at-Iii Deficiency 68
Antithrombin Iii 12
Thph7 68
At3d 68

Characteristics:

HPO:

62
thrombophilia due to antithrombin iii deficiency:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 613118
Disease Ontology11 DOID:3755
ICD1028 D68.59
MeSH37 D020152
SNOMED-CT60 36351005
NCIt43 C98815
Orphanet52 ORPHA82
ICD10 via Orphanet29 D68.5
MedGen35 C0272375

Summaries for Thrombophilia Due to Antithrombin Iii Deficiency

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OMIM:50 Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. Two categories of AT-III... (613118) more...

MalaCards based summary: Thrombophilia Due to Antithrombin Iii Deficiency, also known as antithrombin iii deficiency, is related to thrombophilia due to thrombin defect and hereditary antithrombin deficiency, and has symptoms including reduced antithrombin iii activity, pulmonary embolism and deep venous thrombosis. An important gene associated with Thrombophilia Due to Antithrombin Iii Deficiency is SERPINC1 (Serpin Family C Member 1), and among its related pathways are Selenium Pathway and Collagen biosynthesis and modifying enzymes. The drugs antithrombin iii, human and antithrombin iii,recombinant have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and bone, and related mouse phenotypes are homeostasis/metabolism and mortality/aging.

Disease Ontology:11 An inherited blood coagulation disease characterized by the tendency to form clots in the veins.

UniProtKB/Swiss-Prot:68 Antithrombin III deficiency: An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations.

Wikipedia:69 Antithrombin (AT) is a small protein molecule that inactivates several enzymes of the coagulation... more...

Related Diseases for Thrombophilia Due to Antithrombin Iii Deficiency

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Diseases related to Thrombophilia Due to Antithrombin Iii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia due to thrombin defect28.6APOH, F2, F5, SERPINC1
2hereditary antithrombin deficiency11.4
3hepatic fibrosis renal cysts mental retardation10.4F5, SERPINC1
4michels caskey syndrome10.3F5, MTHFR
5congenital stenosis of the inferior vena cava10.3F5, MTHFR
6ameloblastic carcinoma10.3F5, MTHFR
7ariboflavinosis10.2F2, SERPINC1
8myiasis10.2F2, SERPINC1
9cavernous hemangioma of face10.2F2, SERPINC1
10marek disease10.2F2, SERPINC1
11ovarian gonadoblastoma10.2F2, SERPINC1
12milk allergy10.2F2, SERPINC1
13urinary bladder cancer10.2F5, MTHFR
14spleen cancer10.2F2, SERPINC1
15dmd-related dilated cardiomyopathy10.2F2, SERPINC1
16lateral cystocele10.2F2, SERPINC1
17posterolateral myocardial infarction10.2F2, SERPINC1
18facial hemiatrophy10.2F2, SERPINC1
19lujo hemorrhagic fever10.2F2, SERPINC1
20bartholin's gland adenoma10.2F2, F5
21perichondritis of auricle10.2F2, SERPINC1
22tympanosclerosis10.1F2, F5
23rasa1-related disorders10.1F2, MTHFR
24facioscapulohumeral muscular dystrophy 110.1F2, F5
25typhoid fever10.1F2, MTHFR
26schizencephaly10.1F5, MTHFR
27west nile fever10.1F2, F5
28anterior foramen magnum meningioma10.1F2, SERPINC1
29idiopathic central precocious puberty10.1F2, F5
30infantile-onset ascending hereditary spastic paralysis10.1F2, F5
31irak4 deficiency10.1F2, F5
32platelet storage pool deficiency10.0F2, SERPINC1
33coenzyme q cytochrome c reductase deficiency of10.0APOH, F5
34focal epilepsy10.0F2, SERPINC1
35onychocytic matricoma10.0APOH, F5
36psychosexual disorder10.0F2, MTHFR
37angina pectoris10.0F2, SERPINC1
38jumping frenchmen of maine10.0F2, F5
39tyrosinemia9.9MTHFR, SERPINC1
40childhood central nervous system germinoma9.9APOH, F5
41complex regional pain syndrome9.8APOH, MTHFR
42spinocerebellar ataxia 279.8F2, F5, SERPINC1
43lymphedema9.8F2, SERPINC1
44cholesterol embolism9.8APOH, F2
45hypertensive heart disease9.8F2, MTHFR, SERPINC1
46lymphatic system cancer9.8F2, MTHFR, SERPINC1
47histoplasmosis9.8F2, MTHFR, SERPINC1
48dermatitis9.8F2, MTHFR, SERPINC1
49thalassemia-beta, dominant inclusion-body9.8F2, MTHFR
50alpha-2-plasmin inhibitor deficiency9.8F2, MTHFR, SERPINC1

Graphical network of the top 20 diseases related to Thrombophilia Due to Antithrombin Iii Deficiency:



Diseases related to thrombophilia due to antithrombin iii deficiency

Symptoms for Thrombophilia Due to Antithrombin Iii Deficiency

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Symptoms by clinical synopsis from OMIM:

613118

Clinical features from OMIM:

613118

HPO human phenotypes related to Thrombophilia Due to Antithrombin Iii Deficiency:

id Description Frequency HPO Source Accession
1 reduced antithrombin iii activity HP:0001976
2 pulmonary embolism HP:0002204
3 deep venous thrombosis HP:0002625
4 cerebral venous thrombosis HP:0005305

Drugs & Therapeutics for Thrombophilia Due to Antithrombin Iii Deficiency

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Drugs for Thrombophilia Due to Antithrombin Iii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BenzocainePhase 4, Phase 317941994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
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
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
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]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
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
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
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
2
protease inhibitorsPhase 4, Phase 3, Phase 2, Phase 15157
Synonyms:
 
protease inhibitors
3calcium heparinPhase 4, Phase 2779
4
HeparinPhase 4, Phase 27799005-49-6772, 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
Unfractionated heparin
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
5
DalteparinPhase 42899041-08-1
Synonyms:
Daltepariininatrium
Dalteparin Sodyum
Dalteparin sodium
Dalteparin sodná sůl
Dalteparin-nátrium
Dalteparina sódica
 
Dalteparinnatrium
Dalteparino natrio druska
Dalteparinum Natricum
Dalteparyna sodowa
Daltéparine sodique
Heparin Fragment KABI 2165
Tedelparin
6tannic acidNutraceuticalPhase 4, Phase 31794
7serineNutraceuticalPhase 4, Phase 3, Phase 2, Phase 1883
8THROMBINPhase 2, Phase 3284
9EdoxabanPhase 241480449-70-5
10FACTOR VIII282
11fondaparinux80
12
Sulfamethazine9357-68-15327
Synonyms:
(P-Aminobenzolsulfonyl)-2-amino-4,6-dimethylpyrimidin
(p-Aminobenzolsulfonyl)-2-amino-4,6-dimethylpyrimidin
(p-Aminobenzolsulfonyl)-2-amino-4,6-dimethylpyrimidin [German]
00189_FLUKA
2-(4-Aminobenzenesulfonamido)-4,6-dimethylpyrimidine
2-(P-Aminobenzenesulfonamido)-4,6-dimethylpyrimidine
2-(p-Aminobenzenesulfonamido)-4,6-dimethylpyrimidine
2-Sulfanilamido-4,6-dimethylpyrimidine
4,6-Dimethyl-2-sulfanilamidopyrimidine
4,6-Dimethylsulfadiazine
4-Amino-N- [4,6-dimethyl-2-pyrimidinyl]- benzenesulfonamide
4-Amino-N-(2,6-dimethyl-4-pyrimidinyl)benzenesulfonamide
4-Amino-N-(4,6-dimethyl-2-pyrimidinyl)benzenesulfonamide
4-Amino-N-(4,6-dimethyl-2-pyrimidyl)benzenesulfonamide
4-Amino-N-(4,6-dimethyl-pyrimidin-2-yl)-benzenesulfonamide
4-amino-N-(4,6-Dimethylpyrimidin-2-yl)benzenesulfonamide
4-amino-N-(4,6-dimethylpyrimidin-2-yl)benzene-1-sulfonamide
4-amino-N-(4,6-dimethylpyrimidin-2-yl)benzenesulfonamide
46802_FLUKA
46802_RIEDEL
5-25-10-00250 (Beilstein Handbook Reference)
57-68-1
6-(4'-Aminobenzol-sulfonamido)-2,4-dimethylpyrimidin
6-(4'-Aminobenzol-sulfonamido)-2,4-dimethylpyrimidin [German]
A-502
AC-16126
AC1L1K3W
AC1Q2ID9
AI3-26817
AKOS000119894
ARONIS018080
Azolmetazin
BIDD:PXR0093
BN 2409
BPBio1_000936
BRD-K11640013-001-02-6
BRD-K11640013-236-03-6
BRN 0261304
BSPBio_000850
BSPBio_003260
Bio-0716
CBDivE_012932
CCRIS 3701
CHEBI:102265
CHEMBL446
CID5327
Calfspan Tablets
Cremomethazine
D013418
D02436
DB01582
Diazil
Diazil (the sulfanilamide)
Dimezathine
Dimidin-R
DivK1c_000293
EINECS 200-346-4
HC210279
HMS1921A17
HMS2092I19
HMS500O15
HSDB 4157
Hava-Span
IDI1_000293
Intradine
KBio1_000293
KBio2_001470
KBio2_004038
KBio2_006606
KBio3_002480
KBioGR_000747
KBioSS_001470
Kelametazine
LS-232
MLS000069711
MLS000103403
MLS001077331
MLS002454449
Mermeth
MolPort-000-887-465
N(1)-(4,6-Dimethyl-2-pyrimidinyl)sulfanilamide
N(1)-(4,6-Dimethyl-2-pyrimidyl)sulfanilamide
N(Sup1)-(4,6-Dimethyl-2-pyrimidinyl)sulfanilamide
N(Sup1)-(4,6-Dimethyl-2-pyrimidyl)sulfanilamide
N(sup 1)-(4,6-Dimethyl-2-pyrimidinyl)sulfanilamide
N(sup 1)-(4,6-Dimethyl-2-pyrimidyl)sulfanilamide
 
N-(4,6-Dimethyl-2-pyrimidyl)sulfanilamide
NCGC00018243-01
NCGC00021490-03
NCGC00021490-04
NCGC00021490-05
NCGC00021490-06
NCI-C56600
NCIOpen2_003489
NINDS_000293
NSC 67457
NSC67457
NSC683529
Neasina
Neazina
Oprea1_142608
Oprea1_677935
Pirmazin
Prestwick0_000775
Prestwick1_000775
Prestwick2_000775
Prestwick3_000775
Primazin
S0586
S6256_SIGMA
SMR000017409
SMZ
SPBio_001441
SPBio_002789
SPECTRUM1500548
STK097514
Sa III
Solfadimidina
Solfadimidina [DCIT]
Spanbolet
Spectrum2_001321
Spectrum3_001700
Spectrum4_000344
Spectrum5_001270
Spectrum_000990
Sulfa-Isodimerazine
SulfaSURE SR Bolus
Sulfadimerazine
Sulfadimesin
Sulfadimesine
Sulfadimethyldiazine
Sulfadimethylpyrimidine
Sulfadimezin
Sulfadimezine
Sulfadimezinum
Sulfadimidin
Sulfadimidina
Sulfadimidina [INN-Spanish]
Sulfadimidine
Sulfadimidine (INN)
Sulfadimidine [INN:BAN]
Sulfadimidine solution
Sulfadimidinum
Sulfadimidinum [INN-Latin]
Sulfadine
Sulfametazina
Sulfametazina [Italian]
Sulfametazyny
Sulfametazyny [Polish]
Sulfamethazine (USP)
Sulfamethazine solution
Sulfamethiazine
Sulfamezathine
Sulfamezathine (TN)
Sulfodimesin
Sulfodimezine
Sulka S Boluses
Sulphadimethylpyrimidine
Sulphadimidine
Sulphamethasine
Sulphamethazine
Sulphamezathine
Sulphamidine
Sulphodimezine
Superseptil
Superseptyl
UNII-48U51W007F
Vertolan
WLN: T6N CNJ BMSWR DZ& D1 F1
ZINC00057494
[(4-Aminophenyl)sulfonyl](4,6-dimethylpyrimidin-2-yl)amine
n(sup1)-(2,6-Dimethylpyrimid-4-yl)sulfanilamide
sulfamethazine

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Atenativ Effect on Uterine Blood Flow and PreeclampsiaRecruitingNCT02278575Phase 4
2Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients.RecruitingNCT01970280Phase 4
3Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac SurgeryTerminatedNCT01547728Phase 4
4Pharmacokinetic Study of Recombinant AT III in Neonates Undergoing ECMOWithdrawnNCT01913444Phase 4
5Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or DeliveryCompletedNCT00110513Phase 3
6Assess Incidence of Deep Vein Thrombosis(DVT)Following Administration of Recombinant Human Antithrombin (rhAT) to Hereditary Antithrombin(AT) Deficient Patients in High Risk Situations.CompletedNCT00056550Phase 3
7Safety, Pharmacokinetics and Efficacy of an AT-III Concentrate.RecruitingNCT00319228Phase 2, Phase 3
8Use of Antithrombin in Cardiac Surgery With Cardiopulmonary BypassCompletedNCT00823082Phase 2
9Targeted Anticoagulation Therapy to Reduce Inflammation and Cellular Activation in Long-term HIV DiseaseRecruitingNCT02339415Phase 2
10Anti-thrombin III (ATIII) vs Placebo in Children (<7mo) Undergoing Open Congenital Cardiac SurgeryActive, not recruitingNCT02103114Phase 2
11A Study of KW-3357 in Congenital Antithrombin DeficiencyCompletedNCT00938288Phase 1
12Evaluation Of The Pharmacokinetics Of Antithrombin III In Neonates And Infants Undergoing CPB And ECMO SupportRecruitingNCT02631174Phase 1
13Tissue Factor Pathway Inhibitor (TFPI) and Haemorrhagic Manifestations in Haemophilia A and B PatientsCompletedNCT02540187
14"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"RecruitingNCT02503267
15Prevention of Thrombosis Recurrence in Patients With Low Circulating Levels of Antithrombin.RecruitingNCT01382550
16Effects of Combined Resistance and Aerobic Training vs Aerobic Training on Cognition and Mobility Following StrokeActive, not recruitingNCT01712724

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Inferred drug relations via UMLS66/NDF-RT44:

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Cochrane evidence based reviews: antithrombin iii deficiency

Genetic Tests for Thrombophilia Due to Antithrombin Iii Deficiency

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Genetic tests related to Thrombophilia Due to Antithrombin Iii Deficiency:

id Genetic test Affiliating Genes
1 Antithrombin Iii Deficiency25
2 Antithrombin-Iii Deficiency23 SERPINC1

Anatomical Context for Thrombophilia Due to Antithrombin Iii Deficiency

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MalaCards organs/tissues related to Thrombophilia Due to Antithrombin Iii Deficiency:

34
Liver, Heart, Bone

Animal Models for Thrombophilia Due to Antithrombin Iii Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Thrombophilia Due to Antithrombin Iii Deficiency:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.1APOH, F2, F5, MTHFR, SERPINC1, SERPIND1
2MP:00107686.8APOH, F2, F5, MTHFR, SERPINC1, SERPIND1

Publications for Thrombophilia Due to Antithrombin Iii Deficiency

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Variations for Thrombophilia Due to Antithrombin Iii Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Antithrombin Iii Deficiency:

68 (show all 84)
id Symbol AA change Variation ID SNP ID
1SERPINC1p.Ile39AsnVAR_007033rs28929468
2SERPINC1p.Arg56CysVAR_007035rs28929469
3SERPINC1p.Pro73LeuVAR_007036rs121909551
4SERPINC1p.Arg79CysVAR_007037rs121909547
5SERPINC1p.Arg79HisVAR_007038rs121909552
6SERPINC1p.Arg79SerVAR_007039rs121909547
7SERPINC1p.Arg89CysVAR_007041rs147266200
8SERPINC1p.Phe90LeuVAR_007042
9SERPINC1p.Pro112ThrVAR_007044
10SERPINC1p.Leu131PheVAR_007045rs121909567
11SERPINC1p.Leu131ValVAR_007046
12SERPINC1p.Gln133LysVAR_007047
13SERPINC1p.Ser148ProVAR_007049rs121909569
14SERPINC1p.Gln150ProVAR_007050rs765445413
15SERPINC1p.His152TyrVAR_007051
16SERPINC1p.Leu158ProVAR_007053
17SERPINC1p.Arg161GlnVAR_007054rs121909563
18SERPINC1p.Tyr198CysVAR_007056
19SERPINC1p.Ser214TyrVAR_007057rs483352854
20SERPINC1p.Asn219LysVAR_007058
21SERPINC1p.Asn219AspVAR_007059rs121909571
22SERPINC1p.Glu269LysVAR_007060rs758087836
23SERPINC1p.Met283IleVAR_007062
24SERPINC1p.Leu302ProVAR_007063
25SERPINC1p.Ile316AsnVAR_007064
26SERPINC1p.Glu334LysVAR_007065
27SERPINC1p.Ser381ProVAR_007067rs121909565
28SERPINC1p.Ala414ThrVAR_007069rs121909557
29SERPINC1p.Ala416ProVAR_007070rs28930978
30SERPINC1p.Ala416SerVAR_007071rs121909548
31SERPINC1p.Ala419ValVAR_007072rs121909568
32SERPINC1p.Gly424AspVAR_007073rs121909566
33SERPINC1p.Arg425HisVAR_007074rs121909549
34SERPINC1p.Arg425CysVAR_007075rs121909554
35SERPINC1p.Arg425ProVAR_007076rs121909549
36SERPINC1p.Ser426LeuVAR_007077rs121909550
37SERPINC1p.Phe434CysVAR_007078
38SERPINC1p.Phe434SerVAR_007079
39SERPINC1p.Phe434LeuVAR_007080
40SERPINC1p.Ala436ThrVAR_007081rs121909546
41SERPINC1p.Asn437LysVAR_007082
42SERPINC1p.Arg438MetVAR_007083
43SERPINC1p.Pro439LeuVAR_007084rs121909555
44SERPINC1p.Pro439ThrVAR_007085
45SERPINC1p.Ile453ThrVAR_007086
46SERPINC1p.Gly456ArgVAR_007087
47SERPINC1p.Arg457ThrVAR_007088
48SERPINC1p.Ala459AspVAR_007090
49SERPINC1p.Pro461LeuVAR_007091rs121909564
50SERPINC1p.Cys462PheVAR_007092
51SERPINC1p.Arg438GlyVAR_009258
52SERPINC1p.Tyr95SerVAR_012316
53SERPINC1p.Leu23ProVAR_012748rs387906575
54SERPINC1p.Tyr17SerVAR_027450
55SERPINC1p.Cys32ArgVAR_027451
56SERPINC1p.Tyr95CysVAR_027452
57SERPINC1p.Leu98ProVAR_027453
58SERPINC1p.Met121LysVAR_027454
59SERPINC1p.Cys127ArgVAR_027455rs121909573
60SERPINC1p.Lys146GluVAR_027456
61SERPINC1p.Cys160TyrVAR_027457
62SERPINC1p.Leu178HisVAR_027458
63SERPINC1p.Phe179LeuVAR_027459
64SERPINC1p.Tyr198HisVAR_027460
65SERPINC1p.Ser214PheVAR_027461
66SERPINC1p.Ser223ProVAR_027463rs121909572
67SERPINC1p.Thr243IleVAR_027464
68SERPINC1p.Ile251ThrVAR_027465
69SERPINC1p.Trp257ArgVAR_027466
70SERPINC1p.Phe261LeuVAR_027467
71SERPINC1p.Met283ValVAR_027468
72SERPINC1p.Ser323ProVAR_027469
73SERPINC1p.Ser397ProVAR_027470
74SERPINC1p.Asp398HisVAR_027471
75SERPINC1p.Ser412ArgVAR_027472
76SERPINC1p.Leu441ProVAR_027473
77SERPINC1p.Cys53PheVAR_071199
78SERPINC1p.Gly125AspVAR_071200
79SERPINC1p.Ser170ProVAR_071201
80SERPINC1p.Ile218AsnVAR_071202
81SERPINC1p.Val248GlyVAR_071203
82SERPINC1p.Arg293ProVAR_071204
83SERPINC1p.His401ArgVAR_071205
84SERPINC1p.Pro439AlaVAR_071206

Clinvar genetic disease variations for Thrombophilia Due to Antithrombin Iii Deficiency:

5 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1SERPINC1NM_000488.3(SERPINC1): c.1306G> A (p.Ala436Thr)single nucleotide variantPathogenicrs121909546GRCh37Chr 1, 173873116: 173873116
2SERPINC1NM_000488.3(SERPINC1): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs121909547GRCh37Chr 1, 173883864: 173883864
3SERPINC1SERPINC1undetermined variantPathogenic
4SERPINC1SERPINC1undetermined variantPathogenic
5SERPINC1NM_000488.3(SERPINC1): c.1246G> C (p.Ala416Pro)single nucleotide variantPathogenicrs121909548GRCh37Chr 1, 173873176: 173873176
6SERPINC1SERPINC1undetermined variantPathogenic
7SERPINC1NM_000488.3(SERPINC1): c.1274G> C (p.Arg425Pro)single nucleotide variantPathogenicrs121909549GRCh37Chr 1, 173873148: 173873148
8SERPINC1NM_000488.3(SERPINC1): c.1277C> T (p.Ser426Leu)single nucleotide variantPathogenicrs121909550GRCh37Chr 1, 173873145: 173873145
9SERPINC1NM_000488.3(SERPINC1): c.89T> A (p.Val30Glu)single nucleotide variantPathogenicrs2227624GRCh37Chr 1, 173884010: 173884010
10SERPINC1SERPINC1undetermined variantPathogenic
11SERPINC1NM_000488.3(SERPINC1): c.236G> A (p.Arg79His)single nucleotide variantPathogenicrs121909552GRCh37Chr 1, 173883863: 173883863
12SERPINC1NM_000488.3(SERPINC1): c.235C> A (p.Arg79Ser)single nucleotide variantPathogenicrs121909547GRCh37Chr 1, 173883864: 173883864
13SERPINC1NM_000488.3(SERPINC1): c.1273C> T (p.Arg425Cys)single nucleotide variantPathogenicrs121909554GRCh37Chr 1, 173873149: 173873149
14SERPINC1NM_000488.3(SERPINC1): c.1316C> T (p.Pro439Leu)single nucleotide variantPathogenicrs121909555GRCh37Chr 1, 173873106: 173873106
15SERPINC1NM_000488.3(SERPINC1): c.1274G> A (p.Arg425His)single nucleotide variantPathogenicrs121909549GRCh37Chr 1, 173873148: 173873148
16SERPINC1NM_000488.3(SERPINC1): c.1240G> A (p.Ala414Thr)single nucleotide variantPathogenicrs121909557GRCh37Chr 1, 173873182: 173873182
17SERPINC1NM_000488.3(SERPINC1): c.116T> A (p.Ile39Asn)single nucleotide variantPathogenicrs121909558GRCh37Chr 1, 173883983: 173883983
18SERPINC1NM_000488.3(SERPINC1): c.166C> T (p.Arg56Cys)single nucleotide variantPathogenicrs28929469GRCh37Chr 1, 173883933: 173883933
19SERPINC1NM_000488.3(SERPINC1): c.1246G> T (p.Ala416Ser)single nucleotide variantPathogenicrs121909548GRCh37Chr 1, 173873176: 173873176
20SERPINC1SERPINC1, 1-BP DEL, AdeletionPathogenic
21SERPINC1SERPINC1, 2-BP DEL, AGdeletionPathogenic
22SERPINC1SERPINC1, 1-BP INS, 780AinsertionPathogenic
23SERPINC1NM_000488.3(SERPINC1): c.967_968delAG (p.Ser323Profs)deletionPathogenicrs121909560GRCh37Chr 1, 173878875: 173878876
24SERPINC1NM_000488.3(SERPINC1): c.1021_1024delGATG (p.Asp341Asnfs)deletionPathogenicrs121909561GRCh37Chr 1, 173878819: 173878822
25SERPINC1NM_000488.3(SERPINC1): c.481C> T (p.Arg161Ter)single nucleotide variantPathogenicrs121909562GRCh37Chr 1, 173881080: 173881080
26SERPINC1NM_000488.3(SERPINC1): c.482G> A (p.Arg161Gln)single nucleotide variantPathogenicrs121909563GRCh37Chr 1, 173881079: 173881079
27SERPINC1NM_000488.3(SERPINC1): c.1382C> T (p.Pro461Leu)single nucleotide variantPathogenicrs121909564GRCh37Chr 1, 173873040: 173873040
28SERPINC1NM_000488.3(SERPINC1): c.1141T> C (p.Ser381Pro)single nucleotide variantPathogenicrs121909565GRCh37Chr 1, 173878702: 173878702
29SERPINC1NM_000488.3(SERPINC1): c.1271G> A (p.Gly424Asp)single nucleotide variantPathogenicrs121909566GRCh37Chr 1, 173873151: 173873151
30SERPINC1NM_000488.3(SERPINC1): c.391C> T (p.Leu131Phe)single nucleotide variantPathogenicrs121909567GRCh37Chr 1, 173883708: 173883708
31SERPINC1SERPINC1, 1-BP INS, T, CODON 48insertionPathogenic
32SERPINC1SERPINC1, 1-BP INS, A, CODON 208insertionPathogenic
33SERPINC1SERPINC1, 1-BP DEL, A, CODON 370deletionPathogenic
34SERPINC1NM_000488.3(SERPINC1): c.1256C> T (p.Ala419Val)single nucleotide variantPathogenicrs121909568GRCh37Chr 1, 173873166: 173873166
35SERPINC1NM_000488.3(SERPINC1): c.442T> C (p.Ser148Pro)single nucleotide variantPathogenicrs121909569GRCh37Chr 1, 173881119: 173881119
36SERPINC1NM_000488.3(SERPINC1): c.68T> C (p.Leu23Pro)single nucleotide variantPathogenicrs387906575GRCh37Chr 1, 173884031: 173884031
37SERPINC1NM_000488.3(SERPINC1): c.500A> C (p.Asn167Thr)single nucleotide variantPathogenicrs121909570GRCh37Chr 1, 173881061: 173881061
38SERPINC1NM_000488.3(SERPINC1): c.655A> G (p.Asn219Asp)single nucleotide variantPathogenicrs121909571GRCh37Chr 1, 173879999: 173879999
39SERPINC1NM_000488.3(SERPINC1): c.667T> C (p.Ser223Pro)single nucleotide variantPathogenicrs121909572GRCh37Chr 1, 173879987: 173879987
40SERPINC1NM_000488.3(SERPINC1): c.379T> C (p.Cys127Arg)single nucleotide variantPathogenicrs121909573GRCh37Chr 1, 173883720: 173883720
41SERPINC1SERPINC1, 3-BP DELdeletionPathogenic
42SERPINC1SERPINC1, 9-BP DEL, NT13395deletionPathogenic
43SERPINC1NM_000488.3(SERPINC1): c.462_464delCTT (p.Phe155del)deletionPathogenicrs786204063GRCh38Chr 1, 173911959: 173911961
44SERPINC1NM_000488.3(SERPINC1): c.1060delC (p.Arg354Alafs)deletionPathogenicrs863224495GRCh37Chr 1, 173878783: 173878783

Expression for genes affiliated with Thrombophilia Due to Antithrombin Iii Deficiency

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Search GEO for disease gene expression data for Thrombophilia Due to Antithrombin Iii Deficiency.

Pathways for genes affiliated with Thrombophilia Due to Antithrombin Iii Deficiency

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GO Terms for genes affiliated with Thrombophilia Due to Antithrombin Iii Deficiency

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Cellular components related to Thrombophilia Due to Antithrombin Iii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.6APOH, F2, F5, SERPINC1, SERPIND1
2extracellular regionGO:00055767.3APOH, F2, F5, SERPINC1, SERPIND1

Biological processes related to Thrombophilia Due to Antithrombin Iii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood circulationGO:00080159.6F5, MTHFR
2blood coagulation, intrinsic pathwayGO:00075979.4APOH, F2
3regulation of blood coagulationGO:00301939.4APOH, F2
4negative regulation of fibrinolysisGO:00519189.3APOH, F2
5positive regulation of blood coagulationGO:00301949.2APOH, F2
6blood coagulationGO:00075968.5F2, F5, SERPINC1, SERPIND1

Molecular functions related to Thrombophilia Due to Antithrombin Iii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:00048679.7SERPINC1, SERPIND1
2heparin bindingGO:00082018.7APOH, SERPINC1, SERPIND1

Sources for Thrombophilia Due to Antithrombin Iii Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet