AT3D
MCID: ANT009
MIFTS: 58

Antithrombin Iii Deficiency (AT3D)

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

Aliases & Classifications for Antithrombin Iii Deficiency

MalaCards integrated aliases for Antithrombin Iii Deficiency:

Name: Antithrombin Iii Deficiency 57 12 75 37 29 55 6 44 15 40 73
Hereditary Thrombophilia Due to Congenital Antithrombin Deficiency 12 59
Thrombophilia Due to Antithrombin Iii Deficiency 57 13
Antithrombin Deficiency 75 6
Thph7 57 75
At3d 57 75
Hereditary Thrombophilia Due to Congenital Antithrombin 3 Deficiency 59
Thrombophilia Due to Antithrombin Iii Deficiency; Thph7 57
Thrombophilia Due to Antithrombin-Iii Deficiency 75
Antithrombin-Iii Deficiency 75
Antithrombin 3 Deficiency 75
at Iii Deficiency 12
at-Iii Deficiency 75
Antithrombin Iii 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant


HPO:

32
antithrombin iii deficiency:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613118
Disease Ontology 12 DOID:3755
ICD10 33 D68.59
MeSH 44 D020152
NCIt 50 C98815
SNOMED-CT 68 36351005
Orphanet 59 ORPHA82
ICD10 via Orphanet 34 D68.5
MedGen 42 C0272375
KEGG 37 H01381
UMLS 73 C0272375

Summaries for Antithrombin Iii Deficiency

OMIM : 57 Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. Two categories of AT-III deficiency have been defined on the basis of AT-III antigen levels in the plasma of affected individuals. The majority of AT-III deficiency families belong in the type I (classic) deficiency group and have a quantitatively abnormal phenotype in which antigen and heparin cofactor levels are both reduced to about 50% of normal. The second category of AT-III deficiency has been termed type II (functional) deficiency. Affected individuals from these kindreds produce dysfunctional AT-III molecules; they have reduced heparin cofactor activity levels (about 50% of normal) but levels of AT-III antigen are often normal or nearly normal (summary by Bock and Prochownik, 1987). The 2 categories of antithrombmin III deficiency have been classified further. Type I (low functional and immunologic antithrombin) has been subdivided into subtype Ia (reduced levels of normal antithrombin), and type Ib (reduced levels of antithrombin and the presence of low levels of a variant). Type II (low functional but normal immunologic antithrombin) has been subdivided into subtype IIa (functional abnormalities affecting both the reactive site and the heparin-binding site of AT3); subtype IIb (functional abnormalities limited to the reactive site); and subtype IIc (functional abnormalities limited to the heparin-binding site) (summary by Lane et al., 1992). (613118)

MalaCards based summary : Antithrombin Iii Deficiency, also known as hereditary thrombophilia due to congenital antithrombin deficiency, is related to budd-chiari syndrome and acute liver failure. An important gene associated with Antithrombin Iii Deficiency is SERPINC1 (Serpin Family C Member 1), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Enoxaparin and Heparin have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and lung, and related phenotypes are pulmonary embolism and deep venous thrombosis

Disease Ontology : 12 An inherited blood coagulation disease characterized by the tendency to form clots in the veins.

UniProtKB/Swiss-Prot : 75 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 : 76 Antithrombin III deficiency (abbreviated ATIII deficiency) is a deficiency of antithrombin III. This... more...

Related Diseases for Antithrombin Iii Deficiency

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

(show top 50) (show all 218)
# Related Disease Score Top Affiliating Genes
1 budd-chiari syndrome 31.7 APOH F2 F5 MTHFR SERPINC1
2 acute liver failure 30.4 F2 F5
3 thrombosis 30.0 APOH F10 F2 F5 MTHFR SERPINC1
4 purpura fulminans 29.9 F2 SERPINC1
5 meningococcemia 29.9 F5 SERPINC1
6 von willebrand's disease 29.8 F2 F5
7 hemorrhagic fever 29.8 F2 SERPINC1
8 hypersplenism 29.8 F2 SERPINC1
9 sagittal sinus thrombosis 29.8 F2 F5 SERPINC1
10 heparin-induced thrombocytopenia 29.8 F10 SERPINC1
11 disseminated intravascular coagulation 29.8 F2 F5 SERPINC1
12 purpura 29.7 APOH F2 SERPINC1
13 thrombophilia due to thrombin defect 29.6 APOH F10 F2 F5 MTHFR SERPINC1
14 factor xii deficiency 29.6 APOH F5 SERPINC1
15 factor vii deficiency 29.6 F10 F2
16 eclampsia 29.6 F2 MTHFR SERPINC1
17 osteonecrosis 29.6 F2 MTHFR SERPINC1
18 afibrinogenemia 29.5 F10 F2 F5
19 coronary artery anomaly 29.4 F2 F5
20 intracranial thrombosis 29.4 APOH F5 MTHFR SERPINC1
21 homocystinuria 29.4 F5 MTHFR SERPINC1
22 portal vein thrombosis 29.4 APOH F2 F5 MTHFR SERPINC1
23 cerebrovascular disease 29.4 F2 F5 MTHFR
24 pulmonary embolism 29.3 APOH F10 F2 F5 MTHFR SERPINC1
25 protein c deficiency 29.3 F2 F5 MTHFR SERPINC1
26 livedoid vasculitis 29.3 APOH F2 MTHFR SERPINC1
27 retinal vein occlusion 29.3 APOH F2 F5 MTHFR SERPINC1
28 stroke, ischemic 29.3 APOH F2 F5 MTHFR SERPINC1
29 myocardial infarction 29.2 F10 F2 F5 MTHFR SERPINC1
30 antiphospholipid syndrome 29.1 APOH F10 F2 F5 MTHFR SERPINC1
31 thrombophilia 29.1 APOH F2 F5 MTHFR SERPINC1
32 thrombophlebitis 29.0 APOH F2 F5 MTHFR SERPINC1
33 central retinal vein occlusion 29.0 APOH F2 F5 MTHFR SERPINC1
34 protein s deficiency 29.0 APOH F2 F5 MTHFR SERPINC1
35 pre-eclampsia 29.0 APOH F2 F5 MTHFR SERPINC1
36 placental abruption 28.9 APOH F2 F5 MTHFR SERPINC1
37 patent foramen ovale 28.9 APOH F2 F5 MTHFR SERPINC1
38 hellp syndrome 28.9 APOH F2 F5 MTHFR SERPINC1
39 thrombophilia due to activated protein c resistance 28.8 APOH F10 F2 F5 MTHFR SERPINC1
40 hereditary antithrombin deficiency type i 12.4
41 hereditary antithrombin deficiency 12.3
42 hereditary antithrombin deficiency type 2 12.2
43 nephrotic syndrome 10.3
44 liver cirrhosis 10.3
45 liver disease 10.2
46 sticky platelet syndrome 10.1 F5 SERPINC1
47 alpha-2-macroglobulin deficiency 10.1
48 hepatic veno-occlusive disease 10.1
49 pancreatitis 10.1
50 intestinal impaction 10.1 F2 SERPINC1

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



Diseases related to Antithrombin Iii Deficiency

Symptoms & Phenotypes for Antithrombin Iii Deficiency

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
pulmonary embolism

Laboratory Abnormalities:
antithrombin iii deficiency
type i, classic, decreased antithrombin iii levels
type ii, normal antithrombin iii level but decreased activity

Neurologic Central Nervous System:
cerebral vein thrombosis

Cardiovascular Vascular:
deep vein thrombosis
venoocclusive disease
recurrent thrombophlebitis (e.g. homozygous at-iii toyama)
arterial occlusion rare

Abdomen Gastrointestinal:
mesenteric vein thrombosis


Clinical features from OMIM:

613118

Human phenotypes related to Antithrombin Iii Deficiency:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 pulmonary embolism 32 HP:0002204
2 deep venous thrombosis 32 HP:0002625
3 arterial occlusion 32 HP:0025324
4 cerebral venous thrombosis 32 HP:0005305
5 recurrent thrombophlebitis 32 HP:0004419
6 reduced antithrombin iii activity 32 HP:0001976

MGI Mouse Phenotypes related to Antithrombin Iii Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 APOH F10 F2 F5 MTHFR SERPINC1
2 mortality/aging MP:0010768 9.1 APOH F10 F2 F5 MTHFR SERPINC1

Drugs & Therapeutics for Antithrombin Iii Deficiency

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enoxaparin Approved Phase 4 9005-49-6 772
2
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
3
Dalteparin Approved Phase 4 9005-49-6
4
Benzocaine Approved, Investigational Phase 4,Phase 3 94-09-7, 1994-09-7 2337
5 tannic acid Approved Phase 4,Phase 3
6
Serine Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 56-45-1 5951
7 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
8 calcium heparin Phase 4
9 Heparin, Low-Molecular-Weight Phase 4
10 Fibrinolytic Agents Phase 4
11
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Antithrombin III Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
13 Antithrombins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Serine Proteinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Calcium, Dietary Phase 4
17
Thrombin Approved, Investigational Phase 2, Phase 3,Early Phase 1
18 Vaccines Phase 3
19 Coagulants Phase 2
20 Hemostatics Phase 2
21 Anesthetics Phase 2
22
Sulfamethazine Approved, Investigational, Vet_approved Not Applicable 57-68-1 5327
23 Antibodies, Antiphospholipid
24 Antibodies
25 Immunologic Factors
26 Immunoglobulins

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4 Enoxaparin
2 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4 Recombinant antithrombin (rhAT)
3 Atenativ Effect on Uterine Blood Flow and Preeclampsia Withdrawn NCT02278575 Phase 4 Atenativ
4 Pharmacokinetic Study of Recombinant AT III in Neonates Undergoing ECMO Withdrawn NCT01913444 Phase 4 Recombinant Antithrombin
5 Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery Completed NCT00110513 Phase 3
6 Assess Incidence of Deep Vein Thrombosis(DVT)Following Administration of Recombinant Human Antithrombin (rhAT) to Hereditary Antithrombin(AT) Deficient Patients in High Risk Situations. Completed NCT00056550 Phase 3
7 Safety, Pharmacokinetics and Efficacy of an AT-III Concentrate. Active, not recruiting NCT00319228 Phase 2, Phase 3 Plasma-derived AT-III concentrate
8 Anti-thrombin III (ATIII) vs Placebo in Children (<7mo) Undergoing Open Congenital Cardiac Surgery Completed NCT02103114 Phase 2 Anti-thrombin III
9 Use of Antithrombin in Cardiac Surgery With Cardiopulmonary Bypass Completed NCT00823082 Phase 2 Antithrombin III
10 A Study of KW-3357 in Congenital Antithrombin Deficiency Completed NCT00938288 Phase 1 KW-3357
11 Evaluation Of The Pharmacokinetics Of Antithrombin III In Neonates And Infants Undergoing CPB And ECMO Support Completed NCT02631174 Phase 1 Antithrombin III
12 Effects of Combined Resistance and Aerobic Training vs Aerobic Training on Cognition and Mobility Following Stroke Completed NCT01712724 Not Applicable
13 Staphylococcus Aureus Bacteremia: Impact of an Intervention Program in Improving the Clinical Management and Review of the Clinical and Molecular Epidemiology Completed NCT01971762
14 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" Recruiting NCT02503267
15 Antiphospholipid Antibodies & Osteopontin as Risk Factors for Cerebrovascular Stroke in Young Adults Recruiting NCT03561285
16 The 3D Reconstruction Research of Pelvic Organ Prolapse Disease Recruiting NCT03146195
17 Is There an Interaction Between Recurrent Miscarriage and Dental Health Recruiting NCT03577314
18 Response of Continuous Recombinant Antithrombin Infusion in Postcardiotomy ECMO Patients Withdrawn NCT03090893 Early Phase 1 ATryn continuous infusion

Search NIH Clinical Center for Antithrombin Iii Deficiency

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: antithrombin iii deficiency

Genetic Tests for Antithrombin Iii Deficiency

Genetic tests related to Antithrombin Iii Deficiency:

# Genetic test Affiliating Genes
1 Antithrombin Iii Deficiency 29 SERPINC1

Anatomical Context for Antithrombin Iii Deficiency

MalaCards organs/tissues related to Antithrombin Iii Deficiency:

41
Bone, Heart, Lung, Liver, Breast, Spinal Cord, Prostate

Publications for Antithrombin Iii Deficiency

Articles related to Antithrombin Iii Deficiency:

(show top 50) (show all 254)
# Title Authors Year
1
Strategy for Cardiovascular Surgery in Patients with Antithrombin III Deficiency. ( 29681597 )
2018
2
Familial antithrombin III deficiency in a Malay patient with massive thrombosis. ( 28866705 )
2017
3
Proper diagnosis of antithrombin III deficiency. ( 28466833 )
2017
4
Successful treatment of a massive pulmonary embolism using rivaroxaban in a patient with antithrombin III deficiency. ( 30279820 )
2017
5
Edoxaban Was Effective for the Treatment of Deep Vein Thrombosis and Pulmonary Thromboembolism in a Cancer Patient with Antithrombin III Deficiency. ( 27853070 )
2016
6
Antithrombin III deficiency concomitant with atrial fibrillation causes thrombi in all chambers: 2D and 3D echocardiographic evaluation. ( 28005013 )
2016
7
Hereditary antithrombin III deficiency and neuraxial anaesthesia. ( 26603805 )
2015
8
Congenital atresia of the inferior vena cava and antithrombin III deficiency in a young adult: compounding risk factors for deep vein thrombosis. ( 25628315 )
2015
9
Antithrombin III Deficiency in Indian Patients with Deep Vein Thrombosis: Identification of First India Based AT Variants Including a Novel Point Mutation (T280A) that Leads to Aggregation. ( 25811371 )
2015
10
Portal vein thrombosis after aortic valve replacement surgery in a patient with antithrombin III deficiency--case presentation. ( 24775062 )
2014
11
Surgical treatment of atrial septal defect in a patient with familial antithrombin-III deficiency. ( 23232305 )
2013
12
A huge intracardiac thrombus developed in the presence of antithrombin III deficiency in a patient with end-stage renal failure. ( 24164998 )
2013
13
Acute coronary syndrome in a young woman with antithrombin III deficiency. ( 30533135 )
2013
14
Early graft thrombosis due to antithrombin III deficiency following CABG. ( 21327876 )
2011
15
Surgical thromboembolectomy for a massive pulmonary embolism after several venous thromboembolic episodes caused by congenital antithrombin III deficiency. ( 22051999 )
2011
16
Successful pulmonary embolectomy in a 4-year-old girl with antithrombin III deficiency. ( 20143056 )
2010
17
[Perioperative management for transurethral resection of bladder tumor (TUR-Bt) associated with congenital antithrombin III deficiency]. ( 20055199 )
2009
18
Simultaneous thromboses of double coronary arteries in a young male with antithrombin III deficiency. ( 19931780 )
2009
19
Intrapartum placement of an inferior vena cava filter for a woman with hereditary antithrombin III deficiency: its role in the prevention of fatal pulmonary embolism. ( 18226138 )
2008
20
Multiple isolated sinus dural arteriovenous fistulas associated with antithrombin III deficiency--case report--. ( 18948680 )
2008
21
Recurrent myocardial infarction in a young football player with antithrombin III deficiency. ( 18810723 )
2008
22
A model for the formation, growth, and lysis of clots in quiescent plasma. A comparison between the effects of antithrombin III deficiency and protein C deficiency. ( 18539301 )
2008
23
[Klippel-Trenaunay syndrome associated with antithrombin III deficiency]. ( 18926244 )
2008
24
Acquired angioedema associated with primary antiphospholipid syndrome in a patient with antithrombin III deficiency. ( 18204284 )
2008
25
Superior mesenteric and portal vein thrombosis caused by congenital antithrombin III deficiency: report of a case. ( 17387563 )
2007
26
Portal, splenic and mesenteric vein thrombosis in a patient with factor V Leiden mutation and antithrombin III deficiency. ( 16525787 )
2006
27
Vena cava superior syndrome developing in a dialysis patient with antithrombin III deficiency following temporary catheterization. ( 16429847 )
2006
28
Constitutional trisomy 8 mosaicism with myelodysplastic syndrome complicated by intestinal Behcet disease and antithrombin III deficiency. ( 16213367 )
2005
29
The prevalence of protein C, protein S, and antithrombin III deficiency in non-APS/SLE Chinese adults with noncardiac cerebral ischemia. ( 12812386 )
2003
30
Antithrombin III deficiency. ( 17827598 )
2003
31
Effects of argatroban as an anticoagulant for haemodialysis in patients with antithrombin III deficiency. ( 12897104 )
2003
32
Budd-Chiari syndrome due to antithrombin III deficiency. ( 14719794 )
2003
33
Pulmonary thromboembolectomy in congenital antithrombin III deficiency associated with acute pulmonary embolism -report of a case-. ( 12875643 )
2003
34
Mesenteric venous thrombosis in a patient with prothrombin 20210A mutation and antithrombin III deficiency: challenges to conventional anticoagulation--a case report. ( 12894373 )
2003
35
[Antithrombin III deficiency and regional anesthesia]. ( 12025246 )
2002
36
Livedoid vasculitis with ulcerations: the role of antithrombin III deficiency and its therapeutic consequences. ( 12056979 )
2002
37
Management of pregnancy with congenital antithrombin III deficiency: two case reports and a review of the literature. ( 11721729 )
2001
38
Anticoagulation management in a patient with an acquired antithrombin III deficiency. ( 11806438 )
2001
39
Severe preeclampsia in antithrombin III deficiency with no history of venous thromboembolism. ( 11506257 )
2001
40
Successful use of argatroban as an anticoagulant in burn-related severe acquired antithrombin III deficiency after heparin failure. ( 11776342 )
2001
41
A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency. ( 11754060 )
2001
42
Budd-Chiari syndrome and extrahepatic portal obstruction associated with congenital antithrombin III deficiency. ( 11388398 )
2001
43
Intracranial venous thrombosis associated with severe antithrombin-III deficiency in pregnancy. ( 11396643 )
2001
44
Acute arterial thrombosis with antithrombin III deficiency in nephrotic syndrome: report of a case. ( 10930236 )
2000
45
Familial antithrombin-III deficiency during cardiopulmonary bypass: a case report. ( 11131221 )
2000
46
Antithrombin III deficiency in a patient with multifocal osteonecrosis. ( 10987006 )
2000
47
Congenital antithrombin III deficiency in pregnancy treated with low-molecular-weight heparin. ( 15512479 )
2000
48
Plasma antithrombin III deficiency in ischaemic stroke in the young. ( 10402346 )
1999
49
A case of ovarian hyperstimulation syndrome in which antithrombin III deficiency occurred because of its loss into ascites. ( 10231046 )
1999
50
Deep vein thrombosis after hemolytic crisis in a glucose-6-phosphate dehydrogenase deficient boy with antithrombin-III deficiency. ( 27605287 )
1999

Variations for Antithrombin Iii Deficiency

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

75 (show top 50) (show all 84)
# Symbol AA change Variation ID SNP ID
1 SERPINC1 p.Ile39Asn VAR_007033 rs121909558
2 SERPINC1 p.Arg56Cys VAR_007035 rs28929469
3 SERPINC1 p.Pro73Leu VAR_007036 rs121909551
4 SERPINC1 p.Arg79Cys VAR_007037 rs121909547
5 SERPINC1 p.Arg79His VAR_007038 rs121909552
6 SERPINC1 p.Arg79Ser VAR_007039 rs121909547
7 SERPINC1 p.Arg89Cys VAR_007041 rs147266200
8 SERPINC1 p.Phe90Leu VAR_007042
9 SERPINC1 p.Pro112Thr VAR_007044
10 SERPINC1 p.Leu131Phe VAR_007045 rs121909567
11 SERPINC1 p.Leu131Val VAR_007046
12 SERPINC1 p.Gln133Lys VAR_007047 rs141133120
13 SERPINC1 p.Ser148Pro VAR_007049 rs121909569
14 SERPINC1 p.Gln150Pro VAR_007050 rs765445413
15 SERPINC1 p.His152Tyr VAR_007051
16 SERPINC1 p.Leu158Pro VAR_007053
17 SERPINC1 p.Arg161Gln VAR_007054 rs121909563
18 SERPINC1 p.Tyr198Cys VAR_007056 rs142553203
19 SERPINC1 p.Ser214Tyr VAR_007057 rs483352854
20 SERPINC1 p.Asn219Lys VAR_007058
21 SERPINC1 p.Asn219Asp VAR_007059 rs121909571
22 SERPINC1 p.Glu269Lys VAR_007060 rs758087836
23 SERPINC1 p.Met283Ile VAR_007062
24 SERPINC1 p.Leu302Pro VAR_007063
25 SERPINC1 p.Ile316Asn VAR_007064
26 SERPINC1 p.Glu334Lys VAR_007065
27 SERPINC1 p.Ser381Pro VAR_007067 rs121909565
28 SERPINC1 p.Ala414Thr VAR_007069 rs121909557
29 SERPINC1 p.Ala416Pro VAR_007070 rs121909548
30 SERPINC1 p.Ala416Ser VAR_007071 rs121909548
31 SERPINC1 p.Ala419Val VAR_007072 rs121909568
32 SERPINC1 p.Gly424Asp VAR_007073 rs121909566
33 SERPINC1 p.Arg425His VAR_007074 rs121909549
34 SERPINC1 p.Arg425Cys VAR_007075 rs121909554
35 SERPINC1 p.Arg425Pro VAR_007076 rs121909549
36 SERPINC1 p.Ser426Leu VAR_007077 rs121909550
37 SERPINC1 p.Phe434Cys VAR_007078
38 SERPINC1 p.Phe434Ser VAR_007079
39 SERPINC1 p.Phe434Leu VAR_007080
40 SERPINC1 p.Ala436Thr VAR_007081 rs121909546
41 SERPINC1 p.Asn437Lys VAR_007082 rs130135185
42 SERPINC1 p.Arg438Met VAR_007083
43 SERPINC1 p.Pro439Leu VAR_007084 rs121909555
44 SERPINC1 p.Pro439Thr VAR_007085 rs148741156
45 SERPINC1 p.Ile453Thr VAR_007086
46 SERPINC1 p.Gly456Arg VAR_007087
47 SERPINC1 p.Arg457Thr VAR_007088
48 SERPINC1 p.Ala459Asp VAR_007090
49 SERPINC1 p.Pro461Leu VAR_007091 rs121909564
50 SERPINC1 p.Cys462Phe VAR_007092

ClinVar genetic disease variations for Antithrombin Iii Deficiency:

6 (show top 50) (show all 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINC1 NM_000488.3(SERPINC1): c.1306G> A (p.Ala436Thr) single nucleotide variant Pathogenic rs121909546 GRCh37 Chromosome 1, 173873116: 173873116
2 SERPINC1 NM_000488.3(SERPINC1): c.1306G> A (p.Ala436Thr) single nucleotide variant Pathogenic rs121909546 GRCh38 Chromosome 1, 173903978: 173903978
3 SERPINC1 NM_000488.3(SERPINC1): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs121909547 GRCh37 Chromosome 1, 173883864: 173883864
4 SERPINC1 NM_000488.3(SERPINC1): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs121909547 GRCh38 Chromosome 1, 173914726: 173914726
5 SERPINC1 AT-III Roma undetermined variant Pathogenic
6 SERPINC1 AT-III Trento undetermined variant Pathogenic
7 SERPINC1 NM_000488.3(SERPINC1): c.1246G> C (p.Ala416Pro) single nucleotide variant Pathogenic rs121909548 GRCh37 Chromosome 1, 173873176: 173873176
8 SERPINC1 NM_000488.3(SERPINC1): c.1246G> C (p.Ala416Pro) single nucleotide variant Pathogenic rs121909548 GRCh38 Chromosome 1, 173904038: 173904038
9 SERPINC1 AT-III Fontainebleu undetermined variant Pathogenic
10 SERPINC1 NM_000488.3(SERPINC1): c.1274G> C (p.Arg425Pro) single nucleotide variant Pathogenic rs121909549 GRCh37 Chromosome 1, 173873148: 173873148
11 SERPINC1 NM_000488.3(SERPINC1): c.1274G> C (p.Arg425Pro) single nucleotide variant Pathogenic rs121909549 GRCh38 Chromosome 1, 173904010: 173904010
12 SERPINC1 NM_000488.3(SERPINC1): c.1277C> T (p.Ser426Leu) single nucleotide variant Pathogenic rs121909550 GRCh37 Chromosome 1, 173873145: 173873145
13 SERPINC1 NM_000488.3(SERPINC1): c.1277C> T (p.Ser426Leu) single nucleotide variant Pathogenic rs121909550 GRCh38 Chromosome 1, 173904007: 173904007
14 SERPINC1 NM_000488.3(SERPINC1): c.218C> T (p.Pro73Leu) single nucleotide variant Pathogenic rs121909551 GRCh37 Chromosome 1, 173883881: 173883881
15 SERPINC1 NM_000488.3(SERPINC1): c.218C> T (p.Pro73Leu) single nucleotide variant Pathogenic rs121909551 GRCh38 Chromosome 1, 173914743: 173914743
16 SERPINC1 NM_000488.3(SERPINC1): c.89T> A (p.Val30Glu) single nucleotide variant Likely benign rs2227624 GRCh37 Chromosome 1, 173884010: 173884010
17 SERPINC1 NM_000488.3(SERPINC1): c.89T> A (p.Val30Glu) single nucleotide variant Likely benign rs2227624 GRCh38 Chromosome 1, 173914872: 173914872
18 SERPINC1 AT-III Barcelona undetermined variant Pathogenic
19 SERPINC1 NM_000488.3(SERPINC1): c.236G> A (p.Arg79His) single nucleotide variant Conflicting interpretations of pathogenicity rs121909552 GRCh37 Chromosome 1, 173883863: 173883863
20 SERPINC1 NM_000488.3(SERPINC1): c.236G> A (p.Arg79His) single nucleotide variant Conflicting interpretations of pathogenicity rs121909552 GRCh38 Chromosome 1, 173914725: 173914725
21 SERPINC1 NM_000488.3(SERPINC1): c.235C> A (p.Arg79Ser) single nucleotide variant Pathogenic rs121909547 GRCh37 Chromosome 1, 173883864: 173883864
22 SERPINC1 NM_000488.3(SERPINC1): c.235C> A (p.Arg79Ser) single nucleotide variant Pathogenic rs121909547 GRCh38 Chromosome 1, 173914726: 173914726
23 SERPINC1 NM_000488.3(SERPINC1): c.1273C> T (p.Arg425Cys) single nucleotide variant Pathogenic rs121909554 GRCh37 Chromosome 1, 173873149: 173873149
24 SERPINC1 NM_000488.3(SERPINC1): c.1273C> T (p.Arg425Cys) single nucleotide variant Pathogenic rs121909554 GRCh38 Chromosome 1, 173904011: 173904011
25 SERPINC1 NM_000488.3(SERPINC1): c.1316C> T (p.Pro439Leu) single nucleotide variant Pathogenic rs121909555 GRCh37 Chromosome 1, 173873106: 173873106
26 SERPINC1 NM_000488.3(SERPINC1): c.1316C> T (p.Pro439Leu) single nucleotide variant Pathogenic rs121909555 GRCh38 Chromosome 1, 173903968: 173903968
27 SERPINC1 NM_000488.3(SERPINC1): c.1274G> A (p.Arg425His) single nucleotide variant Pathogenic rs121909549 GRCh37 Chromosome 1, 173873148: 173873148
28 SERPINC1 NM_000488.3(SERPINC1): c.1274G> A (p.Arg425His) single nucleotide variant Pathogenic rs121909549 GRCh38 Chromosome 1, 173904010: 173904010
29 SERPINC1 NM_000488.3(SERPINC1): c.1240G> A (p.Ala414Thr) single nucleotide variant Pathogenic rs121909557 GRCh37 Chromosome 1, 173873182: 173873182
30 SERPINC1 NM_000488.3(SERPINC1): c.1240G> A (p.Ala414Thr) single nucleotide variant Pathogenic rs121909557 GRCh38 Chromosome 1, 173904044: 173904044
31 SERPINC1 NM_000488.3(SERPINC1): c.116T> A (p.Ile39Asn) single nucleotide variant Pathogenic rs121909558 GRCh37 Chromosome 1, 173883983: 173883983
32 SERPINC1 NM_000488.3(SERPINC1): c.116T> A (p.Ile39Asn) single nucleotide variant Pathogenic rs121909558 GRCh38 Chromosome 1, 173914845: 173914845
33 SERPINC1 NM_000488.3(SERPINC1): c.166C> T (p.Arg56Cys) single nucleotide variant Likely pathogenic rs28929469 GRCh37 Chromosome 1, 173883933: 173883933
34 SERPINC1 NM_000488.3(SERPINC1): c.166C> T (p.Arg56Cys) single nucleotide variant Likely pathogenic rs28929469 GRCh38 Chromosome 1, 173914795: 173914795
35 SERPINC1 NM_000488.3(SERPINC1): c.1246G> T (p.Ala416Ser) single nucleotide variant Likely benign rs121909548 GRCh37 Chromosome 1, 173873176: 173873176
36 SERPINC1 NM_000488.3(SERPINC1): c.1246G> T (p.Ala416Ser) single nucleotide variant Likely benign rs121909548 GRCh38 Chromosome 1, 173904038: 173904038
37 SERPINC1 SERPINC1, 1-BP DEL, A deletion Pathogenic
38 SERPINC1 SERPINC1, 2-BP DEL, AG deletion Pathogenic
39 SERPINC1 SERPINC1, 1-BP INS, 780A insertion Pathogenic
40 SERPINC1 NM_000488.3(SERPINC1): c.967_968delAG (p.Ser323Profs) deletion Pathogenic rs121909560 GRCh37 Chromosome 1, 173878875: 173878876
41 SERPINC1 NM_000488.3(SERPINC1): c.967_968delAG (p.Ser323Profs) deletion Pathogenic rs121909560 GRCh38 Chromosome 1, 173909737: 173909738
42 SERPINC1 NM_000488.3(SERPINC1): c.1021_1024delGATG (p.Asp341Asnfs) deletion Pathogenic rs121909561 GRCh37 Chromosome 1, 173878819: 173878822
43 SERPINC1 NM_000488.3(SERPINC1): c.1021_1024delGATG (p.Asp341Asnfs) deletion Pathogenic rs121909561 GRCh38 Chromosome 1, 173909681: 173909684
44 SERPINC1 NM_000488.3(SERPINC1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs121909562 GRCh37 Chromosome 1, 173881080: 173881080
45 SERPINC1 NM_000488.3(SERPINC1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs121909562 GRCh38 Chromosome 1, 173911942: 173911942
46 SERPINC1 NM_000488.3(SERPINC1): c.482G> A (p.Arg161Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121909563 GRCh37 Chromosome 1, 173881079: 173881079
47 SERPINC1 NM_000488.3(SERPINC1): c.482G> A (p.Arg161Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121909563 GRCh38 Chromosome 1, 173911941: 173911941
48 SERPINC1 NM_000488.3(SERPINC1): c.1382C> T (p.Pro461Leu) single nucleotide variant Pathogenic rs121909564 GRCh37 Chromosome 1, 173873040: 173873040
49 SERPINC1 NM_000488.3(SERPINC1): c.1382C> T (p.Pro461Leu) single nucleotide variant Pathogenic rs121909564 GRCh38 Chromosome 1, 173903902: 173903902
50 SERPINC1 NM_000488.3(SERPINC1): c.1141T> C (p.Ser381Pro) single nucleotide variant Pathogenic rs121909565 GRCh37 Chromosome 1, 173878702: 173878702

Expression for Antithrombin Iii Deficiency

Search GEO for disease gene expression data for Antithrombin Iii Deficiency.

Pathways for Antithrombin Iii Deficiency

Pathways related to Antithrombin Iii Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Antithrombin Iii Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 APOH F10 F2 F5 SERPINC1
2
Show member pathways
12.28 F10 F2 F5 SERPINC1
3
Show member pathways
11.46 F10 F2 F5 SERPINC1
4
Show member pathways
11.4 F10 F2
5 11.07 F10 F2 F5 SERPINC1
6 10.5 F10 F2

GO Terms for Antithrombin Iii Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.55 APOH F10 F2 F5 SERPINC1
2 extracellular space GO:0005615 9.35 APOH F10 F2 F5 SERPINC1
3 Golgi lumen GO:0005796 9.26 F10 F2
4 endoplasmic reticulum lumen GO:0005788 8.92 F10 F2 F5 SERPINC1

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.61 F2 F5 SERPINC1
2 ER to Golgi vesicle-mediated transport GO:0006888 9.58 F10 F2 F5
3 blood circulation GO:0008015 9.46 F5 MTHFR
4 blood coagulation GO:0007596 9.46 F10 F2 F5 SERPINC1
5 blood coagulation, intrinsic pathway GO:0007597 9.37 APOH F2
6 positive regulation of blood coagulation GO:0030194 9.32 APOH F2
7 negative regulation of fibrinolysis GO:0051918 9.26 APOH F2
8 regulation of blood coagulation GO:0030193 9.13 APOH F2 SERPINC1
9 hemostasis GO:0007599 8.92 F10 F2 F5 SERPINC1

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.8 APOH F2 SERPINC1

Sources for Antithrombin Iii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....