MCID: HRD083
MIFTS: 28

Hereditary Antithrombin Deficiency

Categories: Blood diseases, Cardiovascular diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hereditary Antithrombin Deficiency

MalaCards integrated aliases for Hereditary Antithrombin Deficiency:

Name: Hereditary Antithrombin Deficiency 53 25 73
Antithrombin Iii Deficiency 53 25 73
Congenital Antithrombin Iii Deficiency 53 25
Hereditary Thrombophilia Due to Congenital Antithrombin 3 Deficiency 53
Hereditary Thrombophilia Due to Congenital Antithrombin Deficiency 53
Thrombophilia Due to Antithrombin Iii Deficiency 53
Inherited Antithrombin Deficiency 53
Congenital at-Iii Deficiency 53

Classifications:



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Summaries for Hereditary Antithrombin Deficiency

NIH Rare Diseases : 53 Hereditary antithrombin deficiency, also known as antithrombin III deficiency or AT III deficiency, is a disorder in which individuals are at increased risk for developing blood clots. The type of blood clots seen in individuals with this condition are typically clots that form in the deep veins of the leg (deep vein thrombosis or DVT) and clots that lodge in the lungs (pulmonary embolism or PE). Approximately 50% of individuals with hereditary antithrombin deficiency will develop one or more clots in their lifetime, usually after adolescence. Factors that may increase the likelihood of clotting include pregnancy, the use of oral contraceptives, surgery, increasing age, and a lack of movement. Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene and is typically inherited in an autosomal dominant manner.

MalaCards based summary : Hereditary Antithrombin Deficiency, also known as antithrombin iii deficiency, is related to hereditary antithrombin deficiency type i and hereditary antithrombin deficiency type 2. An important gene associated with Hereditary Antithrombin Deficiency is SERPINC1 (Serpin Family C Member 1). The drugs Enoxaparin and Heparin have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and whole blood.

Genetics Home Reference : 25 Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT). Affected individuals also have an increased risk of developing a pulmonary embolism (PE), which is a clot that travels through the bloodstream and lodges in the lungs. In hereditary antithrombin deficiency, abnormal blood clots usually form only in veins, although they may rarely occur in arteries.

Related Diseases for Hereditary Antithrombin Deficiency

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 hereditary antithrombin deficiency type i 12.4
2 hereditary antithrombin deficiency type 2 12.2
3 budd-chiari syndrome 11.6
4 antithrombin iii deficiency 11.3
5 thrombophilia due to thrombin defect 10.5
6 pulmonary embolism 10.3
7 nephrotic syndrome 10.3
8 portal vein thrombosis 10.1
9 antiphospholipid syndrome 10.1
10 myocardial infarction 10.0
11 leukemia 10.0
12 retinal vein occlusion 10.0
13 ischemia 10.0
14 thrombocytopenia 9.9
15 thrombosis 9.9
16 thrombophilia 9.9
17 heparin-induced thrombocytopenia 9.9
18 klippel-trenaunay-weber syndrome 9.9
19 systemic lupus erythematosus 9.9
20 ovarian hyperstimulation syndrome 9.9
21 acute promyelocytic leukemia 9.9
22 leukemia, acute lymphoblastic 9.9
23 myelodysplastic syndrome 9.9
24 diabetes mellitus 9.9
25 end stage renal failure 9.9
26 glomerulonephritis 9.9
27 osteonecrosis 9.9
28 livedoid vasculitis 9.9
29 colitis 9.9
30 atrial fibrillation 9.9
31 lymphocytic leukemia 9.9
32 pre-eclampsia 9.9
33 disseminated intravascular coagulation 9.9
34 coronary thrombosis 9.9
35 von willebrand's disease 9.9
36 mycoplasma pneumoniae pneumonia 9.9
37 eclampsia 9.9
38 toxic shock syndrome 9.9
39 angioedema 9.9
40 atrial heart septal defect 9.9
41 central retinal vein occlusion 9.9
42 protein s deficiency 9.9
43 sagittal sinus thrombosis 9.9
44 protein c deficiency 9.9
45 thrombophlebitis 9.9
46 pneumonia 9.9
47 vasculitis 9.9
48 lupus erythematosus 9.9
49 amyloidosis 9.9
50 acquired angioedema 9.9

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



Diseases related to Hereditary Antithrombin Deficiency

Symptoms & Phenotypes for Hereditary Antithrombin Deficiency

Drugs & Therapeutics for Hereditary Antithrombin Deficiency

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

(show all 25)
# 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 Anesthetics Phase 2
20 Coagulants Phase 2
21 Hemostatics Phase 2
22 Antibodies, Antiphospholipid
23 Antibodies
24 Immunologic Factors
25 Immunoglobulins

Interventional clinical trials:

(show all 13)
# 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 Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery Completed NCT00110513 Phase 3
5 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
6 Safety, Pharmacokinetics and Efficacy of an AT-III Concentrate. Active, not recruiting NCT00319228 Phase 2, Phase 3 Plasma-derived AT-III concentrate
7 Use of Antithrombin in Cardiac Surgery With Cardiopulmonary Bypass Completed NCT00823082 Phase 2 Antithrombin III
8 Anti-thrombin III (ATIII) vs Placebo in Children (<7mo) Undergoing Open Congenital Cardiac Surgery Completed NCT02103114 Phase 2 Anti-thrombin III
9 A Study of KW-3357 in Congenital Antithrombin Deficiency Completed NCT00938288 Phase 1 KW-3357
10 Evaluation Of The Pharmacokinetics Of Antithrombin III In Neonates And Infants Undergoing CPB And ECMO Support Completed NCT02631174 Phase 1 Antithrombin III
11 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" Recruiting NCT02503267
12 Antiphospholipid Antibodies & Osteopontin as Risk Factors for Cerebrovascular Stroke in Young Adults Recruiting NCT03561285
13 Response of Continuous Recombinant Antithrombin Infusion in Postcardiotomy ECMO Patients Withdrawn NCT03090893 Early Phase 1 ATryn continuous infusion

Search NIH Clinical Center for Hereditary Antithrombin Deficiency

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


Genetic Tests for Hereditary Antithrombin Deficiency

Anatomical Context for Hereditary Antithrombin Deficiency

MalaCards organs/tissues related to Hereditary Antithrombin Deficiency:

41
Lung, Heart, Whole Blood

Publications for Hereditary Antithrombin Deficiency

Articles related to Hereditary Antithrombin Deficiency:

(show all 39)
# Title Authors Year
1
Association of hereditary antithrombin deficiency with intrauterine growth restriction. ( 29889663 )
2018
2
I^-Antithrombin, subtype of antithrombin deficiency and the risk of venous thromboembolism in hereditary antithrombin deficiency: A family cohort study. ( 29902631 )
2018
3
Management of Venous Thromboembolism in Patients with Hereditary Antithrombin Deficiency and Pregnancy: Case Report and Review of the Literature. ( 28168066 )
2017
4
Management of hereditary antithrombin deficiency in pregnancy. ( 28689083 )
2017
5
Successful treatment of a massive pulmonary embolism using rivaroxaban in a patient with antithrombin III deficiency. ( 30279820 )
2017
6
Issues in the Diagnosis and Management of Hereditary Antithrombin Deficiency. ( 27281301 )
2016
7
Antithrombin III deficiency concomitant with atrial fibrillation causes thrombi in all chambers: 2D and 3D echocardiographic evaluation. ( 28005013 )
2016
8
Recombinant Human Antithrombin in Pregnant Patients with Hereditary Antithrombin Deficiency: Integrated Analysis of Clinical Data. ( 26461927 )
2015
9
Perioperative and peripartum prevention of venous thromboembolism in patients with hereditary antithrombin deficiency using recombinant antithrombin therapy. ( 24686101 )
2014
10
Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency. ( 24196373 )
2013
11
How I treat heterozygous hereditary antithrombin deficiency in pregnancy. ( 23903049 )
2013
12
Prevention, management and extent of adverse pregnancy outcomes in women with hereditary antithrombin deficiency. ( 23999648 )
2013
13
Prevention and treatment of venous thromboembolism in pregnancy in patients with hereditary antithrombin deficiency. ( 23662090 )
2013
14
Pharmacokinetics of Recombinant Human Antithrombin in Delivery and Surgery Patients With Hereditary Antithrombin Deficiency. ( 24335249 )
2013
15
Quite a backup: pericardial varices in a patient with hereditary antithrombin deficiency. ( 23833730 )
2013
16
Acute coronary syndrome in a young woman with antithrombin III deficiency. ( 30533135 )
2013
17
Argatroban therapy for heparin-induced thrombocytopenia during pregnancy in a woman with hereditary antithrombin deficiency. ( 22380425 )
2012
18
A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. ( 21325262 )
2011
19
Neuraxial anesthesia for labor and cesarean delivery in a parturient with hereditary antithrombin deficiency on recombinant human antithrombin infusion therapy. ( 20868967 )
2010
20
Role of antithrombin concentrate in treatment of hereditary antithrombin deficiency. An update. ( 19404531 )
2009
21
Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA). ( 18208532 )
2008
22
[Olav Egeberg--hereditary antithrombin deficiency and thrombophilia]. ( 11301618 )
2001
23
A novel splice site mutation in a Brazilian patient with hereditary antithrombin deficiency type I. ( 10077734 )
1999
24
[Hereditary antithrombin deficiency and pregnancy. Pregnancy course in six women with known hereditary antithrombin deficiency]. ( 9850619 )
1998
25
Analysis for antithrombin gene polymorphisms in Japanese subjects and cosegregation studies in families with hereditary antithrombin deficiency. ( 8732631 )
1996
26
Aortic thrombosis in a neonate with hereditary antithrombin III deficiency: successful outcome with thrombolytic and replacement treatment. ( 8640060 )
1996
27
Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. ( 7994035 )
1994
28
Prothrombin fragment 1 + 2, thrombin-antithrombin III-complexes and fibrinopeptide A in spontaneously clotting whole blood in vitro. Effects of heparin addition and antithrombin III deficiency. ( 8165646 )
1994
29
Bilateral ileofemoral thrombophlebitis after ten contraceptive pills in a 25-year-old woman with antithrombin III deficiency. ( 3124473 )
1988
30
Antithrombin III microheterogeneity in antithrombin III deficiency and in the antithrombin III abnormality, "antithrombin III Toyama". ( 3116713 )
1987
31
Antithrombin III deficiency: clinical aspects. ( 6724356 )
1984
32
Molecular heterogeneity of inherited antithrombin III deficiency. ( 6304514 )
1983
33
Molecular heterogeneity of inherited antithrombin III deficiency. ( 6621648 )
1983
34
Clinical and genetic aspects of antithrombin III deficiency. ( 6846404 )
1983
35
Aortic thrombosis in antithrombin III deficiency. ( 7057600 )
1982
36
Termination of pregnancy in a woman with hereditary antithrombin deficiency under antithrombotic protection with subcutaneous heparin and infusion of plasma. ( 7262640 )
1981
37
Antithrombin III deficiency appearing as mesenteric vein thrombosis. ( 7331986 )
1981
38
Familial thrombosis associated with antithrombin III deficiency in a young adult male. A case report. ( 7423287 )
1980
39
Subcutaneous heparin for thrombosis in pregnant women with hereditary antithrombin deficiency. ( 84100 )
1979

Variations for Hereditary Antithrombin Deficiency

Expression for Hereditary Antithrombin Deficiency

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

Pathways for Hereditary Antithrombin Deficiency

GO Terms for Hereditary Antithrombin Deficiency

Sources for Hereditary Antithrombin 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
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