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 54 26 74
Antithrombin Iii Deficiency 54 26 74
Congenital Antithrombin Iii Deficiency 54 26
Hereditary Thrombophilia Due to Congenital Antithrombin 3 Deficiency 54
Hereditary Thrombophilia Due to Congenital Antithrombin Deficiency 54
Thrombophilia Due to Antithrombin Iii Deficiency 54
Inherited Antithrombin Deficiency 54
Congenital at-Iii Deficiency 54

Classifications:



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Summaries for Hereditary Antithrombin Deficiency

NIH Rare Diseases : 54 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 antithrombin iii deficiency and hereditary antithrombin deficiency type i. An important gene associated with Hereditary Antithrombin Deficiency is SERPINC1 (Serpin Family C Member 1). The drugs Heparin and Dalteparin have been mentioned in the context of this disorder. Affiliated tissues include lung and heart.

Genetics Home Reference : 26 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 antithrombin iii deficiency 12.9
2 hereditary antithrombin deficiency type i 12.4
3 hereditary antithrombin deficiency type 2 12.3
4 budd-chiari syndrome 11.7
5 thrombophilia due to thrombin defect 10.5
6 pulmonary embolism 10.3
7 nephrotic syndrome 10.3
8 antiphospholipid syndrome 10.1
9 thrombosis 10.1
10 myocardial infarction 10.1
11 leukemia 10.1
12 retinal vein occlusion 10.1
13 ischemia 10.1
14 thrombocytopenia 9.9
15 portal vein 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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
2
Dalteparin Approved Phase 4 9005-49-6
3
Enoxaparin Approved Phase 4 9005-49-6 772
4
Benzocaine Approved, Investigational Phase 4,Phase 3 94-09-7, 1994-09-7 2337
5
tannic acid Approved Phase 4,Phase 3 1401-55-4
6
Serine Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 56-45-1 5951
7
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
8 calcium heparin Phase 4
9 Fibrinolytic Agents Phase 4
10 Heparin, Low-Molecular-Weight Phase 4
11 Anticoagulants 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 Serine Proteinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Calcium, Dietary Phase 4
18
Thrombin Approved, Investigational Phase 2, Phase 3,Early Phase 1
19 Vaccines Phase 3
20 Anesthetics Phase 2
21 Coagulants Phase 2
22 Hemostatics Phase 2
23
Sulfamethazine Approved, Investigational, Vet_approved Not Applicable 57-68-1 5327
24 Antibodies
25 Immunologic Factors
26 Antibodies, Antiphospholipid
27 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 Use of Antithrombin in Cardiac Surgery With Cardiopulmonary Bypass Completed NCT00823082 Phase 2 Antithrombin III
9 Anti-thrombin III (ATIII) vs Placebo in Children (<7mo) Undergoing Open Congenital Cardiac Surgery Completed NCT02103114 Phase 2 Anti-thrombin 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 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" Unknown status NCT02503267
13 Effects of Combined Resistance and Aerobic Training vs Aerobic Training on Cognition and Mobility Following Stroke Completed NCT01712724 Not Applicable
14 Staphylococcus Aureus Bacteremia: Impact of an Intervention Program in Improving the Clinical Management and Review of the Clinical and Molecular Epidemiology Completed NCT01971762
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 Hereditary Antithrombin Deficiency

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Hereditary Antithrombin Deficiency

Anatomical Context for Hereditary Antithrombin Deficiency

MalaCards organs/tissues related to Hereditary Antithrombin Deficiency:

42
Lung, Heart

Publications for Hereditary Antithrombin Deficiency

Articles related to Hereditary Antithrombin Deficiency:

(show all 29)
# Title Authors Year
1
SERPINC1 variants causing hereditary antithrombin deficiency in a Danish population. ( 30721820 )
2019
2
Portal Vein Thrombosis in a Patient with Hereditary Antithrombin Deficiency. ( 30799362 )
2019
3
Association of hereditary antithrombin deficiency with intrauterine growth restriction. ( 29889663 )
2018
4
I^-Antithrombin, subtype of antithrombin deficiency and the risk of venous thromboembolism in hereditary antithrombin deficiency: A family cohort study. ( 29902631 )
2018
5
Management of Venous Thromboembolism in Patients with Hereditary Antithrombin Deficiency and Pregnancy: Case Report and Review of the Literature. ( 28168066 )
2017
6
Management of hereditary antithrombin deficiency in pregnancy. ( 28689083 )
2017
7
Successful treatment of a massive pulmonary embolism using rivaroxaban in a patient with antithrombin III deficiency. ( 30279820 )
2017
8
Issues in the Diagnosis and Management of Hereditary Antithrombin Deficiency. ( 27281301 )
2016
9
Recombinant Human Antithrombin in Pregnant Patients with Hereditary Antithrombin Deficiency: Integrated Analysis of Clinical Data. ( 26461927 )
2015
10
Perioperative and peripartum prevention of venous thromboembolism in patients with hereditary antithrombin deficiency using recombinant antithrombin therapy. ( 24686101 )
2014
11
Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency. ( 24196373 )
2013
12
How I treat heterozygous hereditary antithrombin deficiency in pregnancy. ( 23903049 )
2013
13
Prevention, management and extent of adverse pregnancy outcomes in women with hereditary antithrombin deficiency. ( 23999648 )
2013
14
Prevention and treatment of venous thromboembolism in pregnancy in patients with hereditary antithrombin deficiency. ( 23662090 )
2013
15
Pharmacokinetics of Recombinant Human Antithrombin in Delivery and Surgery Patients With Hereditary Antithrombin Deficiency. ( 24335249 )
2013
16
Quite a backup: pericardial varices in a patient with hereditary antithrombin deficiency. ( 23833730 )
2013
17
Acute coronary syndrome in a young woman with antithrombin III deficiency. ( 30533135 )
2013
18
Argatroban therapy for heparin-induced thrombocytopenia during pregnancy in a woman with hereditary antithrombin deficiency. ( 22380425 )
2012
19
A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. ( 21325262 )
2011
20
Neuraxial anesthesia for labor and cesarean delivery in a parturient with hereditary antithrombin deficiency on recombinant human antithrombin infusion therapy. ( 20868967 )
2010
21
Role of antithrombin concentrate in treatment of hereditary antithrombin deficiency. An update. ( 19404531 )
2009
22
Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA). ( 18208532 )
2008
23
[Olav Egeberg--hereditary antithrombin deficiency and thrombophilia]. ( 11301618 )
2001
24
A novel splice site mutation in a Brazilian patient with hereditary antithrombin deficiency type I. ( 10077734 )
1999
25
[Hereditary antithrombin deficiency and pregnancy. Pregnancy course in six women with known hereditary antithrombin deficiency]. ( 9850619 )
1998
26
Analysis for antithrombin gene polymorphisms in Japanese subjects and cosegregation studies in families with hereditary antithrombin deficiency. ( 8732631 )
1996
27
Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. ( 7994035 )
1994
28
Termination of pregnancy in a woman with hereditary antithrombin deficiency under antithrombotic protection with subcutaneous heparin and infusion of plasma. ( 7262640 )
1981
29
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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