MCID: HRD083
MIFTS: 24

Hereditary Antithrombin Deficiency

Categories: Rare diseases, Blood 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:



External Ids:

UMLS 73 C3658294

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 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 : 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:

# Related Disease Score Top Affiliating Genes
1 antithrombin iii deficiency 12.8
2 hereditary antithrombin deficiency type i 12.3
3 hereditary antithrombin deficiency type 2 12.1
4 budd-chiari syndrome 11.5
5 thrombocytopenia 9.8
6 thrombosis 9.8
7 thrombophilia 9.8
8 type i 9.8
9 heparin-induced thrombocytopenia 9.8

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 21)
# 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 1994-09-7, 94-09-7 2337
5
Serine Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 56-45-1 5951
6 tannic acid Approved, Nutraceutical Phase 4,Phase 3
7 calcium heparin Phase 4
8
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Fibrinolytic Agents Phase 4
10 Serine Proteinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
11 Heparin, Low-Molecular-Weight Phase 4
12 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
13 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Antithrombin III Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Antithrombins 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

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 Evaluation Of The Pharmacokinetics Of Antithrombin III In Neonates And Infants Undergoing CPB And ECMO Support Unknown status NCT02631174 Phase 1 Antithrombin III
10 A Study of KW-3357 in Congenital Antithrombin Deficiency Completed NCT00938288 Phase 1 KW-3357
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 Not yet recruiting 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

Publications for Hereditary Antithrombin Deficiency

Articles related to Hereditary Antithrombin Deficiency:

(show all 26)
# 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
Issues in the Diagnosis and Management of Hereditary Antithrombin Deficiency. ( 27281301 )
2016
6
Recombinant Human Antithrombin in Pregnant Patients with Hereditary Antithrombin Deficiency: Integrated Analysis of Clinical Data. ( 26461927 )
2015
7
Perioperative and peripartum prevention of venous thromboembolism in patients with hereditary antithrombin deficiency using recombinant antithrombin therapy. ( 24686101 )
2014
8
Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency. ( 24196373 )
2013
9
How I treat heterozygous hereditary antithrombin deficiency in pregnancy. ( 23903049 )
2013
10
Prevention, management and extent of adverse pregnancy outcomes in women with hereditary antithrombin deficiency. ( 23999648 )
2013
11
Prevention and treatment of venous thromboembolism in pregnancy in patients with hereditary antithrombin deficiency. ( 23662090 )
2013
12
Pharmacokinetics of Recombinant Human Antithrombin in Delivery and Surgery Patients With Hereditary Antithrombin Deficiency. ( 24335249 )
2013
13
Quite a backup: pericardial varices in a patient with hereditary antithrombin deficiency. ( 23833730 )
2013
14
Argatroban therapy for heparin-induced thrombocytopenia during pregnancy in a woman with hereditary antithrombin deficiency. ( 22380425 )
2012
15
A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. ( 21325262 )
2011
16
Neuraxial anesthesia for labor and cesarean delivery in a parturient with hereditary antithrombin deficiency on recombinant human antithrombin infusion therapy. ( 20868967 )
2010
17
Role of antithrombin concentrate in treatment of hereditary antithrombin deficiency. An update. ( 19404531 )
2009
18
[Pregnancy and delivery in type II hereditary antithrombin deficient patients]. ( 19177736 )
2008
19
Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA). ( 18208532 )
2008
20
[Olav Egeberg--hereditary antithrombin deficiency and thrombophilia]. ( 11301618 )
2001
21
A novel splice site mutation in a Brazilian patient with hereditary antithrombin deficiency type I. ( 10077734 )
1999
22
[Hereditary antithrombin deficiency and pregnancy. Pregnancy course in six women with known hereditary antithrombin deficiency]. ( 9850619 )
1998
23
Analysis for antithrombin gene polymorphisms in Japanese subjects and cosegregation studies in families with hereditary antithrombin deficiency. ( 8732631 )
1996
24
Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. ( 7994035 )
1994
25
Termination of pregnancy in a woman with hereditary antithrombin deficiency under antithrombotic protection with subcutaneous heparin and infusion of plasma. ( 7262640 )
1981
26
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
Content
Loading form....