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 49 24 69
Antithrombin Iii Deficiency 49 24 69
Congenital Antithrombin Iii Deficiency 49 24
Hereditary Thrombophilia Due to Congenital Antithrombin 3 Deficiency 49
Hereditary Thrombophilia Due to Congenital Antithrombin Deficiency 49
Thrombophilia Due to Antithrombin Iii Deficiency 49
Inherited Antithrombin Deficiency 49
Congenital at-Iii Deficiency 49

Classifications:



External Ids:

UMLS 69 C3658294

Summaries for Hereditary Antithrombin Deficiency

NIH Rare Diseases : 49 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. Last updated: 8/5/2015

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 : 24 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 12.5
3 hereditary antithrombin deficiency type 2 12.3
4 budd-chiari syndrome 11.5
5 blood group, i system 9.8
6 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.8
7 thrombocytopenia 9.8
8 thrombosis 9.8
9 thrombophilia 9.8
10 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 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
2
Dalteparin Approved Phase 4 9005-49-6
3
Benzocaine Approved, Investigational Phase 4,Phase 3 1994-09-7, 94-09-7 2337
4 tannic acid Approved, Nutraceutical Phase 4,Phase 3
5 calcium heparin Phase 4
6
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
7 Fibrinolytic Agents Phase 4
8 Serine Proteinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Heparin, Low-Molecular-Weight Phase 4
10 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
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 Calcium, Dietary Phase 4
15 serine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16
Thrombin Approved, Investigational Phase 2, Phase 3,Early Phase 1
17 Vaccines Phase 3
18 Coagulants Phase 2
19 Hemostatics Phase 2
20 Anesthetics Phase 2

Interventional clinical trials:

(show all 12)

# 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. 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 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 69 / NDF-RT 47 :


Genetic Tests for Hereditary Antithrombin Deficiency

Anatomical Context for Hereditary Antithrombin Deficiency

MalaCards organs/tissues related to Hereditary Antithrombin Deficiency:

38
Lung, Heart

Publications for Hereditary Antithrombin Deficiency

Articles related to Hereditary Antithrombin Deficiency:

(show all 24)
# Title Authors Year
1
Management of Venous Thromboembolism in Patients with Hereditary Antithrombin Deficiency and Pregnancy: Case Report and Review of the Literature. ( 28168066 )
2017
2
Management of hereditary antithrombin deficiency in pregnancy. ( 28689083 )
2017
3
Issues in the Diagnosis and Management of Hereditary Antithrombin Deficiency. ( 27281301 )
2016
4
Recombinant Human Antithrombin in Pregnant Patients with Hereditary Antithrombin Deficiency: Integrated Analysis of Clinical Data. ( 26461927 )
2015
5
Perioperative and peripartum prevention of venous thromboembolism in patients with hereditary antithrombin deficiency using recombinant antithrombin therapy. ( 24686101 )
2014
6
Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency. ( 24196373 )
2013
7
Prevention and treatment of venous thromboembolism in pregnancy in patients with hereditary antithrombin deficiency. ( 23662090 )
2013
8
How I treat heterozygous hereditary antithrombin deficiency in pregnancy. ( 23903049 )
2013
9
Pharmacokinetics of Recombinant Human Antithrombin in Delivery and Surgery Patients With Hereditary Antithrombin Deficiency. ( 24335249 )
2013
10
Quite a backup: pericardial varices in a patient with hereditary antithrombin deficiency. ( 23833730 )
2013
11
Prevention, management and extent of adverse pregnancy outcomes in women with hereditary antithrombin deficiency. ( 23999648 )
2013
12
Argatroban therapy for heparin-induced thrombocytopenia during pregnancy in a woman with hereditary antithrombin deficiency. ( 22380425 )
2012
13
A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. ( 21325262 )
2011
14
Neuraxial anesthesia for labor and cesarean delivery in a parturient with hereditary antithrombin deficiency on recombinant human antithrombin infusion therapy. ( 20868967 )
2010
15
Role of antithrombin concentrate in treatment of hereditary antithrombin deficiency. An update. ( 19404531 )
2009
16
[Pregnancy and delivery in type II hereditary antithrombin deficient patients]. ( 19177736 )
2008
17
Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA). ( 18208532 )
2008
18
[Olav Egeberg--hereditary antithrombin deficiency and thrombophilia]. ( 11301618 )
2001
19
A novel splice site mutation in a Brazilian patient with hereditary antithrombin deficiency type I. ( 10077734 )
1999
20
[Hereditary antithrombin deficiency and pregnancy. Pregnancy course in six women with known hereditary antithrombin deficiency]. ( 9850619 )
1998
21
Analysis for antithrombin gene polymorphisms in Japanese subjects and cosegregation studies in families with hereditary antithrombin deficiency. ( 8732631 )
1996
22
Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. ( 7994035 )
1994
23
Termination of pregnancy in a woman with hereditary antithrombin deficiency under antithrombotic protection with subcutaneous heparin and infusion of plasma. ( 7262640 )
1981
24
Subcutaneous heparin for thrombosis in pregnant women with hereditary antithrombin deficiency. ( 84100 )
1979

Variations for Hereditary Antithrombin Deficiency

ClinVar genetic disease variations for Hereditary Antithrombin Deficiency:

6 (show all 41)
# 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.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs121909547 GRCh37 Chromosome 1, 173883864: 173883864
3 SERPINC1 AT-III Roma undetermined variant Pathogenic
4 SERPINC1 AT-III Trento undetermined variant Pathogenic
5 SERPINC1 NM_000488.3(SERPINC1): c.1246G> C (p.Ala416Pro) single nucleotide variant Pathogenic rs121909548 GRCh37 Chromosome 1, 173873176: 173873176
6 SERPINC1 AT-III Fontainebleu undetermined variant Pathogenic
7 SERPINC1 NM_000488.3(SERPINC1): c.1274G> C (p.Arg425Pro) single nucleotide variant Pathogenic rs121909549 GRCh37 Chromosome 1, 173873148: 173873148
8 SERPINC1 NM_000488.3(SERPINC1): c.1277C> T (p.Ser426Leu) single nucleotide variant Pathogenic rs121909550 GRCh37 Chromosome 1, 173873145: 173873145
9 SERPINC1 AT-III Barcelona undetermined variant Pathogenic
10 SERPINC1 NM_000488.3(SERPINC1): c.235C> A (p.Arg79Ser) single nucleotide variant Pathogenic rs121909547 GRCh37 Chromosome 1, 173883864: 173883864
11 SERPINC1 NM_000488.3(SERPINC1): c.1273C> T (p.Arg425Cys) single nucleotide variant Pathogenic rs121909554 GRCh37 Chromosome 1, 173873149: 173873149
12 SERPINC1 NM_000488.3(SERPINC1): c.1316C> T (p.Pro439Leu) single nucleotide variant Pathogenic rs121909555 GRCh37 Chromosome 1, 173873106: 173873106
13 SERPINC1 NM_000488.3(SERPINC1): c.1274G> A (p.Arg425His) single nucleotide variant Pathogenic rs121909549 GRCh37 Chromosome 1, 173873148: 173873148
14 SERPINC1 NM_000488.3(SERPINC1): c.1240G> A (p.Ala414Thr) single nucleotide variant Pathogenic rs121909557 GRCh37 Chromosome 1, 173873182: 173873182
15 SERPINC1 NM_000488.3(SERPINC1): c.116T> A (p.Ile39Asn) single nucleotide variant Pathogenic rs121909558 GRCh37 Chromosome 1, 173883983: 173883983
16 SERPINC1 NM_000488.3(SERPINC1): c.166C> T (p.Arg56Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28929469 GRCh37 Chromosome 1, 173883933: 173883933
17 SERPINC1 SERPINC1, 1-BP DEL, A deletion Pathogenic
18 SERPINC1 SERPINC1, 2-BP DEL, AG deletion Pathogenic
19 SERPINC1 SERPINC1, 1-BP INS, 780A insertion Pathogenic
20 SERPINC1 NM_000488.3(SERPINC1): c.967_968delAG (p.Ser323Profs) deletion Pathogenic rs121909560 GRCh37 Chromosome 1, 173878875: 173878876
21 SERPINC1 NM_000488.3(SERPINC1): c.1021_1024delGATG (p.Asp341Asnfs) deletion Pathogenic rs121909561 GRCh37 Chromosome 1, 173878819: 173878822
22 SERPINC1 NM_000488.3(SERPINC1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs121909562 GRCh37 Chromosome 1, 173881080: 173881080
23 SERPINC1 NM_000488.3(SERPINC1): c.1382C> T (p.Pro461Leu) single nucleotide variant Pathogenic rs121909564 GRCh37 Chromosome 1, 173873040: 173873040
24 SERPINC1 NM_000488.3(SERPINC1): c.1141T> C (p.Ser381Pro) single nucleotide variant Pathogenic rs121909565 GRCh37 Chromosome 1, 173878702: 173878702
25 SERPINC1 NM_000488.3(SERPINC1): c.1271G> A (p.Gly424Asp) single nucleotide variant Pathogenic rs121909566 GRCh37 Chromosome 1, 173873151: 173873151
26 SERPINC1 NM_000488.3(SERPINC1): c.391C> T (p.Leu131Phe) single nucleotide variant Pathogenic rs121909567 GRCh37 Chromosome 1, 173883708: 173883708
27 SERPINC1 SERPINC1, 1-BP INS, T, CODON 48 insertion Pathogenic
28 SERPINC1 SERPINC1, 1-BP INS, A, CODON 208 insertion Pathogenic
29 SERPINC1 SERPINC1, 1-BP DEL, A, CODON 370 deletion Pathogenic
30 SERPINC1 NM_000488.3(SERPINC1): c.442T> C (p.Ser148Pro) single nucleotide variant Pathogenic rs121909569 GRCh37 Chromosome 1, 173881119: 173881119
31 SERPINC1 NM_000488.3(SERPINC1): c.68T> C (p.Leu23Pro) single nucleotide variant Pathogenic rs387906575 GRCh37 Chromosome 1, 173884031: 173884031
32 SERPINC1 NM_000488.3(SERPINC1): c.500A> C (p.Asn167Thr) single nucleotide variant Pathogenic rs121909570 GRCh37 Chromosome 1, 173881061: 173881061
33 SERPINC1 NM_000488.3(SERPINC1): c.655A> G (p.Asn219Asp) single nucleotide variant Pathogenic rs121909571 GRCh37 Chromosome 1, 173879999: 173879999
34 SERPINC1 NM_000488.3(SERPINC1): c.667T> C (p.Ser223Pro) single nucleotide variant Pathogenic rs121909572 GRCh37 Chromosome 1, 173879987: 173879987
35 SERPINC1 NM_000488.3(SERPINC1): c.379T> C (p.Cys127Arg) single nucleotide variant Pathogenic rs121909573 GRCh37 Chromosome 1, 173883720: 173883720
36 SERPINC1 SERPINC1, 3-BP DEL deletion Pathogenic
37 SERPINC1 SERPINC1, 9-BP DEL, NT13395 deletion Pathogenic
38 SERPINC1 NM_000488.3(SERPINC1): c.462_464delCTT (p.Phe155del) deletion Pathogenic rs786204063 GRCh37 Chromosome 1, 173881097: 173881099
39 SERPINC1 NM_000488.3(SERPINC1): c.1060delC (p.Arg354Alafs) deletion Pathogenic rs863224495 GRCh37 Chromosome 1, 173878783: 173878783
40 SERPINC1 NM_000488.3(SERPINC1): c.662G> C (p.Trp221Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 173910854: 173910854
41 SERPINC1 NC_000001.11: g.(?_173903804)_(173917378_?)del deletion Pathogenic GRCh37 Chromosome 1, 173872942: 173886516

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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