MCID: HRD083
MIFTS: 21

Hereditary Antithrombin Deficiency malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Hereditary Antithrombin Deficiency

Aliases & Descriptions for Hereditary Antithrombin Deficiency:

Name: Hereditary Antithrombin Deficiency 50 25 69
Antithrombin Iii Deficiency 50 25 69
Congenital Antithrombin Iii Deficiency 50 25
Hereditary Thrombophilia Due to Congenital Antithrombin 3 Deficiency 50
Hereditary Thrombophilia Due to Congenital Antithrombin Deficiency 50
Thrombophilia Due to Antithrombin Iii Deficiency 50
Inherited Antithrombin Deficiency 50
Congenital at-Iii Deficiency 50

Classifications:



Summaries for Hereditary Antithrombin Deficiency

NIH Rare Diseases : 50 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 thrombophilia due 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.

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:

id Related Disease Score Top Affiliating Genes
1 thrombophilia due to antithrombin iii deficiency 12.4
2 hereditary antithrombin deficiency type i 12.1
3 hereditary antithrombin deficiency type 2 12.0
4 thrombocytopenia 9.7
5 thrombosis 9.7
6 thrombophilia 9.7
7 heparin-induced thrombocytopenia 9.7

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 24)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4,Phase 2 9005-49-6 772 46507594
2
Dalteparin Approved Phase 4 9041-08-1
3
Benzocaine Approved 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,Phase 2
6 Heparin, Low-Molecular-Weight Phase 4
7 Fibrinolytic Agents Phase 4
8 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
10 Serine Proteinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
11 HIV 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 Calcium, Dietary Phase 4
15 serine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Thrombin Phase 2, Phase 3,Early Phase 1
17 Vaccines Phase 3
18 Coagulants Phase 2
19 Hemostatics Phase 2
20 Anesthetics Phase 2
21 Factor VIII
22 Thromboplastin
23 Factor Xa Inhibitors
24 Lipoprotein-associated coagulation inhibitor

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4
2 Atenativ Effect on Uterine Blood Flow and Preeclampsia Recruiting NCT02278575 Phase 4
3 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4
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
7 Use of Antithrombin in Cardiac Surgery With Cardiopulmonary Bypass Completed NCT00823082 Phase 2
8 Anti-thrombin III (ATIII) vs Placebo in Children (<7mo) Undergoing Open Congenital Cardiac Surgery Completed NCT02103114 Phase 2
9 A Study of KW-3357 in Congenital Antithrombin Deficiency Completed NCT00938288 Phase 1
10 Evaluation Of The Pharmacokinetics Of Antithrombin III In Neonates And Infants Undergoing CPB And ECMO Support Recruiting NCT02631174 Phase 1
11 Tissue Factor Pathway Inhibitor (TFPI) and Haemorrhagic Manifestations in Haemophilia A and B Patients Completed NCT02540187
12 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" Recruiting NCT02503267
13 Response of Continuous Recombinant Antithrombin Infusion in Postcardiotomy ECMO Patients Not yet recruiting NCT03090893 Early Phase 1

Search NIH Clinical Center for Hereditary Antithrombin Deficiency

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Hereditary Antithrombin Deficiency

Anatomical Context for Hereditary Antithrombin Deficiency

MalaCards organs/tissues related to Hereditary Antithrombin Deficiency:

39
Lung

Publications for Hereditary Antithrombin Deficiency

Articles related to Hereditary Antithrombin Deficiency:

(show all 22)
id Title Authors Year
1
Issues in the Diagnosis and Management of Hereditary Antithrombin Deficiency. ( 27281301 )
2016
2
Recombinant Human Antithrombin in Pregnant Patients with Hereditary Antithrombin Deficiency: Integrated Analysis of Clinical Data. ( 26461927 )
2015
3
Perioperative and peripartum prevention of venous thromboembolism in patients with hereditary antithrombin deficiency using recombinant antithrombin therapy. ( 24686101 )
2014
4
Pharmacokinetics of Recombinant Human Antithrombin in Delivery and Surgery Patients With Hereditary Antithrombin Deficiency. ( 24335249 )
2013
5
Prevention, management and extent of adverse pregnancy outcomes in women with hereditary antithrombin deficiency. ( 23999648 )
2013
6
Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency. ( 24196373 )
2013
7
Quite a backup: pericardial varices in a patient with hereditary antithrombin deficiency. ( 23833730 )
2013
8
Prevention and treatment of venous thromboembolism in pregnancy in patients with hereditary antithrombin deficiency. ( 23662090 )
2013
9
How I treat heterozygous hereditary antithrombin deficiency in pregnancy. ( 23903049 )
2013
10
Argatroban therapy for heparin-induced thrombocytopenia during pregnancy in a woman with hereditary antithrombin deficiency. ( 22380425 )
2012
11
A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. ( 21325262 )
2011
12
Neuraxial anesthesia for labor and cesarean delivery in a parturient with hereditary antithrombin deficiency on recombinant human antithrombin infusion therapy. ( 20868967 )
2010
13
Role of antithrombin concentrate in treatment of hereditary antithrombin deficiency. An update. ( 19404531 )
2009
14
[Pregnancy and delivery in type II hereditary antithrombin deficient patients]. ( 19177736 )
2008
15
Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA). ( 18208532 )
2008
16
[Olav Egeberg--hereditary antithrombin deficiency and thrombophilia]. ( 11301618 )
2001
17
A novel splice site mutation in a Brazilian patient with hereditary antithrombin deficiency type I. ( 10077734 )
1999
18
[Hereditary antithrombin deficiency and pregnancy. Pregnancy course in six women with known hereditary antithrombin deficiency]. ( 9850619 )
1998
19
Analysis for antithrombin gene polymorphisms in Japanese subjects and cosegregation studies in families with hereditary antithrombin deficiency. ( 8732631 )
1996
20
Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. ( 7994035 )
1994
21
Termination of pregnancy in a woman with hereditary antithrombin deficiency under antithrombotic protection with subcutaneous heparin and infusion of plasma. ( 7262640 )
1981
22
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 40)
id 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 SERPINC1 undetermined variant Pathogenic
4 SERPINC1 SERPINC1 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 SERPINC1 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 SERPINC1 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 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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