MCID: HRD083
MIFTS: 20

Hereditary Antithrombin Deficiency malady

Blood diseases category
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Summaries for Hereditary Antithrombin Deficiency

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21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Hereditary Antithrombin Deficiency, also known as antithrombin iii deficiency, is related to antithrombin iii deficiency and venous thrombosis. An important gene associated with Hereditary Antithrombin Deficiency is SERPINC1 (serpin peptidase inhibitor, clade C (antithrombin), member 1). The drugs antithrombin iii, human and antithrombin iii,recombinant have been mentioned in the context of this disorder.

Aliases & Classifications for Hereditary Antithrombin Deficiency

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21Genetics Home Reference, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

hereditary antithrombin deficiency 21
antithrombin iii deficiency 21 62
congenital antithrombin iii deficiency 21


Related Diseases for Hereditary Antithrombin Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hereditary Antithrombin Deficiency:



Diseases related to hereditary antithrombin deficiency

Symptoms for Hereditary Antithrombin Deficiency

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Drugs & Therapeutics for Hereditary Antithrombin Deficiency

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Inferred drug relations via UMLS62/NDF-RT41:

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Genetic Tests for Hereditary Antithrombin Deficiency

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Anatomical Context for Hereditary Antithrombin Deficiency

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Animal Models for Hereditary Antithrombin Deficiency or affiliated genes

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Publications for Hereditary Antithrombin Deficiency

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52PubMed
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Articles related to Hereditary Antithrombin Deficiency:

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

Variations for Hereditary Antithrombin Deficiency

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Expression for genes affiliated with Hereditary Antithrombin Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Antithrombin Deficiency

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Pathways for genes affiliated with Hereditary Antithrombin Deficiency

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Compounds for genes affiliated with Hereditary Antithrombin Deficiency

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GO Terms for genes affiliated with Hereditary Antithrombin Deficiency

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Products for genes affiliated with Hereditary Antithrombin Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Antithrombin Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet