MCID: HRD083
MIFTS: 20

Hereditary Antithrombin Deficiency malady

Blood diseases category

Summaries for Hereditary Antithrombin Deficiency

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34MalaCards
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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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22Genetics Home Reference, 63UMLS
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Classifications:

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


Aliases & Descriptions:

hereditary antithrombin deficiency 22
antithrombin iii deficiency 22 63
congenital antithrombin iii deficiency 22


Related Diseases for Hereditary Antithrombin Deficiency

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS63/NDF-RT42:

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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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53PubMed
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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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet