MCID: ANT009
MIFTS: 60

Antithrombin Iii Deficiency malady

Genetic diseases (common), Blood diseases categories
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Summaries for Antithrombin Iii Deficiency

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65Wikipedia, 33MalaCards
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Wikipedia:65 Antithrombin (AT) is a small protein molecule that inactivates several enzymes of the coagulation... more...

MalaCards: Antithrombin Iii Deficiency, also known as antithrombin iii, is related to sepsis and venous thrombosis. An important gene associated with Antithrombin Iii Deficiency is SERPINC1 (serpin peptidase inhibitor, clade C (antithrombin), member 1), and among its related pathways are Integrin alphaIIb beta3 signaling and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. The drugs antithrombin iii, human and antithrombin iii,recombinant and the compounds organon and rivaroxaban have been mentioned in the context of this disorder. Affiliated tissues include liver, whole blood and testes, and related mouse phenotypes are liver/biliary system and embryogenesis.

Aliases & Classifications for Antithrombin Iii Deficiency

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8Disease Ontology, 9diseasecard, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 35MeSH
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Classifications:

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


Aliases & Descriptions:

antithrombin iii deficiency 8 10 45 62
antithrombin iii 9 20 22


External Ids:

Disease Ontology8 DOID:3755
SNOMED-CT58 36351005
MeSH35 D020152

Related Diseases for Antithrombin Iii Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Antithrombin Iii Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1sepsis31.0F2, F10, SERPINC1, F5, FGA
2venous thrombosis30.8MTHFR, PROS1, SERPINC1, APOH, F10, F2
3thromboembolism30.7FGA, F5, MTHFR, SERPINC1, F2, F10
4liver cirrhosis30.7SERPINC1, F10, F2
5septic shock30.7FGA, F5, SERPINC1
6hypertension30.6F5, MTHFR, PROS1, F2
7purpura30.6SERPINC1
8hepatic vein thrombosis30.6PROS1
9purpura fulminans30.6SERPINC1, F5
10pulmonary embolism30.5FGA, F5, MTHFR, PROS1, SERPINC1, APOH
11retinal vein occlusion30.5APOH, SERPINC1, MTHFR, F5
12thrombophlebitis30.5APOH
13coronary thrombosis30.4SERPINC1
14acute myocardial infarction30.4FGA, SERPINC1, F10
15antiphospholipid syndrome30.4F2, F10, APOH, SERPINC1, F5, MTHFR
16portal vein thrombosis30.4F5, MTHFR, PROS1, SERPINC1, F2
17eclampsia30.4MTHFR, SERPINC1
18homocystinuria30.4SERPINC1, MTHFR, F5
19von willebrand's disease30.3F2, F5
20protein s deficiency30.3F5, SERPINC1
21myocardial infarction30.3F10, SERPINC1, MTHFR, F5, FGA
22amyloidosis30.3F10
23hellp syndrome30.3APOH, SERPINC1, MTHFR, F5
24central retinal vein occlusion30.3F5, MTHFR, APOH
25sagittal sinus thrombosis30.3SERPINC1, PROS1, F5
26factor xii deficiency30.3F5
27hypersplenism30.2F2
28atherosclerosis30.2APOH, SERPINC1, MTHFR, FGA
29meningococcemia30.2F5, SERPINC1
30systemic lupus erythematosus30.2F2, F10, APOH, FGA
31lupus erythematosus30.2F2, APOH, SERPINC1, PROS1, F5
32vasculitis30.2FGA, PROS1, APOH, F2
33disseminated intravascular coagulation30.1F2, F10, SERPINC1, F5, FGA
34diabetes mellitus30.1FGA, MTHFR, PROS1, SERPINC1, F10
35thrombocytopenia30.1F2, F10, APOH, SERPINC1, F5, FGA
36coronary artery disease30.0FGA, MTHFR, F10
37protein c deficiency30.0F5, MTHFR, PROS1, SERPINC1, SERPIND1, APOH
38pre-eclampsia30.0F2, F10, APOH, SERPINC1, MTHFR, F5
39thrombophilia29.8FGA, F5, MTHFR, PROS1, SERPINC1, SERPIND1
40nephrotic syndrome10.6
41cerebritis10.5
42blindness10.5
43congenital antithrombin deficiency type 310.5
44hereditary antithrombin deficiency10.4
45venous thromboembolism10.4
46endotheliitis10.4
47leukemia10.3
48retinitis10.3
49angina pectoris10.2
50acute leukemia10.2

Graphical network of the top 20 diseases related to Antithrombin Iii Deficiency:



Diseases related to antithrombin iii deficiency

Symptoms for Antithrombin Iii Deficiency

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Drugs & Therapeutics for Antithrombin Iii Deficiency

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

Search ClinicalTrials for Antithrombin Iii Deficiency

Search NIH Clinical Center for Antithrombin Iii Deficiency

Inferred drug relations via UMLS62/NDF-RT41:

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Genetic Tests for Antithrombin Iii Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Antithrombin Iii Deficiency:

id Genetic test Affiliating Genes
1 Antithrombin-Iii Deficiency20 SERPINC1
2 Antithrombin Iii Deficiency22

Anatomical Context for Antithrombin Iii Deficiency

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33MalaCards
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MalaCards organs/tissues related to Antithrombin Iii Deficiency:

33
Liver, Whole blood, Testes, Myeloid

Animal Models for Antithrombin Iii Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Antithrombin Iii Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1PROS1, F5, FGA, SERPINC1
2MP:00053808.0SERPINC1, PROS1, FGA, F5, F2
3MP:00053897.9F10, FGA, SERPINC1, MTHFR, F2
4MP:00107717.9FGA, PROS1, MTHFR, F2, F5
5MP:00053977.8FGA, PROS1, SERPINC1, SERPIND1, F2
6MP:00036317.4F2, MTHFR, PROS1, F5, FGA, SERPINC1
7MP:00053857.1F2, F10, SERPIND1, SERPINC1, PROS1, F5
8MP:00053766.3F2, FGA, F5, MTHFR, APOH, PROS1
9MP:00107686.3F5, F2, APOH, PROS1, SERPIND1, F10

Publications for Antithrombin Iii Deficiency

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52PubMed
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Articles related to Antithrombin Iii Deficiency:

(show top 50)    (show all 244)
idTitleAuthorsYear
1
A huge intracardiac thrombus developed in the presence of antithrombin III deficiency in a patient with end-stage renal failure. (24164998)
2013
2
Successful pulmonary embolectomy in a 4-year-old girl with antithrombin III deficiency. (20143056)
2010
3
A model for the formation, growth, and lysis of clots in quiescent plasma. A comparison between the effects of antithrombin III deficiency and protein C deficiency. (18539301)
2008
4
Acquired angioedema associated with primary antiphospholipid syndrome in a patient with antithrombin III deficiency. (18204284)
2008
5
Superior mesenteric and portal vein thrombosis caused by congenital antithrombin III deficiency: report of a case. (17387563)
2007
6
Vena cava superior syndrome developing in a dialysis patient with antithrombin III deficiency following temporary catheterization. (16429847)
2006
7
Mesenteric venous thrombosis in a patient with prothrombin 20210A mutation and antithrombin III deficiency: challenges to conventional anticoagulation--a case report. (12894373)
2003
8
Livedoid vasculitis with ulcerations: the role of antithrombin III deficiency and its therapeutic consequences. (12056979)
2002
9
A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency. (11754060)
2001
10
Familial antithrombin-III deficiency during cardiopulmonary bypass: a case report. (11131221)
2000
11
Congenital antithrombin III deficiency in pregnancy treated with low-molecular-weight heparin. (15512479)
2000
12
Antithrombin III deficiency in a patient with multifocal osteonecrosis. (10987006)
2000
13
A case of ovarian hyperstimulation syndrome in which antithrombin III deficiency occurred because of its loss into ascites. (10231046)
1999
14
Protein C, protein S and antithrombin III deficiencies in retinal vein occlusion. (10634552)
1999
15
Chronic pulmonary thromboendarterectomy complicated by antithrombin III deficiency and antiphospholipid syndrome. (9884556)
1998
16
Aortic thrombosis in a neonate with hereditary antithrombin III deficiency: successful outcome with thrombolytic and replacement treatment. (8640060)
1996
17
Portal vein thrombosis due to antithrombin III deficiency. A case report. (7486227)
1995
18
Antithrombin III replacement in animal models of acquired antithrombin III deficiency. (8186355)
1994
19
Detection of multiple thromboembolism in congenital antithrombin III deficiency with indium-111-platelet scintigraphy. (7965163)
1994
20
Homozygous or compound heterozygous qualitative antithrombin III deficiency. (7971256)
1994
21
Overtight nappy precipitating thrombosis in antithrombin III deficiency. (8257185)
1993
22
Measurement of markers of activated coagulation in antithrombin III deficient subjects. (1519214)
1992
23
Two new nonsense mutations in type Ia antithrombin III deficiency at Leu 140 and Arg 197. (1360174)
1992
24
A common point mutation producing type 1A antithrombin III deficiency: AT129 CGA to TGA (Arg to Stop). (1808766)
1991
25
Pulmonary thromboembolectomy of subacute massive pulmonary thromboembolism in a patient with familial antithrombin III deficiency]. (1940520)
1991
26
Replacement therapy in patients with hereditary antithrombin III deficiency. (2017690)
1991
27
Elimination of antithrombin III concentrate in healthy pregnant and preeclamptic women with an acquired antithrombin III deficiency. (2353344)
1990
28
Evaluation of the safety, recovery, half-life, and clinical efficacy of antithrombin III (human) in patients with hereditary antithrombin III deficiency. Cooperative Study Group. (2403821)
1990
29
Prophylaxis during surgery in antithrombin III deficiency with low dose of concentrates. (2617483)
1989
30
Neonatal antithrombin III deficiency. (2679071)
1989
31
Replacement therapy in antithrombin III deficiency. (2520559)
1989
32
Mechanisms of the development of acquired antithrombin III deficiency in the experimental nephrotic syndromes. (2465224)
1988
33
Molecular genetic survey of 16 kindreds with hereditary antithrombin III deficiency. (3663935)
1987
34
Hereditary antithrombin III deficiency in a Korean family. (3766082)
1986
35
Hereditary antithrombin III deficiency and pregnancy: report of two cases and review of the literature. (4039808)
1985
36
Effect of danazol on the biochemical abnormality of inherited antithrombin III deficiency. (4060104)
1985
37
Antithrombin III metabolism in two colitis patients with acquired antithrombin III deficiency. (4007429)
1985
38
Prevalence of antithrombin III deficiency in blood donors selected for personal or familial history of venous thrombosis. (4059797)
1985
39
Prophylactic antithrombotic therapy with stanozolol in patients with familial antithrombin III deficiency. (6743570)
1984
40
Heparin cofactor II determination--levels in normals and patients with hereditary antithrombin III deficiency and disseminated intravascular coagulation. (6395434)
1984
41
Antithrombin III deficiency in Nigerian sicklers--possible predisposition to thrombotic crises. (6545202)
1984
42
Factors influencing thrombosis in familial antithrombin III deficiency. (6186268)
1983
43
Arterial thrombosis and accelerated atheroma in a member of a family with familial antithrombin III deficiency. (7100022)
1982
44
Acute aortic thrombosis in antithrombin III deficiency. (7218490)
1981
45
Antithrombin III deficiency in surgical intensive care patients. (7233404)
1981
46
Acquired antithrombin III deficiency in patients with glomerular proteinuria. (689489)
1978
47
Antithrombin III deficiency in diabetes mellitus: influence on vascular degenerative complications. (744566)
1978
48
Antithrombin III deficiency, hypertriglyceridaemia, and venous thromboses. (630261)
1978
49
Familial thrombosis due to antithrombin III deficiency in a Greek family. (65891)
1977
50
Hereditary antithrombin III deficiency. Effect of antithrombin III deficiency on platelet function. (952292)
1976

Variations for Antithrombin Iii Deficiency

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Expression for genes affiliated with Antithrombin Iii Deficiency

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

Search GEO for disease gene expression data for Antithrombin Iii Deficiency.

Pathways for genes affiliated with Antithrombin Iii Deficiency

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50PathCards, 55Reactome, 51PharmGKB, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 54R&D Systems
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Pathways related to Antithrombin Iii Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2FGA, F2
29.2FGA, F2
3
Show member pathways
9.2F2, F10, PROS1
4
Show member pathways
8.7FGA, F5, PROS1
5
Show member pathways
7.6F2, F10, SERPINC1, PROS1, F5, FGA
6
Show member pathways
7.6F2, F10, SERPINC1, PROS1, F5, FGA
7
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
6.9F2, F10, SERPIND1, SERPINC1, PROS1, F5
8
Show member pathways
6.9FGA, F2, F10, SERPIND1, SERPINC1, PROS1

Compounds for genes affiliated with Antithrombin Iii Deficiency

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45Novoseek, 11DrugBank, 24HMDB, 3BitterDB, 51PharmGKB, 29IUPHAR
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Compounds related to Antithrombin Iii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 134)
idCompoundScoreTop Affiliating Genes
1organon459.7F2, SERPINC1, F10
2rivaroxaban45 1110.7F10, SERPINC1, F2
3inogatran459.6SERPINC1, F2, F5
4desogestrel45 1110.5F2, SERPINC1, F5
5tirofiban45 1110.5F2, F10, SERPINC1
6gestodene45 1110.4F5, SERPINC1, F2
7ecarin459.3F2, F10, SERPINC1, F5
8spectrozyme459.3F2, SERPINC1, F10, F5
9danaparoid459.3F5, F10, SERPINC1, F2
10ximelagatran45 1110.3F2, SERPINC1, F5, F10
11heparinoids459.3F2, F10, SERPINC1, F5
12fondaparinux459.3F5, SERPINC1, F10, F2
13kaolin459.3APOH, F2, F10, F5
14protamine sulfate459.3F5, SERPINC1, F10, F2
15dextran sulfate459.3F5, SERPINC1, APOH, F10
16coumarins459.3F2, F10, F5, APOH
17fibrinopeptide a459.3F2, SERPINC1, FGA
18cardiolipin45 1110.2APOH, F10, F2, F5
19benzamidine45 1110.2SERPINC1, F10, F5
20kininogen459.2F2, APOH, SERPINC1, F5
21nafamostat mesilate459.2F5, FGA, SERPINC1
22batroxobin459.1F2, F5, FGA
2311-dehydrothromboxane b2459.1F2, FGA, APOH
24polyethylene glycol459.1F2, F10, SERPINC1, F5
25gamma-carboxyglutamic acid459.1F2, F10, PROS1, F5
26ppack458.9F10, FGA, SERPINC1, F2
27menadione45 24 1110.9PROS1, F2, F10, MTHFR
28citrate458.9F10, F5, F2, SERPINC1
29hirugen458.9F2, SERPINC1, FGA, F5
30cacl2458.9FGA, F5, F10
31homocysteine45 249.8F5, APOH, F2, MTHFR, SERPINC1
32pge1458.7APOH, F2, F5, FGA
33dermatan sulfate458.7F2, F5, SERPIND1, F10, SERPINC1
34phospholipid458.6F5, F2, F10, APOH, PROS1
35ancrod458.5F2, FGA, F5, SERPINC1, F10
36bivalirudin45 119.5F10, F5, SERPINC1, F2, FGA
37argatroban45 119.5F5, FGA, SERPINC1, F10, F2
38coumarin45 3 51 2411.5F5, FGA, F10, SERPINC1, F2
39hirudin458.5F2, F10, SERPINC1, F5, FGA
40protamine458.5SERPINC1, F5, FGA, F10, F2
41aprotinin45 119.5FGA, F5, SERPINC1, F10, F2
42prostacyclin458.4SERPINC1, PROS1, F5, FGA, APOH
43estrogen458.0F10, F5, SERPINC1, MTHFR, APOH, F2
44lactate457.8APOH, FGA, F5, F10, F2
45warfarin45 51 24 1110.7F2, F10, APOH, SERPINC1, MTHFR, F5
46aspirin45 51 29 2410.7F2, F10, SERPINC1, MTHFR, FGA, APOH
47creatinine457.5F5, F2, APOH, SERPINC1, MTHFR, FGA
48fibrinogen457.1F5, MTHFR, SERPINC1, SERPIND1, F10, F2
49serine456.8F10, PROS1, F5, SERPIND1, SERPINC1, F2
50heparin45 29 24 119.5FGA, F5, MTHFR, PROS1, SERPINC1, SERPIND1

GO Terms for genes affiliated with Antithrombin Iii Deficiency

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16Gene Ontology
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Cellular components related to Antithrombin Iii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:0057969.2PROS1, F10, F2
2blood microparticleGO:0725628.4F2, SERPINC1, PROS1, FGA
3platelet alpha granule lumenGO:0310938.4FGA, F5, PROS1
4extracellular spaceGO:0056157.4F2, APOH, SERPIND1, SERPINC1, F5, FGA
5extracellular regionGO:0055767.0FGA, F5, PROS1, SERPINC1, SERPIND1, F10

Biological processes related to Antithrombin Iii Deficiency according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fibrinolysisGO:0519189.9F2, APOH
2positive regulation of blood coagulationGO:0301949.8APOH, F2
3fibrinolysisGO:0427309.6PROS1, F2
4blood coagulation, intrinsic pathwayGO:0075979.6APOH, F10, F2
5regulation of proteolysisGO:0301629.5SERPINC1, SERPIND1
6peptidyl-glutamic acid carboxylationGO:0171879.4F2, F10, PROS1
7blood circulationGO:0080159.2F5, MTHFR
8negative regulation of endopeptidase activityGO:0109519.2PROS1, SERPINC1, SERPIND1
9proteolysisGO:0065089.2F2, F10, PROS1
10post-translational protein modificationGO:0436879.1PROS1, F10, F2
11platelet degranulationGO:0025768.9PROS1, F5, FGA
12platelet activationGO:0301688.5FGA, F5, PROS1, F2
13blood coagulationGO:0075967.2FGA, F5, PROS1, SERPINC1, SERPIND1, F10

Molecular functions related to Antithrombin Iii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:0055439.8APOH, F10
2heparin bindingGO:0082019.2SERPINC1, SERPIND1, APOH
3serine-type endopeptidase activityGO:0042529.1F2, F10, F5
4endopeptidase inhibitor activityGO:0048669.0PROS1, SERPIND1

Products for genes affiliated with Antithrombin Iii Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Antithrombin Iii 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