MCID: ANT009
MIFTS: 59

Antithrombin Iii Deficiency malady

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

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MalaCards based summary: Antithrombin Iii Deficiency, also known as antithrombin iii, is related to hepatic vein thrombosis and purpura. 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 whole blood, testes and myeloid, and related mouse phenotypes are liver/biliary system and embryogenesis.

Aliases & Classifications for Antithrombin Iii Deficiency

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Antithrombin Iii Deficiency, Aliases & Descriptions:

Name: Antithrombin Iii Deficiency 8 10 44 62
 
Antithrombin Iii 9 20 22


Classifications:

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


External Ids:

Disease Ontology8 DOID:3755
SNOMED-CT57 36351005
MeSH34 D020152

Related Diseases for Antithrombin Iii Deficiency

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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 146)
idRelated DiseaseScoreTop Affiliating Genes
1hepatic vein thrombosis31.2PROS1
2purpura31.1SERPINC1
3thrombophlebitis31.1APOH
4coronary thrombosis31.1SERPINC1
5liver cirrhosis30.9F2, F10, SERPINC1
6factor xii deficiency30.8F5
7eclampsia30.7MTHFR, SERPINC1
8hypersplenism30.7F2
9amyloidosis30.7F10
10sepsis30.6F2, FGA, F5, SERPINC1, F10
11von willebrand's disease30.6F2, F5
12septic shock30.6F5, FGA, SERPINC1
13meningococcemia30.5SERPINC1, F5
14hypertension30.5MTHFR, F5, F2, PROS1
15homocystinuria30.5SERPINC1, MTHFR, F5
16retinal vein occlusion30.5SERPINC1, APOH, F5, MTHFR
17central retinal vein occlusion30.4APOH, MTHFR, F5
18sagittal sinus thrombosis30.4SERPINC1, PROS1, F5
19acute myocardial infarction30.4SERPINC1, F10, FGA
20hellp syndrome30.3F5, MTHFR, SERPINC1, APOH
21portal vein thrombosis30.2F2, SERPINC1, PROS1, MTHFR, F5
22acute lymphoblastic leukemia30.0MTHFR, FGA, SERPINC1
23systemic lupus erythematosus30.0F2, F10, FGA, APOH
24lupus erythematosus30.0APOH, F2, PROS1, SERPINC1, F5
25atherosclerosis30.0FGA, MTHFR, SERPINC1, APOH
26vasculitis29.9FGA, APOH, PROS1, F2
27myocardial infarction29.9MTHFR, F5, FGA, SERPINC1, F10
28venous thrombosis29.8F2, FGA, F5, MTHFR, PROS1, SERPINC1
29antiphospholipid syndrome29.8F2, F10, APOH, F5, MTHFR, PROS1
30disseminated intravascular coagulation29.8F2, SERPINC1, FGA, F5, F10
31diabetes mellitus29.7PROS1, F10, SERPINC1, MTHFR, FGA
32thromboembolism29.6F10, APOH, SERPIND1, SERPINC1, MTHFR, F5
33thrombocytopenia29.5F5, SERPINC1, APOH, F10, FGA, F2
34pulmonary embolism29.4MTHFR, PROS1, SERPINC1, APOH, F10, F2
35protein c deficiency29.2PROS1, SERPINC1, MTHFR, F5, SERPIND1, APOH
36pre-eclampsia29.2F10, F2, F5, MTHFR, SERPINC1, FGA
37protein s deficiency29.1APOH, SERPINC1, PROS1, MTHFR, F5, FGA
38thrombophilia28.5F2, F10, APOH, SERPIND1, PROS1, FGA
39nephrotic syndrome10.6
40congenital antithrombin deficiency type 310.6
41cerebritis10.5
42retinal artery occlusion10.5APOH
43blindness10.5
44hereditary antithrombin deficiency10.5
45branch retinal artery occlusion10.5F5
46patent foramen ovale10.5F5
47venous thromboembolism10.4
48endotheliitis10.4
49endocarditis10.4F10
50factor viii deficiency10.4F5

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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Drug clinical trials:

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Search NIH Clinical Center for Antithrombin Iii Deficiency

Inferred drug relations via UMLS62/NDF-RT40:

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Genetic Tests for Antithrombin Iii Deficiency

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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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MalaCards organs/tissues related to Antithrombin Iii Deficiency:

32
Whole blood, Testes, Myeloid

Animal Models for Antithrombin Iii Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Antithrombin Iii Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1SERPINC1, PROS1, F5, FGA
2MP:00053808.0F2, SERPINC1, PROS1, F5, FGA
3MP:00053897.9F2, F10, SERPINC1, MTHFR, FGA
4MP:00107717.9F2, PROS1, MTHFR, F5, FGA
5MP:00053977.8FGA, PROS1, SERPINC1, SERPIND1, F2
6MP:00036317.4F2, SERPINC1, PROS1, MTHFR, F5, FGA
7MP:00053857.1F2, F10, SERPIND1, SERPINC1, PROS1, F5
8MP:00053766.3FGA, F2, F10, APOH, SERPIND1, SERPINC1
9MP:00107686.3F2, F10, APOH, SERPIND1, SERPINC1, PROS1

Publications for Antithrombin Iii Deficiency

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Articles related to Antithrombin Iii Deficiency:

(show top 50)    (show all 243)
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
The transient increase of plasma thrombin-antithrombin III (TAT) complex levels in patients with congenital antithrombin III deficiency during antithrombin III administration is due to extraction of thrombin from fibrin. (1755000)
1991
25
A common point mutation producing type 1A antithrombin III deficiency: AT129 CGA to TGA (Arg to Stop). (1808766)
1991
26
Pulmonary thromboembolectomy of subacute massive pulmonary thromboembolism in a patient with familial antithrombin III deficiency]. (1940520)
1991
27
Replacement therapy in patients with hereditary antithrombin III deficiency. (2017690)
1991
28
Elimination of antithrombin III concentrate in healthy pregnant and preeclamptic women with an acquired antithrombin III deficiency. (2353344)
1990
29
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
30
Prophylaxis during surgery in antithrombin III deficiency with low dose of concentrates. (2617483)
1989
31
Neonatal antithrombin III deficiency. (2679071)
1989
32
Replacement therapy in antithrombin III deficiency. (2520559)
1989
33
Mechanisms of the development of acquired antithrombin III deficiency in the experimental nephrotic syndromes. (2465224)
1988
34
Molecular genetic survey of 16 kindreds with hereditary antithrombin III deficiency. (3663935)
1987
35
Hereditary antithrombin III deficiency in a Korean family. (3766082)
1986
36
Hereditary antithrombin III deficiency and pregnancy: report of two cases and review of the literature. (4039808)
1985
37
Effect of danazol on the biochemical abnormality of inherited antithrombin III deficiency. (4060104)
1985
38
Antithrombin III metabolism in two colitis patients with acquired antithrombin III deficiency. (4007429)
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
Factors influencing thrombosis in familial antithrombin III deficiency. (6186268)
1983
42
Severe acquired antithrombin III deficiency in relation to hepatic and renal insufficiency and intrauterine fetal death in late pregnancy. (6618278)
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, hypertriglyceridaemia, and venous thromboses. (630261)
1978
48
Familial thrombosis due to antithrombin III deficiency in a Greek family. (65891)
1977
49
Venous thrombosis, heparin-induced antithrombin III deficiency, and factor VIII. (73932)
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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Expression patterns in normal tissues for genes affiliated with Antithrombin Iii Deficiency

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Pathways for genes affiliated with Antithrombin Iii Deficiency

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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
9.2F2, FGA
29.2F2, FGA
3
Show member pathways
9.2F2, PROS1, F10
4
Show member pathways
8.7PROS1, F5, FGA
5
Show member pathways
7.6FGA, F5, F10, SERPINC1, F2, PROS1
6
Show member pathways
7.6F2, FGA, F5, SERPINC1, F10, PROS1
7
Show member pathways
6.9F2, F10, SERPIND1, SERPINC1, PROS1, F5
8
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
6.9F10, F2, FGA, F5, PROS1, SERPINC1

Compounds for genes affiliated with Antithrombin Iii Deficiency

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 2BitterDB, 50PharmGKB, 28IUPHAR
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Compounds related to Antithrombin Iii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 134)
idCompoundScoreTop Affiliating Genes
1organon449.7F2, SERPINC1, F10
2rivaroxaban44 1110.7F10, SERPINC1, F2
3inogatran449.6SERPINC1, F2, F5
4desogestrel44 1110.5F2, SERPINC1, F5
5tirofiban44 1110.5F2, F10, SERPINC1
6gestodene44 1110.4F5, SERPINC1, F2
7ecarin449.3F2, F10, SERPINC1, F5
8spectrozyme449.3F2, SERPINC1, F10, F5
9danaparoid449.3F5, F10, SERPINC1, F2
10ximelagatran44 1110.3F2, SERPINC1, F5, F10
11heparinoids449.3F2, F10, SERPINC1, F5
12fondaparinux449.3F5, SERPINC1, F10, F2
13kaolin449.3APOH, F2, F10, F5
14protamine sulfate449.3F5, SERPINC1, F10, F2
15dextran sulfate449.3F5, SERPINC1, APOH, F10
16coumarins449.3F2, F10, F5, APOH
17fibrinopeptide a449.3F2, SERPINC1, FGA
18cardiolipin44 1110.2APOH, F10, F2, F5
19benzamidine44 1110.2SERPINC1, F10, F5
20kininogen449.2F2, APOH, SERPINC1, F5
21nafamostat mesilate449.2F5, FGA, SERPINC1
22batroxobin449.1F2, F5, FGA
2311-dehydrothromboxane b2449.1F2, FGA, APOH
24polyethylene glycol449.1F2, F10, SERPINC1, F5
25gamma-carboxyglutamic acid449.1F2, F10, PROS1, F5
26ppack448.9F10, FGA, SERPINC1, F2
27menadione44 24 1110.9PROS1, F2, F10, MTHFR
28citrate448.9F10, F5, F2, SERPINC1
29hirugen448.9F2, SERPINC1, FGA, F5
30cacl2448.9FGA, F5, F10
31homocysteine44 249.8F5, APOH, F2, MTHFR, SERPINC1
32pge1448.7APOH, F2, F5, FGA
33dermatan sulfate448.7F2, F5, SERPIND1, F10, SERPINC1
34phospholipid448.6F5, F2, F10, APOH, PROS1
35ancrod448.5F2, FGA, F5, SERPINC1, F10
36bivalirudin44 119.5F10, F5, SERPINC1, F2, FGA
37argatroban44 119.5F5, FGA, SERPINC1, F10, F2
38coumarin44 2 50 2411.5F5, FGA, F10, SERPINC1, F2
39hirudin448.5F2, F10, SERPINC1, F5, FGA
40protamine448.5SERPINC1, F5, FGA, F10, F2
41aprotinin44 119.5FGA, F5, SERPINC1, F10, F2
42prostacyclin448.4SERPINC1, PROS1, F5, FGA, APOH
43estrogen448.0F10, F5, SERPINC1, MTHFR, APOH, F2
44lactate447.8APOH, FGA, F5, F10, F2
45warfarin44 50 24 1110.7F2, F10, APOH, SERPINC1, MTHFR, F5
46aspirin44 50 28 2410.7F2, F10, SERPINC1, MTHFR, FGA, APOH
47creatinine447.5F5, F2, APOH, SERPINC1, MTHFR, FGA
48fibrinogen447.1F5, MTHFR, SERPINC1, SERPIND1, F10, F2
49serine446.8F10, PROS1, F5, SERPIND1, SERPINC1, F2
50heparin44 28 24 119.5FGA, F5, MTHFR, PROS1, SERPINC1, SERPIND1

GO Terms for genes affiliated with Antithrombin Iii Deficiency

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

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

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

Sources for Antithrombin Iii Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet