MCID: ANT009
MIFTS: 57

Antithrombin Iii Deficiency malady

Blood diseases category

Summaries for Antithrombin Iii Deficiency

About this section
Sources:
32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Antithrombin Iii Deficiency, also known as antithrombin iii, is related to nephrotic syndrome and pulmonary embolism. An important gene associated with Antithrombin Iii Deficiency is SERPINC1 (serpin peptidase inhibitor, clade C (antithrombin), member 1), and among its related pathways are Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and Syndecan-4-mediated signaling events. The drugs antithrombin iii, human and antithrombin iii,recombinant and the compounds cardiolipin and estrogen have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and whole blood, and related mouse phenotypes are reproductive system and cardiovascular system.

Aliases & Classifications for Antithrombin Iii Deficiency

About this section
Sources:
8Disease Ontology, 9diseasecard, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

antithrombin iii deficiency 8 10 44 60
antithrombin iii 9 20 22


External Ids:

Disease Ontology8 DOID:3755
SNOMED-CT56 36351005
MeSH34 D020152

Related Diseases for Antithrombin Iii Deficiency

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome30.8SERPINC1, FGA
2pulmonary embolism30.7APOH, F5, MTHFR, F10, PROS1, FGA
3protein s deficiency30.6F5, SERPINC1
4protein c deficiency30.6APOH, F5, SERPIND1, SERPINC1, PLG, F2
5liver cirrhosis30.6F2, SERPINC1, F10
6hypertension30.6MTHFR, PROS1, PLG, F5, F2
7portal vein thrombosis30.5F5, MTHFR, PROS1, F2, SERPINC1
8antiphospholipid syndrome30.5F5, MTHFR, PROS1, F2, SERPINC1, APOH
9factor x deficiency30.4F5, F2, F10
10prothrombin deficiency30.4SERPINC1, F2, F5, APOH
11retinal vein occlusion30.4APOH, F5, MTHFR, SERPINC1
12acute leukemia30.4JAK2, MTHFR, FGA
13leukemia30.4FGA, JAK2, F10, PLG, MTHFR
14myocardial infarction30.4PLG, F10, SERPINC1, MTHFR, F5, FGA
15purpura30.4SERPINC1
16hepatic vein thrombosis30.4PROS1
17acute myocardial infarction30.4F10, FGA, PLG, SERPINC1
18hepatitis a30.2F2
19factor xii deficiency30.2F5
20homocystinuria30.2MTHFR, F5, SERPINC1
21hellp syndrome30.2F5, SERPINC1, APOH, MTHFR
22ovarian cancer30.2FGA, PLG, JAK2
23atherosclerosis30.2FGA, APOH, SERPINC1, MTHFR, PLG
24thrombophlebitis30.2APOH
25coronary thrombosis30.2SERPINC1
26ovarian hyperstimulation syndrome30.2F5
27amyloidosis30.2F10
28factor viii deficiency30.2F5
29pneumonia30.2FGA
30hepatitis30.2F2, F10
31eclampsia30.2SERPINC1, MTHFR
32stroke, ischemic30.2F5, F2
33factor v deficiency30.2F5, F2
34von willebrand's disease30.2F2, F5
35severe pre-eclampsia30.2SERPINC1, F5, APOH
36central retinal vein occlusion30.2APOH, F5, MTHFR
37intracranial thrombosis30.2PLG, F5
38factor vii deficiency30.2SERPINC1, F10, F5, F2
39sagittal sinus thrombosis30.2F5, PROS1, SERPINC1
40proteinuria30.2FGA, PLG, APOH
41systemic lupus erythematosus30.2APOH, FGA, F2, F10
42disseminated intravascular coagulation30.2F2, F5, F10, FGA, SERPINC1
43ischemia30.2F10, JAK2, PLG, FGA
44vasculitis30.2FGA, APOH, F2, PROS1
45lupus erythematosus30.2F2, SERPINC1, APOH, F5, PROS1
46pre-eclampsia30.1APOH, MTHFR, F10, FGA, F2, SERPINC1
47thrombocytopenia30.1FGA, PLG, SERPINC1, APOH, F2, F5
48diabetes mellitus30.1F10, MTHFR, FGA, PROS1, PLG, SERPINC1
49thrombophilia30.1APOH, F5, MTHFR, F10, PROS1, FGA
50peritonitis30.0F2

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



Diseases related to antithrombin iii deficiency

Clinical Features for Antithrombin Iii Deficiency

About this section

Drugs & Therapeutics for Antithrombin Iii Deficiency

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Antithrombin Iii Deficiency

Drug clinical trials:

Search ClinicalTrials for Antithrombin Iii Deficiency

Search NIH Clinical Center for Antithrombin Iii Deficiency

Search CenterWatch for Antithrombin Iii Deficiency

Inferred drug relations via UMLS60/NDF-RT40:

Show with subtypes

Genetic Tests for Antithrombin Iii Deficiency

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Antithrombin Iii Deficiency:

32
Testes, Liver, Whole blood, Myeloid

Animal Models for Antithrombin Iii Deficiency or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Antithrombin Iii Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.4SERPINC1, PLG, MTHFR, F10, FGA
2MP:00053858.4F10, FGA, F2, PLG, SERPIND1
3MP:00107718.3PLG, F2, FGA, PROS1
4MP:00053707.8PROS1, FGA, PLG, SERPINC1, F5
5MP:00053807.6JAK2, F2, SERPINC1, FGA, PROS1, F5
6MP:00053977.5SERPINC1, F2, FGA, PROS1, JAK2, SERPIND1
7MP:00036316.8F2, PLG, F5, MTHFR, PROS1, SERPINC1
8MP:00053765.7SERPINC1, PLG, APOH, JAK2, F5, MTHFR
9MP:00107685.7JAK2, APOH, F5, F2, MTHFR, FGA

Publications for Antithrombin Iii Deficiency

About this section
Sources:
50PubMed
See all sources

Articles related to Antithrombin Iii Deficiency:

(show top 50)    (show all 283)
idTitleAuthorsYear
1
Early graft thrombosis due to antithrombin III deficiency following CABG. (21327876)
2011
2
Simultaneous thromboses of double coronary arteries in a young male with antithrombin III deficiency. (19931780)
2009
3
Acquired angioedema associated with primary antiphospholipid syndrome in a patient with antithrombin III deficiency. (18204284)
2008
4
Hereditary deficiencies of antithrombin III, protein S, and the protein C pathway in Jordanian thrombosis patients. (12776777)
2002
5
A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency. (11754060)
2001
6
Intracranial venous thrombosis associated with severe antithrombin-III deficiency in pregnancy. (11396643)
2001
7
Congenital antithrombin III deficiency in pregnancy treated with low-molecular-weight heparin. (15512479)
2000
8
Plasma antithrombin III deficiency in ischaemic stroke in the young. (10402346)
1999
9
Acquired antithrombin III deficiency secondary to asparaginase therapy in childhood acute lymphoblastic leukaemia. (8186353)
1994
10
Clinical manifestations and management of inherited thrombophilia: retrospective analysis and follow-up after diagnosis of 238 patients with congenital deficiency of antithrombin III, protein C, protein S. (7855783)
1994
11
Perioperative management of a patient with congenital antithrombin III deficiency. (15278504)
1993
12
Venous thrombosis: antithrombin III deficiency. (8217045)
1993
13
Are oral contraceptives a more important risk factor than pregnancy in women with congenital antithrombin III deficiency? (8292733)
1993
14
Cerebral infarction, livedo reticularis, and familial deficiency in antithrombin-III. (1561697)
1992
15
Recurrent renal vein thrombosis and renal failure associated with antithrombin-III deficiency. (1571206)
1992
16
Thrombosis in antithrombin-III deficiency. (1416567)
1992
17
Thrombosis in antithrombin-III-deficient persons. Report of a large kindred and literature review. (1489375)
1992
18
Anticoagulant therapy in a congenital antithrombin III (ATIII)-deficient patient with chronic renal failure undergoing regular hemodialysis. (1751668)
1991
19
Genetic diagnosis of qualitative and quantitative antithrombin III deficiencies. (1766842)
1991
20
Cerebral venous thrombosis associated with antithrombin III deficiency. (1759929)
1991
21
Emergency treatment with recombinant tissue plasminogen activator of pulmonary embolism in a pregnant woman with antithrombin III deficiency. (2121034)
1990
22
Replacement therapy in antithrombin III deficiency. (2520559)
1989
23
Congenital antithrombin III deficiency: insights into the pathogenesis of the hypercoagulable state and its management using markers of hemostatic system activation. (2679069)
1989
24
Oxymetholone therapy in patients with familial antithrombin III deficiency. (3238652)
1988
25
Antithrombin III microheterogeneity in antithrombin III deficiency and in the antithrombin III abnormality, "antithrombin III Toyama". (3116713)
1987
26
Mesenteric venous thrombosis and antithrombin III deficiency. (3654990)
1987
27
Cerebral thromboembolism due to antithrombin III deficiency in two children. (3561706)
1987
28
Effect of danazol on the biochemical abnormality of inherited antithrombin III deficiency. (4060104)
1985
29
Unusual widespread arterial involvement in hereditary antithrombin III deficiency. (3924768)
1985
30
Prophylactic antithrombotic therapy with stanozolol in patients with familial antithrombin III deficiency. (6743570)
1984
31
Heparin cofactor II determination--levels in normals and patients with hereditary antithrombin III deficiency and disseminated intravascular coagulation. (6395434)
1984
32
Antithrombin III deficiency in Nigerian sicklers--possible predisposition to thrombotic crises. (6545202)
1984
33
Hereditary antithrombin III deficiency and venous thrombosis. (6379481)
1984
34
Factors influencing thrombosis in familial antithrombin III deficiency. (6186268)
1983
35
Molecular heterogeneity of inherited antithrombin III deficiency. (6621648)
1983
36
L-asparaginase induced antithrombin III deficiency: evidence against the production of a hypercoagulable state. (6857592)
1983
37
Antithrombin III deficiency in an Indian family. (7179213)
1982
38
Aortic thrombosis in antithrombin III deficiency. (7057600)
1982
39
Recurrent arterial and venous thrombosis due to an acquired antithrombin III deficiency? (6815019)
1982
40
Incidence of thrombosis in inherited antithrombin III deficiency. (7344175)
1981
41
Antithrombin III deficiency appearing as mesenteric vein thrombosis. (7331986)
1981
42
Familial functional antithrombin III deficiency. (7375809)
1980
43
Inferior vena cava thrombosis in a child with familial antithrombin III deficiency. (7404484)
1980
44
A South African family with antithrombin III deficiency. (7423286)
1980
45
Acquired antithrombin III deficiency in patients with glomerular proteinuria. (689489)
1978
46
Antithrombin III deficiency in diabetes mellitus: influence on vascular degenerative complications. (744566)
1978
47
Linkage relationships of dominant antithrombin III deficiency and the heterochromatic region of chromosome 1. (752496)
1978
48
Severe antithrombin III deficiency in an infant associated with multiple arterial and venous thromboses. (65797)
1976
49
Proceedings: Inherited antithrombin III deficiency and thrombo-embolism. (1188834)
1975
50
Proceedings: The significance of the chronic anticoagulant treatment in recurrent thromboembolie caused by hereditary antithrombin III deficiency. (1188835)
1975

Genetic Variations for Antithrombin Iii Deficiency

About this section

Expression for genes affiliated with Antithrombin Iii Deficiency

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB, 51QIAGEN, 52R&D Systems, 29KEGG
See all sources

Pathways related to Antithrombin Iii Deficiency according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PLG, F2
29.5PLG, F2
39.1MTHFR, F2, PLG
4
Hide members
9.1JAK2, FGA, F2
5
Hide members
9.0F2, PROS1, F10
69.0F2, PROS1, F10
7
Hide members
9.0FGA, F2, PLG
8
Development PDGF signaling via STATs and NF-kB
Hide members
9.0PLG, F2, JAK2
9
Hide members
8.7PLG, PROS1, F10
10
Hide members
8.5PROS1, F10, F5, JAK2
11
Hide members
8.1F5, PROS1, FGA, PLG
12
Hide members
7.8SERPINC1, F2, FGA, PROS1, F10, F5
13
Hide members
7.2F5, F10, PROS1, FGA, F2, PLG
14
Hide members
6.8PROS1, F10, F5, FGA, F2, PLG
15
Hide members
6.8SERPINC1, SERPIND1, PLG, F2, FGA, PROS1

Compounds for genes affiliated with Antithrombin Iii Deficiency

About this section
Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 2BitterDB, 28IUPHAR
See all sources

Compounds related to Antithrombin Iii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 146)
idCompoundScoreTop Affiliating Genes
1cardiolipin44 1111.5F10
2estrogen4410.3APOH
3coumarins4410.2F10, APOH
4inogatran449.8SERPINC1, F2, F5
5organon449.8F2, F10, SERPINC1
6warfarin44 49 11 2412.8APOH, SERPINC1, FGA
7rivaroxaban44 1110.8SERPINC1, F2, F10
8fibrinopeptide a449.6SERPINC1, FGA, F2
9ecarin449.6F5, F2, SERPINC1, F10
10nafamostat mesilate449.6SERPINC1, FGA, F5
11spectrozyme449.6F2, SERPINC1, F5, F10
12danaparoid449.6F10, F2, SERPINC1, F5
13desogestrel44 1110.6SERPINC1, F2, F5
14ximelagatran44 1110.6F2, SERPINC1, F10, F5
15heparinoids449.6SERPINC1, F2, F5, F10
16fondaparinux449.6SERPINC1, F10, F2, F5
17kaolin449.6F10, F5, APOH, F2
18protamine sulfate449.5SERPINC1, F2, F10, F5
19batroxobin449.5F5, F2, FGA
20gestodene44 1110.5SERPINC1, F2, F5
21aprotinin44 1110.4SERPINC1, FGA, F5, F10
22ppack449.4SERPINC1, F2, FGA, F10
23hirugen449.4SERPINC1, F2, F5, FGA
2411-dehydrothromboxane b2449.4APOH, F2, FGA
25dextran sulfate449.3F10, F5, JAK2, APOH
26benzamidine44 1110.3F5, PLG, SERPINC1, F10
27tranexamic acid44 1110.1PLG, F2, SERPINC1
28Alpha-D-Mannose119.1SERPINC1, APOH, SERPIND1, FGA
29dermatan sulfate449.1F2, SERPINC1, SERPIND1, F10, F5
30ancrod449.1FGA, F10, F5, SERPINC1, F2
31bivalirudin44 1110.1F10, FGA, F2, F5, SERPINC1
32argatroban44 1110.1F2, FGA, F10, F5, SERPINC1
33homocysteine44 2410.1APOH, F5, SERPINC1, F2, MTHFR
34Drotrecogin alfa119.1F2, PROS1, F5
35coumarin44 2 49 2412.1F10, FGA, F5, F2, SERPINC1
36hirudin449.1SERPINC1, F2, FGA, F10, F5
37protamine449.0F5, F10, F2, SERPINC1, FGA
38gamma-carboxyglutamic acid449.0F2, PROS1, F10, F5
39pge1448.9APOH, F5, FGA, F2
40kininogen448.9APOH, SERPINC1, PLG, F2, F5
41menadione44 11 2410.8F10, MTHFR, PROS1, F2
42prostacyclin448.4FGA, PROS1, APOH, F5, SERPINC1
43ascorbic acid44 249.3SERPINC1, JAK2, F5, MTHFR, F10
44phospholipid448.1F2, PROS1, F10, F5, JAK2, APOH
45aspirin44 49 28 2410.8F2, FGA, F10, MTHFR, F5, JAK2
46creatinine447.8F5, MTHFR, PROS1, FGA, F2, SERPINC1
47serine447.6JAK2, F10, FGA, PROS1, SERPIND1, PLG
48vegf447.5PROS1, PLG, SERPINC1, F10, JAK2, APOH
49heparin44 28 11 2410.5APOH, MTHFR, F10, PROS1, FGA, PLG
50fibrinogen447.3MTHFR, F5, APOH, F10, FGA, F2

GO Terms for genes affiliated with Antithrombin Iii Deficiency

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:0057969.0F2, PROS1, F10
2platelet alpha granule lumenGO:0310938.1PLG, FGA, PROS1, F5
3extracellular spaceGO:0056157.5APOH, F5, FGA, F2, PLG, SERPIND1
4extracellular regionGO:0055766.5F5, F10, PROS1, FGA, F2, PLG

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of blood coagulationGO:0301949.7F2, APOH
2blood coagulation, intrinsic pathwayGO:0075979.6F2, F10, APOH
3negative regulation of fibrinolysisGO:0519189.4APOH, F2, PLG
4peptidyl-glutamic acid carboxylationGO:0171879.2F2, PROS1, F10
5post-translational protein modificationGO:0436879.0F2, PROS1, F10
6negative regulation of endopeptidase activityGO:0109518.9PROS1, SERPIND1, SERPINC1
7fibrinolysisGO:0427308.8PLG, F2, PROS1
8platelet degranulationGO:0025768.3F5, PROS1, FGA, PLG
9cellular protein metabolic processGO:0442678.1F10, PROS1, F2, PLG
10platelet activationGO:0301688.0F5, PROS1, FGA, F2, PLG
11blood coagulationGO:0075966.5SERPINC1, JAK2, F5, F10, PROS1, FGA

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.2PLG, F2, F10
2heparin bindingGO:0082019.1SERPINC1, SERPIND1, APOH

Products for genes affiliated with Antithrombin Iii Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Antithrombin Iii Deficiency

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet