MCID: ANT009
MIFTS: 43

Antithrombin Iii Deficiency malady

Blood category

Summaries for Antithrombin Iii Deficiency

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33MalaCards
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MalaCards: Antithrombin Iii Deficiency, also known as antithrombin iii, is related to venous thrombosis and sepsis. 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. Related mouse phenotypes are reproductive system and cardiovascular system.

Aliases & Classifications for Antithrombin Iii Deficiency

Sources:
8Disease Ontology, 9diseasecard, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH
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Classifications:

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


Aliases & Descriptions:

antithrombin iii deficiency 8 10 45 61
antithrombin iii 9 20 22


External Ids:

Disease Ontology8 DOID:3755
SNOMED-CT57 36351005
MeSH35 D020152

Related Diseases for Antithrombin Iii Deficiency

Sources:
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 173)
idRelated DiseaseScoreTop Affiliating Genes
1venous thrombosis31.1APOH, SERPINC1, F2, FGA, PROS1, F10
2sepsis31.1F5, F10, FGA, F2, PLG, SERPINC1
3thromboembolism30.8APOH, F5, MTHFR, F10, SERPINC1, SERPIND1
4factor v deficiency30.7F2, F5
5septic shock30.6F5, FGA, SERPINC1
6protein c deficiency30.6APOH, SERPINC1, F5, MTHFR, PROS1, F2
7portal vein thrombosis30.5SERPINC1, F2, PROS1, MTHFR, F5
8antiphospholipid syndrome30.5APOH, F5, MTHFR, F10, PROS1, F2
9prothrombin deficiency30.4APOH, F5, F2, SERPINC1
10acute leukemia30.4JAK2, MTHFR, FGA
11purpura fulminans30.4SERPINC1, F5
12hepatic vein thrombosis30.4PROS1
13acute myocardial infarction30.4SERPINC1, PLG, FGA, F10
14homocystinuria30.3F5, MTHFR, SERPINC1
15hellp syndrome30.3SERPINC1, MTHFR, F5, APOH
16atherosclerosis30.3APOH, MTHFR, FGA, PLG, SERPINC1
17thrombophlebitis30.2APOH
18coronary thrombosis30.2SERPINC1
19ovarian hyperstimulation syndrome30.2F5
20amyloidosis30.2F10
21factor viii deficiency30.2F5
22eclampsia30.2SERPINC1, MTHFR
23stroke, ischemic30.2F5, F2
24central retinal vein occlusion30.2MTHFR, F5, APOH
25protein s deficiency30.2SERPINC1, F5
26factor vii deficiency30.2F5, F10, F2, SERPINC1
27sagittal sinus thrombosis30.2F5, PROS1, SERPINC1
28systemic lupus erythematosus30.2F2, FGA, F10, APOH
29vasculitis30.2APOH, PROS1, FGA, F2
30thrombocytopenia30.2APOH, F5, F10, FGA, F2, PLG
31thrombophilia30.2SERPINC1, SERPIND1, PLG, F2, FGA, PROS1
32sneddon syndrome30.1SERPINC1, APOH
33meningococcemia30.0F5, SERPINC1
34coronary artery disease,30.0PLG, FGA, F10, MTHFR
35congenital antithrombin deficiency10.9
36hereditary antithrombin deficiency10.9
37n syndrome10.6
38congenital antithrombin deficiency type 310.5
39protein r deficiency10.3
40venous thromboembolism10.3
41angina pectoris10.2
42acute pancreatitis10.2
43retinal ischemia10.2
44cardiovascular disease risk factor10.2
45klippel-trenaunay syndrome10.2
46osteonecrosis10.2
47behcet's disease10.2
48toxic shock syndrome10.2
49angioedema10.2
50char syndrome10.2

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



Diseases related to antithrombin iii deficiency

Clinical Features for Antithrombin Iii Deficiency

Drugs & Therapeutics for Antithrombin Iii Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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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 UMLS61/NDF-RT41:

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Genetic Tests for Antithrombin Iii Deficiency

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

Animal Models for Antithrombin Iii Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Antithrombin Iii Deficiency

Genetic Variations for Antithrombin Iii Deficiency

Expression for genes affiliated with Antithrombin Iii Deficiency

Sources:
1BioGPS, 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

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 50PharmGKB, 52QIAGEN, 53R&D Systems, 30KEGG
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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
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9.1JAK2, FGA, F2
5
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9.0F2, PROS1, F10
69.0F2, PROS1, F10
7
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9.0FGA, F2, PLG
8
Development PDGF signaling via STATs and NF-kB
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9.0PLG, F2, JAK2
9
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8.7PLG, PROS1, F10
10
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8.5PROS1, F10, F5, JAK2
11
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8.1F5, PROS1, FGA, PLG
12
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7.8SERPINC1, F2, FGA, PROS1, F10, F5
13
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7.2F5, F10, PROS1, FGA, F2, PLG
14
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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

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 2BitterDB, 29IUPHAR
See all sources

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

(show top 50)    (show all 146)
idCompoundScoreTop Affiliating Genes
1cardiolipin45 1111.5F10
2estrogen4510.3APOH
3coumarins4510.2F10, APOH
4inogatran459.8SERPINC1, F2, F5
5organon459.8F2, F10, SERPINC1
6warfarin45 50 11 2412.8APOH, SERPINC1, FGA
7rivaroxaban45 1110.8SERPINC1, F2, F10
8fibrinopeptide a459.6SERPINC1, FGA, F2
9ecarin459.6F5, F2, SERPINC1, F10
10nafamostat mesilate459.6SERPINC1, FGA, F5
11spectrozyme459.6F2, SERPINC1, F5, F10
12danaparoid459.6F10, F2, SERPINC1, F5
13desogestrel45 1110.6SERPINC1, F2, F5
14ximelagatran45 1110.6F2, SERPINC1, F10, F5
15heparinoids459.6SERPINC1, F2, F5, F10
16fondaparinux459.6SERPINC1, F10, F2, F5
17kaolin459.6F10, F5, APOH, F2
18protamine sulfate459.5SERPINC1, F2, F10, F5
19batroxobin459.5F5, F2, FGA
20gestodene45 1110.5SERPINC1, F2, F5
21aprotinin45 1110.4SERPINC1, FGA, F5, F10
22ppack459.4SERPINC1, F2, FGA, F10
23hirugen459.4SERPINC1, F2, F5, FGA
2411-dehydrothromboxane b2459.4APOH, F2, FGA
25dextran sulfate459.3F10, F5, JAK2, APOH
26benzamidine45 1110.3F5, PLG, SERPINC1, F10
27tranexamic acid45 1110.1PLG, F2, SERPINC1
28Alpha-D-Mannose119.1SERPINC1, APOH, SERPIND1, FGA
29dermatan sulfate459.1F2, SERPINC1, SERPIND1, F10, F5
30ancrod459.1FGA, F10, F5, SERPINC1, F2
31bivalirudin45 1110.1F10, FGA, F2, F5, SERPINC1
32argatroban45 1110.1F2, FGA, F10, F5, SERPINC1
33homocysteine45 2410.1APOH, F5, SERPINC1, F2, MTHFR
34Drotrecogin alfa119.1F2, PROS1, F5
35coumarin45 2 50 2412.1F10, FGA, F5, F2, SERPINC1
36hirudin459.1SERPINC1, F2, FGA, F10, F5
37protamine459.0F5, F10, F2, SERPINC1, FGA
38gamma-carboxyglutamic acid459.0F2, PROS1, F10, F5
39pge1458.9APOH, F5, FGA, F2
40kininogen458.9APOH, SERPINC1, PLG, F2, F5
41menadione45 11 2410.8F10, MTHFR, PROS1, F2
42prostacyclin458.4FGA, PROS1, APOH, F5, SERPINC1
43ascorbic acid45 249.3SERPINC1, JAK2, F5, MTHFR, F10
44phospholipid458.1F2, PROS1, F10, F5, JAK2, APOH
45aspirin45 50 29 2410.8F2, FGA, F10, MTHFR, F5, JAK2
46creatinine457.8F5, MTHFR, PROS1, FGA, F2, SERPINC1
47serine457.6JAK2, F10, FGA, PROS1, SERPIND1, PLG
48vegf457.5PROS1, PLG, SERPINC1, F10, JAK2, APOH
49heparin45 29 11 2410.5APOH, MTHFR, F10, PROS1, FGA, PLG
50fibrinogen457.3MTHFR, F5, APOH, F10, FGA, F2

GO Terms for genes affiliated with Antithrombin Iii Deficiency

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Antithrombin Iii Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet