MCID: PRT014
MIFTS: 67

Protein S Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Protein S Deficiency

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Protein s deficiency is a disorder that causes abnormal blood clotting. when someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding.  other proteins in the blood, such as protein s, usually regulate these chemical reactions to prevent excessive clotting. when protein s is missing (deficient), clotting may not be regulated normally and affected individuals have an increased risk of forming a blood clot called a thrombosis.  people at risk to have protein s deficiency are those with an individual or family history of multiple blood clots in the veins.  treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot. last updated: 3/4/2013

MalaCards: Protein S Deficiency, also known as protein s deficiency disease, is related to purpura and purpura fulminans. An important gene associated with Protein S Deficiency is PROS1 (protein S (alpha)), and among its related pathways are Selenium Pathway and PTM- gamma carboxylation, hypusine formation and arylsulfatase activation. The drugs amino acids and amino acids, essential and the compounds inogatran and hirugen have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and testes, and related mouse phenotypes are embryogenesis and liver/biliary system.

Wikipedia:66 Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a... more...

Aliases & Classifications for Protein S Deficiency

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9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 21GeneTests, 23GTR, 36MeSH, 59SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

protein s deficiency 9 66 44 22 11 46 63
protein s deficiency disease 9 21 23
protein deficiency 46 63
hereditary thrombophilia due to protein s deficiency 22


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Disease Ontology9 DOID:2451
SNOMED-CT59 1563006
MeSH36 D018455

Related Diseases for Protein S Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Protein S Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 266)
idRelated DiseaseScoreTop Affiliating Genes
1purpura31.1SERPINC1
2purpura fulminans31.0F5, PROC, SERPINC1
3venous thrombosis30.9SERPINE1, APOH, F2, SERPINC1, PF4, MTHFR
4sagittal sinus thrombosis30.8PROS1, F5, SERPINC1
5lupus erythematosus30.7APOH, SERPINC1, F2, F3, F5, PROS1
6pulmonary embolism30.6F2, FGA, F5, MTHFR, F3, PROS1
7systemic lupus erythematosus30.6F2, C4BPA, F8, F3, FGA, APOH
8central retinal vein occlusion30.6F5, MTHFR, APOH
9retinal artery occlusion30.6APOH
10retinal vein occlusion30.6SERPINC1, MTHFR, F5, APOH
11vasculitis30.5FGA, APOH, F2, PROS1
12thromboembolism30.4MTHFR, F3, PROC, PF4, SERPINC1, SERPINE1
13chickenpox30.4PROS1
14portal vein thrombosis30.4SERPINC1, F2, PROS1, MTHFR, F8, F5
15antiphospholipid syndrome30.3F2, APOH, F5, F8, MTHFR, F3
16thrombophilia30.3PROC, PROS1, F3, MTHFR, PF4, FGA
17protein c deficiency30.3SERPINE1, APOH, F2, F5, MTHFR, PROS1
18disseminated intravascular coagulation30.3FGA, F5, F8, F3, PROC, PF4
19hypertension30.3F5, PROS1, SERPINE1, F2, MTHFR
20branch retinal artery occlusion30.2F5
21sneddon syndrome30.2SERPINC1, APOH
22hyperhomocysteinemia30.2PROS1, SERPINC1, SERPINE1, APOH, F2, MTHFR
23thrombophlebitis30.2F8, APOH
24myocardial infarction30.1F3, MTHFR, F8, F5, FGA, SHBG
25coronary thrombosis30.1F3, SERPINE1, SERPINC1
26connective tissue disease30.1F3, F2, APOH
27hypercholesterolemia30.1F8, SERPINE1, FGA
28antithrombin iii deficiency30.0APOH, F2, SERPINC1, PROS1, MTHFR, F5
29acute myocardial infarction29.9SERPINE1, PF4, PIK3C2A, SERPINC1, F3, FGA
30bernard-soulier syndrome29.9FGA, F2, F8
31septic shock29.9FGA, C4BPA, F5, F3, PF4, SERPINC1
32thrombocytopenia29.8F2, PIK3C2A, APOH, SERPINC1, FGA, F5
33glanzmann's thrombasthenia29.7F3, CD9, PF4, F8
34cerebritis10.7
35trifunctional protein deficiency10.7
36mitochondrial trifunctional protein deficiency10.7
37d-bifunctional protein deficiency10.6
38retinitis10.5
39thrombophilia due to protein s deficiency, autosomal dominant10.5
40wiskott-aldrich syndrome10.4
41calciphylaxis10.4
42nephrotic syndrome10.4
43mannose-binding lectin protein deficiency10.3
44thrombophilia due to protein s deficiency, autosomal recessive10.3
45protein-deficiency anemia10.3
46arthritis10.2
47inflammatory bowel disease10.2
48ischemia10.2
49rheumatoid arthritis10.2
50venous thromboembolism10.2

Graphical network of the top 20 diseases related to Protein S Deficiency:



Diseases related to protein s deficiency

Symptoms for Protein S Deficiency

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Drugs & Therapeutics for Protein S 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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Search CenterWatch for Protein S Deficiency

Inferred drug relations via UMLS63/NDF-RT42:

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Genetic Tests for Protein S Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Protein S Deficiency:

id Genetic test Affiliating Genes
1 Protein S Deficiency21 23 PROS1

Anatomical Context for Protein S Deficiency

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34MalaCards
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MalaCards organs/tissues related to Protein S Deficiency:

34
Skin, Liver, Testes, Heart, Bone, Brain, Thyroid, T cells, Endothelial, Small intestine

Animal Models for Protein S Deficiency or affiliated genes

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38MGI
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Publications for Protein S Deficiency

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53PubMed
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Articles related to Protein S Deficiency:

(show top 50)    (show all 460)
idTitleAuthorsYear
1
Deep vein thrombosis and pulmonary embolism in a child with diabetic ketoacidosis and protein s deficiency: a case report. (23306559)
2013
2
Acquired Pial and Dural Arteriovenous Fistulae following Superior Sagittal Sinus Thrombosis in Patients with Protein S Deficiency: A Report of Two Cases. (24162240)
2013
3
Thyroid storm presenting as congestive heart failure and protein-S deficiency-induced biventricular and internal jugular venous thrombii. (24029205)
2013
4
Isolated protein S deficiency presenting as catastrophic systemic arterial and subsequently venous thrombosis. (23024716)
2012
5
Avascular necrosis of hip following combined protein C and protein S deficiency. (22253170)
2011
6
Deep vein thrombosis associated with protein C and protein S deficiency: an unusual cause of acute abdomen. (21547930)
2011
7
Protein S deficiency: Recurrent ischemic stroke in young. (20174500)
2009
8
Severe protein S deficiency resulting from two novel mutations in PROS1 presenting with a relatively mild clinical phenotype. (18485091)
2008
9
Protein S deficiency and retinal arteriolar occlusion in pregnancy. (18050134)
2007
10
Molecular bases of type II protein S deficiency: the I203-D204 deletion in the EGF4 domain alters GLA domain function. (16409468)
2006
11
Protein S deficiency associated with progressive loss of vision and intracranial venous sinus thrombosis. (15648287)
2004
12
Acquired protein S deficiency in thrombotic thrombocytopenic purpura patients receiving solvent/detergent plasma exchange. (12877681)
2003
13
Combined protein C and protein S deficiency in a family with repetitive thromboembolism and segregated gene mutations. (12705793)
2003
14
Deep venous thrombosis associated with factor V Leiden, G20210A mutation, and protein S deficiency. (12714139)
2003
15
Deep venous thrombosis associated with pulmonary tuberculosis and transient protein S deficiency. (12069029)
2002
16
Genetic and phenotypic variability between families with hereditary protein S deficiency. (11858485)
2002
17
Internal jugular vein thrombosis following in-vitro fertilization in a woman with protein S deficiency and heterozygosity for the prothrombin 3' UTR mutation, despite anticoagulation with heparin. (11555702)
2001
18
Sagittal sinus thrombosis associated with transient free protein S deficiency after L-asparaginase treatment: case report and review of the literature. (10717401)
2000
19
Protein S deficiency: a database of mutations--summary of the first update. (11127877)
2000
20
Spontaneous superior mesenteric vein thrombosis (SMVT) in primary protein S deficiency. A case report and review of the literature. (10832545)
2000
21
Inherited protein C deficiency, protein S deficiency and hyperhomocysteinaemia in a patient with hereditary spherocytosis. (10448604)
1999
22
A novel splice acceptor site mutation which produces multiple splicing abnormalities resulting in protein S deficiency type I. (10456456)
1999
23
Protein S deficiency presenting as an acute postoperative arterial thrombosis in a four-year-old child. (10072001)
1999
24
Dural sinus thrombosis in a patient with protein S deficiency--case report. (10658454)
1999
25
Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency. (10063989)
1999
26
Three novel missense mutations in unrelated Japanese patients with type I and type II protein S deficiency and venous thrombosis. (9651142)
1998
27
Recurrent warfarin-induced skin necrosis in kindreds with protein S deficiency. (9885367)
1998
28
The A20210 allele of the prothrombin gene is frequently associated with the factor V Arg 506 to Gln mutation but not with protein S deficiency in thrombophilic families. (9490712)
1998
29
Severe preeclampsia associated with coinheritance of factor V Leiden mutation and protein S deficiency. (9572171)
1998
30
Cerebral venous thrombosis in pregnancy: the role of protein S deficiency. (9606438)
1998
31
Coronary thrombosis associated with inherited protein S deficiency: a case report. (9013223)
1997
32
Protein S deficiency: a database of mutations. (9241758)
1997
33
Familial thrombophilia: clinical and molecular analysis of Swedish families with inherited resistance to activated protein C or protein S deficiency. (8981666)
1996
34
A novel nonsense mutation associated with an exon skipping in a patient with hereditary protein S deficiency type I. (8822579)
1996
35
Transient protein S deficiency associated with cerebral venous thrombosis in active ulcerative colitis. (7847309)
1995
36
Molecular biological analysis of hereditary thrombophilia--genetic characterization of protein S deficiency]. (7783333)
1995
37
Acquired protein S deficiency in a patient with systemic lupus erythematosus causing central retinal vein thrombosis. (7615865)
1995
38
Identification of eight point mutations in protein S deficiency type I -- analysis of 15 pedigrees. (7482398)
1995
39
Portal vein thrombosis caused by protein C and protein S deficiency associated with cytomegalovirus infection. (7699538)
1995
40
Cerebral ischemia in a patient with protein S deficiency and carotid stenosis. (8056555)
1994
41
Detection of protein C or protein S deficiency in patients on warfarin therapy--a study of nine patients. (7847765)
1994
42
Cutaneous necrosis resulting from protein S deficiency and increased antiphospholipid antibody in a patient with systemic lupus erythematosus. (8408826)
1993
43
Arterial thrombosis and protein S deficiency. (1447661)
1992
44
Purpura fulminans due to protein S deficiency following chickenpox. (1386247)
1992
45
Cerebral sinus thrombosis in a patient with hereditary protein S deficiency: case report and review of the literature. (1554792)
1992
46
Familial protein S deficiency presenting as deep vein thrombosis occurring during pregnancy. (2149488)
1990
47
A mutation in the protein S pseudogene is linked to protein S deficiency in a thrombophilic family. (2531940)
1989
48
Mesenteric vein thrombosis as presenting manifestation of hereditary protein S deficiency. (2946623)
1987
49
Severe deep vein thrombosis in a 2-year-old child with protein S deficiency. (2965427)
1987
50
Familial protein S deficiency is associated with recurrent thrombosis. (6239877)
1984

Variations for Protein S Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Protein S Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1PROS1NM_000313.3(PROS1): c.773A> G (p.Asn258Ser)single nucleotide variantPathogenicrs121918473GRCh37Chr 3, 93617368: 93617368
2PROS1NM_000313.3(PROS1): c.586A> G (p.Lys196Glu)single nucleotide variantPathogenicrs121918474GRCh37Chr 3, 93624643: 93624643
3PROS1NM_000313.3(PROS1): c.2031A> T (p.Ter677Tyr)single nucleotide variantPathogenicrs267606981GRCh37Chr 3, 93593089: 93593089
4PROS1NM_000313.3(PROS1): c.835C> T (p.Gln279Ter)single nucleotide variantPathogenicrs121918475GRCh37Chr 3, 93617306: 93617306
5PROS1NM_000313.3(PROS1): c.1681C> G (p.Arg561Gly)single nucleotide variantPathogenicrs121918476GRCh37Chr 3, 93595999: 93595999
6PROS1NM_000313.3(PROS1): c.1063C> T (p.Arg355Cys)single nucleotide variantPathogenicrs387906674GRCh37Chr 3, 93611869: 93611869

Expression for genes affiliated with Protein S Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Protein S Deficiency

Search GEO for disease gene expression data for Protein S Deficiency.

Pathways for genes affiliated with Protein S Deficiency

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 52PharmGKB, 13EMD Millipore, 54QIAGEN, 61Thomson Reuters, 58SinoBiological, 55R&D Systems, 31KEGG
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Pathways related to Protein S Deficiency according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway39
9.7MTHFR, SERPINE1, F2
2
Show member pathways
9.7F2, PROC, PROS1
39.6F8, PROC, APOH
4
Show member pathways
Immune response Alternative complement pathway61
Immune response Lectin Induced complement pathway61
Immune response Classic complement pathway61
9.6PROS1, C4BPA, C4BPB
5
Show member pathways
9.6C4BPB, C4BPA, PROS1
6
Show member pathways
9.1PROS1, PROC, PF4, F2
7
Show member pathways
8.5F2, SERPINC1, PROC, PROS1, F3, F8
8
Show member pathways
7.8SERPINE1, PF4, PROS1, F8, F5, CD9
9
Show member pathways
7.6F5, F8, F3, PROS1, PROC, PF4
10
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
7.5FGA, F2, C4BPB, C4BPA, F5, F8
11
Show member pathways
6.8F2, SERPINE1, SERPINC1, PF4, PROC, PROS1

Compounds for genes affiliated with Protein S Deficiency

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46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 3BitterDB, 52PharmGKB, 25HMDB
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Compounds related to Protein S Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 179)
idCompoundScoreTop Affiliating Genes
1inogatran469.9F2, F3, SERPINC1, F5
2hirugen469.9SERPINC1, F2, F5, FGA
3ecarin469.9F2, SERPINC1, F3, F5
4spectrozyme469.8F5, SERPINC1, F2, F3
5bivalirudin46 1210.7FGA, F5, F3, SERPINC1, F2
6ancrod469.7SERPINC1, FGA, F5, SERPINE1, F2
7argatroban46 1210.7F2, SERPINC1, F3, F5, FGA
8kaolin469.7F2, APOH, F3, F8, F5
9batroxobin469.6F5, SERPINE1, FGA, F2
10ristocetin469.6F2, F8, SERPINC1, F3, F5
11heparinoids469.6SERPINC1, F2, F5, F3
12tranexamic acid46 1210.6F2, F8, F3, SERPINC1, SERPINE1
13ximelagatran46 1210.5F5, F3, SERPINC1, F2
14cardiolipin46 1210.4C4BPA, F8, F3, APOH, F5, F2
15polybrene469.4F3, PF4, SERPINC1, F2
16desmopressin46 62 30 1212.4F2, F8, F3, SERPINC1, SERPINE1, F5
17danaparoid469.4SERPINC1, F5, F2, PF4, F3
18fondaparinux469.4PF4, SERPINC1, F5, F2, F3
19levonorgestrel46 62 30 1212.3F2, SHBG, F5, SERPINC1, F3
20protamine sulfate469.3F3, F5, PF4, SERPINC1, F2
2111-dehydrothromboxane b2469.3SERPINE1, PF4, FGA, F2, APOH
22fibrinopeptide a469.3F2, SERPINC1, FGA, PF4
23ticlopidine46 1210.2PF4, SERPINC1, F3, FGA, APOH
24coumarin46 3 52 2512.1F3, SERPINC1, F2, F5, FGA
25ptca468.9APOH, F3, FGA, PIK3C2A, PF4
26kininogen468.9PF4, F3, F2, SERPINC1, APOH, F5
27protamine468.9F3, SERPINC1, SERPINE1, F2, F5, PF4
28aprotinin46 129.9F2, SERPINC1, PF4, F3, F5, FGA
29gamma-carboxyglutamic acid468.8F2, PF4, PROC, PROS1, F3, F5
30dextran sulfate468.5PF4, APOH, SERPINC1, CD9, F3, F5
31phospholipid468.5F2, PROS1, APOH, F3, F8, F5
32citrate468.5PIK3C2A, F5, F3, F8, F2, PF4
33homocysteine46 259.4PIK3C2A, APOH, SERPINE1, SERPINC1, F3, MTHFR
34uric acid46 259.3F5, MTHFR, SERPINE1, APOH, PIK3C2A, CD9
35polyethylene glycol468.1F8, F2, SERPINC1, CD9, PF4, F5
36hirudin468.1F5, F8, F3, FGA, PF4, F2
37epinephrine46 25 1210.0FGA, F2, PIK3C2A, SHBG, F8, PF4
38thromboxane a246 258.9F8, APOH, FGA, PF4, CD9, PIK3C2A
39prostacyclin467.9FGA, F5, F8, F3, PROS1, PF4
40lactate467.8F2, PIK3C2A, SHBG, APOH, PF4, F8
41pge1467.8F2, PIK3C2A, APOH, SERPINE1, PF4, F5
42polysaccharide467.6SHBG, F3, F8, F5, CD9, PF4
43warfarin46 52 25 1210.5PIK3C2A, APOH, FGA, F5, F8, MTHFR
44aspirin46 52 30 2510.3FGA, CD9, F5, F8, MTHFR, F3
45serine467.2F2, TPP2, C4BPB, SERPINC1, PROC, FGA
46creatinine466.9F5, PF4, FGA, F8, F2, PIK3C2A
47cholesterol46 30 25 129.6C4BPA, CD9, F5, F8, MTHFR, PROS1
48alanine466.5CD9, F2, PIK3C2A, SHBG, SERPINC1, PF4
49fibrinogen466.2F2, PIK3C2A, APOH, SERPINE1, SERPINC1, PF4
50heparin46 30 25 128.4APOH, SERPINE1, SERPINC1, PF4, PROC, PROS1

GO Terms for genes affiliated with Protein S Deficiency

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17Gene Ontology
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Cellular components related to Protein S Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.7APOH, F3, SERPINE1
2Golgi lumenGO:0057969.4PROS1, PROC, F2
3blood microparticleGO:0725629.3F2, FGA, PROS1, SERPINC1, C4BPA
4platelet alpha granule lumenGO:0310938.8PROS1, PF4, FGA, F5, F8, SERPINE1
5extracellular spaceGO:0056157.9PF4, F8, SERPINC1, F5, SERPINE1, F2
6extracellular regionGO:0055766.8FGA, F2, SHBG, SERPINE1, SERPINC1, C4BPB
7plasma membraneGO:0058866.0F5, F8, CELSR2, PROC, SERPINC1, SERPINE1

Biological processes related to Protein S Deficiency according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fibrinolysisGO:05191810.0SERPINE1, APOH, F2
2positive regulation of blood coagulationGO:0301949.9SERPINE1, APOH, F2
3fibrinolysisGO:0427309.9F2, SERPINE1, PROS1
4peptidyl-glutamic acid carboxylationGO:0171879.9F2, PROC, PROS1
5blood coagulation, intrinsic pathwayGO:0075979.8F2, APOH, F8
6negative regulation of blood coagulationGO:0301959.8APOH, SERPINE1, PROC
7leukocyte migrationGO:0509009.7PROS1, PROC, F2
8regulation of complement activationGO:0304499.6PROS1, C4BPA, C4BPB
9negative regulation of endopeptidase activityGO:0109519.5PROS1, SERPINC1, SERPINE1
10proteolysisGO:0065089.3PROS1, PROC, TPP2, F2
11post-translational protein modificationGO:0436879.3F2, PROC, PROS1, MOGS
12platelet degranulationGO:0025768.1SERPINE1, PF4, PROS1, F8, F5, CD9
13platelet activationGO:0301687.8F2, SERPINE1, PF4, PROS1, F8, F5
14blood coagulationGO:0075966.5FGA, F2, SERPINE1, SERPINC1, PF4, PROC

Molecular functions related to Protein S Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020209.6F3, SERPINE1, SERPINC1
2heparin bindingGO:0082019.4PF4, SERPINC1, APOH
3serine-type endopeptidase activityGO:0042528.9TPP2, F2, F5, F8, PROC
4protein bindingGO:0055156.8F2, APOH, SERPINE1, SERPINC1, PROC, F3

Products for genes affiliated with Protein S Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Protein S 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