MCID: PRT014
MIFTS: 67

Protein S Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Protein S Deficiency

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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.

Genetics Home Reference:21 Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.

Wikipedia:65 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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8Disease Ontology, 65Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 62UMLS, 20GeneTests, 22GTR, 35MeSH, 58SNOMED-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 8 65 43 21 10 45 62
protein s deficiency disease 8 20 22
protein deficiency 45 62
hereditary thrombophilia due to protein s deficiency 21


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Disease Ontology8 DOID:2451
SNOMED-CT58 1563006
MeSH35 D018455

Related Diseases for Protein S Deficiency

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Protein S Deficiency

Search NIH Clinical Center for Protein S Deficiency

Inferred drug relations via UMLS62/NDF-RT41:

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Genetic Tests for Protein S Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Protein S Deficiency:

id Genetic test Affiliating Genes
1 Protein S Deficiency20 22 PROS1

Anatomical Context for Protein S Deficiency

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33MalaCards
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MalaCards organs/tissues related to Protein S Deficiency:

33
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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37MGI
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Publications for Protein S Deficiency

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52PubMed
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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, 15Gene 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:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 51PharmGKB, 12EMD Millipore, 53QIAGEN, 60Thomson Reuters, 57SinoBiological, 54R&D Systems, 30KEGG
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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 pathway38
9.7MTHFR, SERPINE1, F2
2
Show member pathways
9.7F2, PROC, PROS1
39.6F8, PROC, APOH
4
Show member pathways
Immune response Alternative complement pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
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 Pathway38
Complement and Coagulation Cascades38
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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Sources:
45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 3BitterDB, 51PharmGKB, 24HMDB
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Compounds related to Protein S Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 179)
idCompoundScoreTop Affiliating Genes
1inogatran459.9F2, F3, SERPINC1, F5
2hirugen459.9SERPINC1, F2, F5, FGA
3ecarin459.9F2, SERPINC1, F3, F5
4spectrozyme459.8F5, SERPINC1, F2, F3
5bivalirudin45 1110.7FGA, F5, F3, SERPINC1, F2
6ancrod459.7SERPINC1, FGA, F5, SERPINE1, F2
7argatroban45 1110.7F2, SERPINC1, F3, F5, FGA
8kaolin459.7F2, APOH, F3, F8, F5
9batroxobin459.6F5, SERPINE1, FGA, F2
10ristocetin459.6F2, F8, SERPINC1, F3, F5
11heparinoids459.6SERPINC1, F2, F5, F3
12tranexamic acid45 1110.6F2, F8, F3, SERPINC1, SERPINE1
13ximelagatran45 1110.5F5, F3, SERPINC1, F2
14cardiolipin45 1110.4C4BPA, F8, F3, APOH, F5, F2
15polybrene459.4F3, PF4, SERPINC1, F2
16desmopressin45 61 29 1112.4F2, F8, F3, SERPINC1, SERPINE1, F5
17danaparoid459.4SERPINC1, F5, F2, PF4, F3
18fondaparinux459.4PF4, SERPINC1, F5, F2, F3
19levonorgestrel45 61 29 1112.3F2, SHBG, F5, SERPINC1, F3
20protamine sulfate459.3F3, F5, PF4, SERPINC1, F2
2111-dehydrothromboxane b2459.3SERPINE1, PF4, FGA, F2, APOH
22fibrinopeptide a459.3F2, SERPINC1, FGA, PF4
23ticlopidine45 1110.2PF4, SERPINC1, F3, FGA, APOH
24coumarin45 3 51 2412.1F3, SERPINC1, F2, F5, FGA
25ptca458.9APOH, F3, FGA, PIK3C2A, PF4
26kininogen458.9PF4, F3, F2, SERPINC1, APOH, F5
27protamine458.9F3, SERPINC1, SERPINE1, F2, F5, PF4
28aprotinin45 119.9F2, SERPINC1, PF4, F3, F5, FGA
29gamma-carboxyglutamic acid458.8F2, PF4, PROC, PROS1, F3, F5
30dextran sulfate458.5PF4, APOH, SERPINC1, CD9, F3, F5
31phospholipid458.5F2, PROS1, APOH, F3, F8, F5
32citrate458.5PIK3C2A, F5, F3, F8, F2, PF4
33homocysteine45 249.4PIK3C2A, APOH, SERPINE1, SERPINC1, F3, MTHFR
34uric acid45 249.3F5, MTHFR, SERPINE1, APOH, PIK3C2A, CD9
35polyethylene glycol458.1F8, F2, SERPINC1, CD9, PF4, F5
36hirudin458.1F5, F8, F3, FGA, PF4, F2
37epinephrine45 24 1110.0FGA, F2, PIK3C2A, SHBG, F8, PF4
38thromboxane a245 248.9F8, APOH, FGA, PF4, CD9, PIK3C2A
39prostacyclin457.9FGA, F5, F8, F3, PROS1, PF4
40lactate457.8F2, PIK3C2A, SHBG, APOH, PF4, F8
41pge1457.8F2, PIK3C2A, APOH, SERPINE1, PF4, F5
42polysaccharide457.6SHBG, F3, F8, F5, CD9, PF4
43warfarin45 51 24 1110.5PIK3C2A, APOH, FGA, F5, F8, MTHFR
44aspirin45 51 29 2410.3FGA, CD9, F5, F8, MTHFR, F3
45serine457.2F2, TPP2, C4BPB, SERPINC1, PROC, FGA
46creatinine456.9F5, PF4, FGA, F8, F2, PIK3C2A
47cholesterol45 29 24 119.6C4BPA, CD9, F5, F8, MTHFR, PROS1
48alanine456.5CD9, F2, PIK3C2A, SHBG, SERPINC1, PF4
49fibrinogen456.2F2, PIK3C2A, APOH, SERPINE1, SERPINC1, PF4
50heparin45 29 24 118.4APOH, SERPINE1, SERPINC1, PF4, PROC, PROS1

GO Terms for genes affiliated with Protein S Deficiency

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16Gene 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
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