MCID: PRT014
MIFTS: 63

Protein S Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Protein S Deficiency

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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 based summary: Protein S Deficiency, also known as protein s deficiency disease, is related to purpura and pulmonary embolism. 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 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:23 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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Protein S Deficiency, Aliases & Descriptions:

Name: Protein S Deficiency 10 65 43 23 12 45 62
Protein S Deficiency Disease 10 22 24 62
 
Hereditary Thrombophilia Due to Protein S Deficiency 23 62


Classifications:

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


External Ids:

Disease Ontology10 DOID:2451
SNOMED-CT57 1563006
MeSH35 D018455

Related Diseases for Protein S Deficiency

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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 179)
idRelated DiseaseScoreTop Affiliating Genes
1purpura31.0SERPINC1
2pulmonary embolism30.7F2, FGA, F5, MTHFR, F3, PROS1
3sagittal sinus thrombosis30.7PROS1, F5, SERPINC1
4lupus erythematosus30.7APOH, SERPINC1, F2, F3, F5, PROS1
5central retinal vein occlusion30.6F5, MTHFR, APOH
6systemic lupus erythematosus30.6F2, C4BPA, F8, F3, FGA, APOH
7retinal vein occlusion30.6SERPINC1, MTHFR, F5, APOH
8vasculitis30.5FGA, APOH, F2, PROS1
9thrombophilia30.5PROC, PROS1, F3, MTHFR, PF4, FGA
10retinal artery occlusion30.5APOH
11antiphospholipid syndrome30.5F2, APOH, F5, F8, MTHFR, F3
12disseminated intravascular coagulation30.4FGA, F5, F8, F3, PROC, PF4
13portal vein thrombosis30.4SERPINC1, F2, PROS1, MTHFR, F8, F5
14hyperhomocysteinemia30.4PROS1, SERPINC1, SERPINE1, APOH, F2, MTHFR
15protein c deficiency30.3SERPINE1, APOH, F2, F5, MTHFR, PROS1
16chickenpox30.3PROS1
17budd-chiari syndrome30.3SERPINE1, SERPINC1
18coronary thrombosis30.3F3, SERPINE1, SERPINC1
19myocardial infarction30.3F3, MTHFR, F8, F5, FGA, SHBG
20branch retinal artery occlusion30.1F5
21sneddon syndrome30.1SERPINC1, APOH
22thrombophlebitis30.1F8, APOH
23connective tissue disease30.1F3, F2, APOH
24acute myocardial infarction30.0SERPINE1, PF4, PIK3C2A, SERPINC1, F3, FGA
25thrombocytopenia29.9F2, PIK3C2A, APOH, SERPINC1, FGA, F5
26cerebritis10.7
27retinitis10.6
28thrombophilia due to protein s deficiency, autosomal dominant10.5
29thrombophilia due to protein s deficiency, autosomal recessive10.4
30calciphylaxis10.4
31nephrotic syndrome10.4
32rheumatoid arthritis10.3
33arteriovenous fistula10.3
34arthritis10.3
35inflammatory bowel disease10.3
36osteonecrosis10.2
37ulcerative colitis10.2
38testicular infarct10.2
39priapism10.2
40central retinal artery occlusion10.2
41colitis10.2
42endocarditis10.2
43ischemia10.2
44peritonitis10.2
45headache10.2
46hereditary thrombophilia due to congenital protein s deficiency10.2
47hepatic vein thrombosis10.1PROS1
48patent foramen ovale10.1F5
49afibrinogenemia, congenital10.1FGA
50meningococcemia10.1SERPINC1, F5

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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Drug clinical trials:

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Search NIH Clinical Center for Protein S Deficiency

Genetic Tests for Protein S Deficiency

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Genetic tests related to Protein S Deficiency:

id Genetic test Affiliating Genes
1 Protein S Deficiency22 24 PROS1

Anatomical Context for Protein S Deficiency

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MalaCards organs/tissues related to Protein S Deficiency:

33
Skin, Liver, Testes, Heart, Bone, Brain, Small intestine, Thyroid, T cells, Endothelial

Animal Models for Protein S Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Protein S Deficiency:

37 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.2F2, SERPINC1, PROS1, F5, FGA, F3
2MP:00053708.9SERPINC1, PROC, PROS1, F5, FGA, SERPINE1
3MP:00053858.6PROC, FGA, F5, F3, PROS1, SERPINC1
4MP:00107718.5FGA, F2, SERPINE1, PROS1, F3, MTHFR
5MP:00036318.2F2, MTHFR, CELSR2, F3, PROS1, PROC
6MP:00053897.8FGA, CD9, F8, F2, MTHFR, CELSR2
7MP:00053877.0SERPINC1, F3, F8, CD9, FGA, SERPINE1
8MP:00107687.0F5, F3, F8, PIK3C2A, APOH, TPP2
9MP:00053786.9TPP2, PROC, F2, CD9, F5, SERPINE1
10MP:00053766.8FGA, F5, F8, F3, PROS1, PIK3C2A
11MP:00053976.3FGA, PROC, PROS1, F3, F8, CD9

Publications for Protein S Deficiency

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Articles related to Protein S Deficiency:

(show top 50)    (show all 480)
idTitleAuthorsYear
1
Successful management of acute mesenteric ischaemia in a pregnant woman with protein s deficiency. (24652435)
2014
2
Role of protein S deficiency in children with venous thromboembolism. An observational international cohort study. (25272994)
2014
3
Central retinal vein occlusion as a presenting feature in a young patient with protein S deficiency. (25331213)
2014
4
Deep vein thrombosis and pulmonary embolism in a child with diabetic ketoacidosis and protein s deficiency: a case report. (23306559)
2013
5
Acquired Pial and Dural Arteriovenous Fistulae following Superior Sagittal Sinus Thrombosis in Patients with Protein S Deficiency: A Report of Two Cases. (24162240)
2013
6
Thyroid storm presenting as congestive heart failure and protein-S deficiency-induced biventricular and internal jugular venous thrombii. (24029205)
2013
7
Isolated protein S deficiency presenting as catastrophic systemic arterial and subsequently venous thrombosis. (23024716)
2012
8
Avascular necrosis of hip following combined protein C and protein S deficiency. (22253170)
2011
9
Acute renal vein thrombosis, oral contraceptives, and protein S deficiency: a successful catheter-directed thrombolysis. (19631501)
2009
10
Protein S deficiency: Recurrent ischemic stroke in young. (20174500)
2009
11
Severe protein S deficiency resulting from two novel mutations in PROS1 presenting with a relatively mild clinical phenotype. (18485091)
2008
12
Protein S deficiency and retinal arteriolar occlusion in pregnancy. (18050134)
2007
13
Molecular bases of type II protein S deficiency: the I203-D204 deletion in the EGF4 domain alters GLA domain function. (16409468)
2006
14
Protein S deficiency associated with progressive loss of vision and intracranial venous sinus thrombosis. (15648287)
2004
15
Acquired protein S deficiency in thrombotic thrombocytopenic purpura patients receiving solvent/detergent plasma exchange. (12877681)
2003
16
Combined protein C and protein S deficiency in a family with repetitive thromboembolism and segregated gene mutations. (12705793)
2003
17
Deep venous thrombosis associated with pulmonary tuberculosis and transient protein S deficiency. (12069029)
2002
18
Genetic and phenotypic variability between families with hereditary protein S deficiency. (11858485)
2002
19
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
20
Sagittal sinus thrombosis associated with transient free protein S deficiency after L-asparaginase treatment: case report and review of the literature. (10717401)
2000
21
Protein S deficiency: a database of mutations--summary of the first update. (11127877)
2000
22
Spontaneous superior mesenteric vein thrombosis (SMVT) in primary protein S deficiency. A case report and review of the literature. (10832545)
2000
23
Inherited protein C deficiency, protein S deficiency and hyperhomocysteinaemia in a patient with hereditary spherocytosis. (10448604)
1999
24
A novel splice acceptor site mutation which produces multiple splicing abnormalities resulting in protein S deficiency type I. (10456456)
1999
25
Protein S deficiency presenting as an acute postoperative arterial thrombosis in a four-year-old child. (10072001)
1999
26
Dural sinus thrombosis in a patient with protein S deficiency--case report. (10658454)
1999
27
Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency. (10063989)
1999
28
Three novel missense mutations in unrelated Japanese patients with type I and type II protein S deficiency and venous thrombosis. (9651142)
1998
29
Recurrent warfarin-induced skin necrosis in kindreds with protein S deficiency. (9885367)
1998
30
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
31
Severe preeclampsia associated with coinheritance of factor V Leiden mutation and protein S deficiency. (9572171)
1998
32
Coronary thrombosis associated with inherited protein S deficiency: a case report. (9013223)
1997
33
Protein S deficiency: a database of mutations. (9241758)
1997
34
Familial thrombophilia: clinical and molecular analysis of Swedish families with inherited resistance to activated protein C or protein S deficiency. (8981666)
1996
35
A novel nonsense mutation associated with an exon skipping in a patient with hereditary protein S deficiency type I. (8822579)
1996
36
Transient protein S deficiency associated with cerebral venous thrombosis in active ulcerative colitis. (7847309)
1995
37
Molecular biological analysis of hereditary thrombophilia--genetic characterization of protein S deficiency]. (7783333)
1995
38
Acquired protein S deficiency in a patient with systemic lupus erythematosus causing central retinal vein thrombosis. (7615865)
1995
39
Identification of eight point mutations in protein S deficiency type I -- analysis of 15 pedigrees. (7482398)
1995
40
Portal vein thrombosis caused by protein C and protein S deficiency associated with cytomegalovirus infection. (7699538)
1995
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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Expression for genes affiliated with Protein S Deficiency

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

Pathways for genes affiliated with Protein S Deficiency

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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
9.7SERPINE1, MTHFR, F2
2
Show member pathways
9.7PROC, PROS1, F2
39.6APOH, PROC, F8
4
Show member pathways
Immune response Alternative complement pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
9.6C4BPA, C4BPB, PROS1
5
Show member pathways
9.6C4BPB, PROS1, C4BPA
6
Show member pathways
9.1PROS1, F2, PF4, PROC
7
Show member pathways
8.5SERPINC1, F2, PROC, FGA, PROS1, F3
8
Show member pathways
7.8SERPINE1, PF4, CD9, F8, F5, FGA
9
Show member pathways
7.6F2, SERPINE1, FGA, F5, F8, F3
10
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
7.5F2, F3, PROC, FGA, C4BPB, C4BPA
11
Show member pathways
6.8SERPINC1, F3, F5, CD9, SERPINE1, PROS1

Compounds for genes affiliated with Protein S Deficiency

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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 1310.7FGA, F5, F3, SERPINC1, F2
6ancrod459.7SERPINC1, FGA, F5, SERPINE1, F2
7argatroban45 1310.7F2, 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 1310.6F2, F8, F3, SERPINC1, SERPINE1
13ximelagatran45 1310.5F5, F3, SERPINC1, F2
14cardiolipin45 1310.4C4BPA, F8, F3, APOH, F5, F2
15polybrene459.4F3, PF4, SERPINC1, F2
16desmopressin45 61 30 1312.4F2, F8, F3, SERPINC1, SERPINE1, F5
17danaparoid459.4SERPINC1, F5, F2, PF4, F3
18fondaparinux459.4PF4, SERPINC1, F5, F2, F3
19levonorgestrel45 61 30 1312.3F2, 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 1310.2PF4, SERPINC1, F3, FGA, APOH
24coumarin45 3 51 2612.1F3, 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 139.9F2, 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 269.4PIK3C2A, APOH, SERPINE1, SERPINC1, F3, MTHFR
34uric acid45 269.3F5, MTHFR, SERPINE1, APOH, PIK3C2A, CD9
35polyethylene glycol458.1F8, F2, SERPINC1, CD9, PF4, F5
36hirudin458.1F5, F8, F3, FGA, PF4, F2
37epinephrine45 26 1310.0FGA, F2, PIK3C2A, SHBG, F8, PF4
38thromboxane a245 268.9F8, 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 26 1310.5PIK3C2A, APOH, FGA, F5, F8, MTHFR
44aspirin45 51 30 2610.3FGA, CD9, F5, F8, MTHFR, F3
45serine457.2F2, TPP2, C4BPB, SERPINC1, PROC, FGA
46creatinine456.9F5, PF4, FGA, F8, F2, PIK3C2A
47cholesterol45 30 26 139.6C4BPA, CD9, F5, F8, MTHFR, PROS1
48alanine456.5CD9, F2, PIK3C2A, SHBG, SERPINC1, PF4
49fibrinogen456.2F2, PIK3C2A, APOH, SERPINE1, SERPINC1, PF4
50heparin45 30 26 138.4APOH, SERPINE1, SERPINC1, PF4, PROC, PROS1

GO Terms for genes affiliated with Protein S Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.7APOH, F3, SERPINE1
2Golgi lumenGO:00057969.4PROS1, PROC, F2
3blood microparticleGO:00725629.3F2, FGA, PROS1, SERPINC1, C4BPA
4platelet alpha granule lumenGO:00310938.8PROS1, PF4, FGA, F5, F8, SERPINE1
5extracellular spaceGO:00056157.9PF4, F8, SERPINC1, F5, SERPINE1, F2
6extracellular regionGO:00055766.8FGA, F2, SHBG, SERPINE1, SERPINC1, C4BPB
7plasma membraneGO:00058866.0F5, 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:005191810.0SERPINE1, APOH, F2
2positive regulation of blood coagulationGO:00301949.9SERPINE1, APOH, F2
3fibrinolysisGO:00427309.9F2, SERPINE1, PROS1
4peptidyl-glutamic acid carboxylationGO:00171879.9F2, PROC, PROS1
5blood coagulation, intrinsic pathwayGO:00075979.8F2, APOH, F8
6negative regulation of blood coagulationGO:00301959.8APOH, SERPINE1, PROC
7leukocyte migrationGO:00509009.7PROS1, PROC, F2
8regulation of complement activationGO:00304499.6PROS1, C4BPA, C4BPB
9negative regulation of endopeptidase activityGO:00109519.5PROS1, SERPINC1, SERPINE1
10proteolysisGO:00065089.3PROS1, PROC, TPP2, F2
11post-translational protein modificationGO:00436879.3F2, PROC, PROS1, MOGS
12platelet degranulationGO:00025768.1SERPINE1, PF4, PROS1, F8, F5, CD9
13platelet activationGO:00301687.8F2, SERPINE1, PF4, PROS1, F8, F5
14blood coagulationGO:00075966.5FGA, F2, SERPINE1, SERPINC1, PF4, PROC

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.6SERPINE1, SERPINC1, F3
2heparin bindingGO:00082019.4PF4, SERPINC1, APOH
3serine-type endopeptidase activityGO:00042528.9F5, F8, PROC, TPP2, F2
4protein bindingGO:00055156.8F2, APOH, SERPINE1, SERPINC1, PROC, F3

Products for genes affiliated with Protein S Deficiency

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Sources for Protein S Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet