MCID: PRT014
MIFTS: 65

Protein S Deficiency malady

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

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NIH Rare Diseases:42 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 sagittal sinus thrombosis. 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: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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Protein S Deficiency, Aliases & Descriptions:

Name: Protein S Deficiency 8 65 42 21 10 44 62
Protein S Deficiency Disease 8 20 22 62
 
Hereditary Thrombophilia Due to Protein S Deficiency 21 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:2451
SNOMED-CT57 1563006
MeSH34 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 177)
idRelated DiseaseScoreTop Affiliating Genes
1purpura31.8SERPINC1
2sagittal sinus thrombosis31.3F5, PROS1, SERPINC1
3retinal artery occlusion31.3APOH
4central retinal vein occlusion31.1APOH, MTHFR, F5
5chickenpox31.0PROS1
6retinal vein occlusion31.0APOH, SERPINC1, MTHFR, F5
7branch retinal artery occlusion30.9F5
8vasculitis30.9F2, APOH, PROS1, FGA
9lupus erythematosus30.8F2, APOH, SERPINC1, PROS1, F3, F5
10sneddon syndrome30.8SERPINC1, APOH
11thrombophlebitis30.7APOH, F8
12systemic lupus erythematosus30.7F2, APOH, F3, F8, C4BPA, FGA
13coronary thrombosis30.6SERPINE1, SERPINC1, F3
14portal vein thrombosis30.5F2, SERPINC1, PROS1, MTHFR, F8, F5
15connective tissue disease30.5F3, APOH, F2
16hypertension30.5F5, MTHFR, PROS1, SERPINE1, F2
17pulmonary embolism30.3PROS1, F3, MTHFR, F5, FGA, PF4
18antithrombin iii deficiency30.2F2, APOH, SERPINC1, PROS1, MTHFR, F5
19hyperhomocysteinemia30.2F8, F5, F2, APOH, SERPINE1, SERPINC1
20protein c deficiency30.1F2, APOH, SERPINE1, SERPINC1, PROC, PROS1
21venous thrombosis30.1F5, FGA, F8, MTHFR, F2, APOH
22antiphospholipid syndrome30.0F2, APOH, SERPINC1, PF4, PROS1, F3
23thromboembolism29.7FGA, F2, APOH, SERPINE1, SERPINC1, PF4
24acute myocardial infarction29.7PIK3C2A, SERPINE1, SERPINC1, PF4, F3, FGA
25thrombophilia29.5F2, APOH, SERPINE1, SERPINC1, PF4, PROC
26disseminated intravascular coagulation29.5F2, PIK3C2A, SERPINE1, SERPINC1, PF4, PROC
27septic shock29.5FGA, C4BPA, F5, PIK3C2A, SERPINE1, SERPINC1
28thrombocytopenia29.3F2, PIK3C2A, APOH, SERPINC1, PF4, F3
29myocardial infarction29.2PIK3C2A, SHBG, SERPINE1, SERPINC1, PF4, F3
30cerebritis10.7
31retinitis10.6
32patent foramen ovale10.6F5
33afibrinogenemia10.6FGA
34meningococcemia10.5F5, SERPINC1
35thrombophilia due to protein s deficiency, autosomal dominant10.5
36eclampsia10.5MTHFR, SERPINC1
37post-thrombotic syndrome10.5F5, SERPINC1
38factor xii deficiency10.5F3, F5
39legg-calve-perthes disease10.5SERPINC1, F5
40mondor disease10.5F5, APOH
41homocysteinemia10.5MTHFR, F5
42stroke, ischemic10.4F5, F2
43retinal vascular occlusion10.4APOH, F5
44carotid artery thrombosis10.4SERPINE1, F3
45hepatic vein thrombosis10.4SERPINE1, SERPINC1
46combined factor v and viii deficiency10.4F8, F5
47placental abruption10.4SERPINC1, MTHFR, F5
48vitamin k deficiency hemorrhagic disease10.4F2, F3
49nephrotic syndrome10.4
50intermittent claudication10.4PF4

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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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 Deficiency20 22 PROS1

Anatomical Context for Protein S Deficiency

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MalaCards organs/tissues related to Protein S Deficiency:

32
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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Publications for Protein S Deficiency

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Articles related to Protein S Deficiency:

(show top 50)    (show all 472)
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
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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Expression for genes affiliated with Protein S Deficiency

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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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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 pathway37
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 Pathway37
Complement and Coagulation Cascades37
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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Compounds related to Protein S Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 179)
idCompoundScoreTop Affiliating Genes
1inogatran449.9F2, F3, SERPINC1, F5
2hirugen449.9SERPINC1, F2, F5, FGA
3ecarin449.9F2, SERPINC1, F3, F5
4spectrozyme449.8F5, SERPINC1, F2, F3
5bivalirudin44 1110.7FGA, F5, F3, SERPINC1, F2
6ancrod449.7SERPINC1, FGA, F5, SERPINE1, F2
7argatroban44 1110.7F2, SERPINC1, F3, F5, FGA
8kaolin449.7F2, APOH, F3, F8, F5
9batroxobin449.6F5, SERPINE1, FGA, F2
10ristocetin449.6F2, F8, SERPINC1, F3, F5
11heparinoids449.6SERPINC1, F2, F5, F3
12tranexamic acid44 1110.6F2, F8, F3, SERPINC1, SERPINE1
13ximelagatran44 1110.5F5, F3, SERPINC1, F2
14cardiolipin44 1110.4C4BPA, F8, F3, APOH, F5, F2
15polybrene449.4F3, PF4, SERPINC1, F2
16desmopressin44 61 28 1112.4F2, F8, F3, SERPINC1, SERPINE1, F5
17danaparoid449.4SERPINC1, F5, F2, PF4, F3
18fondaparinux449.4PF4, SERPINC1, F5, F2, F3
19levonorgestrel44 61 28 1112.3F2, SHBG, F5, SERPINC1, F3
20protamine sulfate449.3F3, F5, PF4, SERPINC1, F2
2111-dehydrothromboxane b2449.3SERPINE1, PF4, FGA, F2, APOH
22fibrinopeptide a449.3F2, SERPINC1, FGA, PF4
23ticlopidine44 1110.2PF4, SERPINC1, F3, FGA, APOH
24coumarin44 2 50 2412.1F3, SERPINC1, F2, F5, FGA
25ptca448.9APOH, F3, FGA, PIK3C2A, PF4
26kininogen448.9PF4, F3, F2, SERPINC1, APOH, F5
27protamine448.9F3, SERPINC1, SERPINE1, F2, F5, PF4
28aprotinin44 119.9F2, SERPINC1, PF4, F3, F5, FGA
29gamma-carboxyglutamic acid448.8F2, PF4, PROC, PROS1, F3, F5
30dextran sulfate448.5PF4, APOH, SERPINC1, CD9, F3, F5
31phospholipid448.5F2, PROS1, APOH, F3, F8, F5
32citrate448.5PIK3C2A, F5, F3, F8, F2, PF4
33homocysteine44 249.4PIK3C2A, APOH, SERPINE1, SERPINC1, F3, MTHFR
34uric acid44 249.3F5, MTHFR, SERPINE1, APOH, PIK3C2A, CD9
35polyethylene glycol448.1F8, F2, SERPINC1, CD9, PF4, F5
36hirudin448.1F5, F8, F3, FGA, PF4, F2
37epinephrine44 24 1110.0FGA, F2, PIK3C2A, SHBG, F8, PF4
38thromboxane a244 248.9F8, APOH, FGA, PF4, CD9, PIK3C2A
39prostacyclin447.9FGA, F5, F8, F3, PROS1, PF4
40lactate447.8F2, PIK3C2A, SHBG, APOH, PF4, F8
41pge1447.8F2, PIK3C2A, APOH, SERPINE1, PF4, F5
42polysaccharide447.6SHBG, F3, F8, F5, CD9, PF4
43warfarin44 50 24 1110.5PIK3C2A, APOH, FGA, F5, F8, MTHFR
44aspirin44 50 28 2410.3FGA, CD9, F5, F8, MTHFR, F3
45serine447.2F2, TPP2, C4BPB, SERPINC1, PROC, FGA
46creatinine446.9F5, PF4, FGA, F8, F2, PIK3C2A
47cholesterol44 28 24 119.6C4BPA, CD9, F5, F8, MTHFR, PROS1
48alanine446.5CD9, F2, PIK3C2A, SHBG, SERPINC1, PF4
49fibrinogen446.2F2, PIK3C2A, APOH, SERPINE1, SERPINC1, PF4
50heparin44 28 24 118.4APOH, 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:0310129.7F3, SERPINE1, APOH
2Golgi lumenGO:0057969.4PROS1, PROC, F2
3blood microparticleGO:0725629.3F2, SERPINC1, PROS1, C4BPA, FGA
4platelet alpha granule lumenGO:0310938.8FGA, F5, F8, PROS1, PF4, SERPINE1
5extracellular spaceGO:0056157.9F2, APOH, SERPINE1, SERPINC1, PF4, F3
6extracellular regionGO:0055766.8PF4, SERPINC1, SERPINE1, SHBG, F2, PROC
7plasma membraneGO:0058866.0PROC, SERPINC1, SERPINE1, PIK3C2A, F2, F3

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

Products for genes affiliated with Protein S Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Protein S Deficiency

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet