MCID: PRT014
MIFTS: 55

Protein S Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Protein S Deficiency

About this section

Aliases & Descriptions for Protein S Deficiency:

Name: Protein S Deficiency 8 64 42 21 10 44 61
Protein S Deficiency Disease 8 20 22
 
Hereditary Thrombophilia Due to Protein S Deficiency 21


Classifications:



External Ids:

Disease Ontology8 DOID:2451
SNOMED-CT56 1563006
MeSH33 D018455

Summaries for Protein S Deficiency

About this section
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:64 Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a... more...

Related Diseases for Protein S Deficiency

About this section

Diseases related to Protein S Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 180)
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
8budd-chiari syndrome30.9SERPINE1, SERPINC1
9vasculitis30.9F2, APOH, PROS1, FGA
10lupus erythematosus30.8F2, APOH, SERPINC1, PROS1, F3, F5
11coronary thrombosis30.8SERPINE1, SERPINC1, F3
12sneddon syndrome30.8SERPINC1, APOH
13thrombophlebitis30.7APOH, F8
14systemic lupus erythematosus30.6F2, APOH, F3, F8, C4BPA, FGA
15portal vein thrombosis30.5F2, SERPINC1, PROS1, MTHFR, F8, F5
16connective tissue disease30.5F3, APOH, F2
17pulmonary embolism30.3PROS1, F3, MTHFR, F5, FGA, PF4
18hyperhomocysteinemia30.2F8, F5, F2, APOH, SERPINE1, SERPINC1
19protein c deficiency30.1F2, APOH, SERPINE1, SERPINC1, PROC, PROS1
20antiphospholipid syndrome30.0F2, APOH, SERPINC1, PF4, PROS1, F3
21acute myocardial infarction29.7PIK3C2A, SERPINE1, SERPINC1, PF4, F3, FGA
22thrombophilia29.5F2, APOH, SERPINE1, SERPINC1, PF4, PROC
23disseminated intravascular coagulation29.5F2, PIK3C2A, SERPINE1, SERPINC1, PF4, PROC
24thrombocytopenia29.3F2, PIK3C2A, APOH, SERPINC1, PF4, F3
25myocardial infarction29.2PIK3C2A, SHBG, SERPINE1, SERPINC1, PF4, F3
26cerebritis10.7
27hepatic vein thrombosis10.6PROS1
28retinitis10.6
29patent foramen ovale10.6F5
30afibrinogenemia, congenital10.6FGA
31thrombophilia due to protein s deficiency, autosomal dominant10.5
32meningococcemia10.5F5, SERPINC1
33eclampsia10.5MTHFR, SERPINC1
34post-thrombotic syndrome10.5F5, SERPINC1
35factor xiii deficiency10.5F3, F5
36mondor disease10.5F5, APOH
37legg-calve-perthes disease10.4SERPINC1, F5
38homocysteinemia10.4MTHFR, F5
39stroke, ischemic10.4F5, F2
40thrombophilia due to protein s deficiency, autosomal recessive10.4
41retinal vascular occlusion10.4APOH, F5
42carotid artery thrombosis10.4SERPINE1, F3
43nonarteritic anterior ischemic optic neuropathy10.4MTHFR, F5
44factor v and factor viii, combined deficiency of10.4F8, F5
45placental abruption10.4SERPINC1, MTHFR, F5
46vitamin k deficiency hemorrhagic disease10.4F2, F3
47calciphylaxis10.4
48nephrotic syndrome10.4
49intermittent claudication10.4PF4
50homocystinuria10.4SERPINC1, MTHFR, F5

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



Diseases related to protein s deficiency

Symptoms for Protein S Deficiency

About this section

Drugs & Therapeutics for Protein S Deficiency

About this section

Drug clinical trials:

Search ClinicalTrials for Protein S Deficiency

Search NIH Clinical Center for Protein S Deficiency

Genetic Tests for Protein S Deficiency

About this section

Genetic tests related to Protein S Deficiency:

id Genetic test Affiliating Genes
1 Protein S Deficiency20 22 PROS1

Anatomical Context for Protein S Deficiency

About this section

MalaCards organs/tissues related to Protein S Deficiency:

31
Skin, Liver, Testes, Heart, Bone, Brain, Small intestine, Thyroid, T cells, Endothelial

Animal Models for Protein S Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Protein S Deficiency:

35 (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

About this section

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

About this section

Expression for genes affiliated with Protein S Deficiency

About this section
Search GEO for disease gene expression data for Protein S Deficiency.

Pathways for genes affiliated with Protein S Deficiency

About this section

Pathways related to Protein S Deficiency according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway36
9.7SERPINE1, MTHFR, F2
2
Show member pathways
9.7PROC, PROS1, F2
3
Show member pathways
Immune response Alternative complement pathway59
Immune response Lectin Induced complement pathway59
Immune response Classic complement pathway59
9.6C4BPA, C4BPB, PROS1
4
Show member pathways
9.6C4BPB, PROS1, C4BPA
5
Show member pathways
9.1PROS1, F2, PF4, PROC
6
Show member pathways
8.5SERPINC1, F2, PROC, FGA, PROS1, F3
7
Show member pathways
7.8SERPINE1, PF4, CD9, F8, F5, FGA
8
Show member pathways
7.6F2, SERPINE1, FGA, F5, F8, F3
9
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
7.5F2, F3, PROC, FGA, C4BPB, C4BPA
10
Show member pathways
6.8SERPINC1, F3, F5, CD9, SERPINE1, PROS1

Compounds for genes affiliated with Protein S Deficiency

About this section

Compounds related to Protein S Deficiency according to GeneCards Suite gene sharing:

(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 60 28 1112.4F2, F8, F3, SERPINC1, SERPINE1, F5
17danaparoid449.4SERPINC1, F5, F2, PF4, F3
18fondaparinux449.4PF4, SERPINC1, F5, F2, F3
19levonorgestrel44 60 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 1 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

About this section

Cellular components related to Protein S Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.7F3, SERPINE1, APOH
2Golgi lumenGO:00057969.4PROS1, PROC, F2
3blood microparticleGO:00725629.3F2, SERPINC1, PROS1, C4BPA, FGA
4platelet alpha granule lumenGO:00310938.8FGA, F5, F8, PROS1, PF4, SERPINE1
5extracellular spaceGO:00056157.9F2, APOH, SERPINE1, SERPINC1, PF4, F3
6extracellular regionGO:00055766.8PF4, SERPINC1, SERPINE1, SHBG, F2, PROC
7plasma membraneGO:00058866.0PROC, SERPINC1, SERPINE1, PIK3C2A, F2, F3

Biological processes related to Protein S Deficiency according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fibrinolysisGO:005191810.0F2, APOH, SERPINE1
2positive regulation of blood coagulationGO:00301949.9F2, APOH, SERPINE1
3fibrinolysisGO:00427309.9PROS1, SERPINE1, F2
4peptidyl-glutamic acid carboxylationGO:00171879.9F2, PROC, PROS1
5blood coagulation, intrinsic pathwayGO:00075979.8APOH, F8, F2
6negative regulation of blood coagulationGO:00301959.8APOH, SERPINE1, PROC
7leukocyte migrationGO:00509009.7PROS1, PROC, F2
8regulation of complement activationGO:00304499.6C4BPA, PROS1, C4BPB
9negative regulation of endopeptidase activityGO:00109519.5SERPINC1, PROS1, SERPINE1
10proteolysisGO:00065089.3F2, PROS1, PROC, TPP2
11post-translational protein modificationGO:00436879.3F2, PROC, PROS1, MOGS
12platelet degranulationGO:00025768.1F5, CD9, F8, PROS1, PF4, SERPINE1
13platelet activationGO:00301687.8CD9, F2, F5, FGA, PF4, SERPINE1
14blood coagulationGO:00075966.5F5, CD9, F8, F3, PROS1, PROC

Molecular functions related to Protein S Deficiency according to GeneCards Suite gene sharing:

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

Sources for Protein S Deficiency

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet