MCID: PRT014
MIFTS: 66

Protein S Deficiency malady

Blood diseases category

Summaries for Protein S Deficiency

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: Protein S Deficiency, also known as protein s deficiency disease, is related to protein c deficiency and purpura. An important gene associated with Protein S Deficiency is PROS1 (protein S (alpha)), and among its related pathways are Metabolism and fatty acid activation. The drugs amino acids and amino acids, essential and the compounds cholesterol and lipid have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and liver, and related mouse phenotypes are homeostasis/metabolism 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:63 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, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 20GeneTests, 22GTR, 56SNOMED-CT, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

protein s deficiency 8 63 42 21 10 44 60
protein s deficiency disease 8 20 22
protein deficiency 44 60
hereditary thrombophilia due to protein s deficiency 21


External Ids:

Disease Ontology8 DOID:2451
SNOMED-CT56 1563006
MeSH34 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 241)
idRelated DiseaseScoreTop Affiliating Genes
1protein c deficiency31.1APOH, F5, PROS1, SERPINC1
2purpura30.8SERPINC1
3pulmonary embolism30.7APOH, F5, PROS1, SERPINC1
4antithrombin iii deficiency30.6APOH, F5, PROS1, SERPINC1
5d-bifunctional protein deficiency30.6HSD17B4, HADHB, SCP2, EHHADH, ACOX1
6sagittal sinus thrombosis30.6F5, PROS1, SERPINC1
7prothrombin deficiency30.6SERPINC1, F5, APOH
8thrombophilia30.5APOH, F5, PROS1, SERPINC1
9antiphospholipid syndrome30.5APOH, F5, PROS1, SERPINC1
10portal vein thrombosis30.5F5, PROS1, SERPINC1
11nephrotic syndrome30.5CETP, SERPINC1
12vasculitis30.4PROS1, APOH, MBL2
13myocardial infarction30.4CETP, SERPINC1, F5
14central retinal vein occlusion30.4APOH, F5
15stroke, ischemic30.4F5, PROS1
16retinal vein occlusion30.4SERPINC1, F5, APOH
17coronary thrombosis30.4SERPINC1
18trifunctional protein deficiency30.3HADHA, HADHB
19hyperhomocysteinemia30.3APOH, F5, PROS1, SERPINC1
20retinal artery occlusion30.3APOH
21adrenoleukodystrophy30.3HSD17B4, HADHB, SCP2, EHHADH, ACOX1
22intracranial thrombosis30.2APOH, F5, SERPINC1
23hypertension30.2PROS1, F5
24thrombocytopenia29.9APOH, PIGA, F5, SERPINC1
25acute myocardial infarction29.9HADHA, SERPINC1
26factor xii deficiency29.9APOH, F5, SERPINC1
27sneddon syndrome29.9APOH, SERPINC1
28thrombophlebitis29.9APOH
29tuberculosis29.9MBL2
30branch retinal artery occlusion29.9F5
31factor vii deficiency29.9F5, SERPINC1
32abetalipoproteinemia29.9HADHB, HADHA, TTPA, CETP
33zellweger syndrome29.7HSD17B4, HADHB, SCP2, EHHADH, ACOX1
34vascular disease29.7CETP, SERPINC1, F5, APOH
35malaria29.7SCARB2
36complement deficiency29.7MBL2
37cerebritis10.7
38factor v deficiency10.6
39retinitis10.5
40thrombophilia due to protein s deficiency, autosomal dominant10.5
41mitochondrial trifunctional protein deficiency10.4
42lupus erythematosus10.4
43wiskott-aldrich syndrome10.4
44systemic lupus erythematosus10.4
45calciphylaxis10.3
46disseminated intravascular coagulation10.3
47protein-deficiency anemia10.3
48mannose-binding lectin protein deficiency10.3
49thrombophilia due to protein s deficiency, autosomal recessive10.3
50arthritis10.2

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



Diseases related to protein s deficiency

Clinical Features for Protein S Deficiency

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Drugs & Therapeutics for Protein S Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Protein S Deficiency

Search NIH Clinical Center for Protein S Deficiency

Search CenterWatch for Protein S Deficiency

Inferred drug relations via UMLS60/NDF-RT40:

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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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32MalaCards
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MalaCards organs/tissues related to Protein S Deficiency:

32
Skin, Testes, Liver, Heart, Bone, T cells, Thyroid, Small intestine, Brain, Endothelial

Animal Models for Protein S Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Protein S Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537611.2SERPINC1, HSD17B4, PDHA1, MBL2, APOH, HADHB
2MP:000537011.0HSD17B4, HADHB, HADHA, SCP2, F5, PROS1
3MP:000537810.9HSD17B4, PDHA1, HADHB, HADHA, SCP2, SCARB2
4MP:001076810.9HADHB, APOH, PDHA1, HSD17B4, HADHA, SCARB2
5MP:000536910.9HSD17B4, PDHA1, HADHB, HADHA, PROS1, EHHADH
6MP:000538010.8HADHA, PIGA, F5, PROS1, TTPA, SERPINC1
7MP:000538510.6PDHA1, HADHB, HADHA, SCARB2, TTPA
8MP:000363110.5HSD17B4, PDHA1, SCARB2, PIGA, F5, PROS1

Publications for Protein S Deficiency

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50PubMed
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Articles related to Protein S Deficiency:

(show top 50)    (show all 521)
idTitleAuthorsYear
1
Heerlen polymorphism associated with type III protein S deficiency and factor V Leiden mutation in a Polish patient with deep vein thrombosis. (24365770)
2014
2
Right Atrial Thrombosis associated with Sagittal Sinus Thrombosis caused by Protein C-S Deficiency. (24362664)
2013
3
Acquired Pial and Dural Arteriovenous Fistulae following Superior Sagittal Sinus Thrombosis in Patients with Protein S Deficiency: A Report of Two Cases. (24162240)
2013
4
TFPI resistance related to inherited or acquired protein S deficiency. (23079294)
2012
5
Spontaneous Carotid Cavernous Fistula in a Case with Protein S Deficiency that Newly Developed Ophthalmoplegia after Embolization. (22087212)
2011
6
Chronic portal vein thrombosis due to combined deficiency of protein C and protein S. (22482325)
2011
7
Similar hypercoagulable state and thrombosis risk in type I and type III protein S-deficient individuals from families with mixed type I/III protein S deficiency. (20421270)
2010
8
Similar hypercoagulable state and thrombosis risk in type I and type III protein S-deficient individuals from mixed type I/III families. (20378562)
2010
9
Postvaricella purpura fulminans with no evidence of disseminated intravascular coagulation (DIC) or protein S deficiency. (21404754)
2010
10
Deep vein thrombosis in protein S deficiency. (21180223)
2010
11
Recurrent and consecutive non-arteritic optic neuropathy in a patient with protein S deficiency. (21135426)
2010
12
Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins. (19154341)
2009
13
Nonbacterial purpura fulminans and severe autoimmune acquired protein S deficiency associated with human herpesvirus-6 active replication. (19545295)
2009
14
Severe protein S deficiency resulting from two novel mutations in PROS1 presenting with a relatively mild clinical phenotype. (18485091)
2008
15
A case of hereditary protein S deficiency presenting with cerebral sinus venous thrombosis and deep vein thrombosis at high altitude. (18434709)
2008
16
Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. (18322254)
2008
17
Hereditary deficiency of protein C or protein S confers increased risk of arterial thromboembolic events at a young age: results from a large family cohort study. (18824642)
2008
18
Gene symbol: PROS1. Disease: Protein S deficiency. (18846666)
2008
19
Protein S deficiency and lower-extremity arterial thrombosis: complicating a common presentation. (17369323)
2007
20
Protein S deficiency associated with progressive loss of vision and intracranial venous sinus thrombosis. (15648287)
2004
21
Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency. (15238143)
2004
22
Pseudo-protein S deficiency due to activated protein C resistance. (15041281)
2003
23
The prevalence of protein C, protein S, and antithrombin III deficiency in non-APS/SLE Chinese adults with noncardiac cerebral ischemia. (12812386)
2003
24
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
25
A novel splice acceptor site mutation of protein S gene in affected individuals with type I protein S deficiency: allelic exclusion of the mutant gene. (11297755)
2001
26
Deficiency of natural anticoagulant proteins C, S, and antithrombin in portal vein thrombosis: a secondary phenomenon? (10716684)
2000
27
Hereditary deficiency of antithrombin III, protein C, protein S and factor XII in 121 patients with venous or arterial thrombosis]. (10377836)
1999
28
Hormonal state rather than age influences cut-off values of protein S: reevaluation of the thrombotic risk associated with protein S deficiency. (10494769)
1999
29
Cardiac transplantation in a patient with protein S deficiency. (10510018)
1999
30
Vitreoretinal findings similar to retinopathy of prematurity in infants with compound heterozygous protein S deficiency. (10442899)
1999
31
Severe preeclampsia associated with coinheritance of factor V Leiden mutation and protein S deficiency. (9572171)
1998
32
Protein S deficiency and factor V Leiden gene in pregnancy. (15512044)
1998
33
Calciphylaxis in a haemodialysis patient: functional protein S deficiency? (8918640)
1996
34
Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease. (7482396)
1995
35
Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. (7780138)
1995
36
Detection of protein C or protein S deficiency in patients on warfarin therapy--a study of nine patients. (7847765)
1994
37
Inherited protein S deficiency: clinical manifestations and laboratory findings in 63 patients. (7863477)
1994
38
Deep vein thrombosis in a 13-year-old boy with hereditary protein S deficiency and a review of the pediatric literature. (8178804)
1994
39
Successful delayed thrombolysis with tissue plasminogen activator for recurrent arterial thrombosis secondary to protein S deficiency. (8088407)
1994
40
Association of protein S deficiency with thrombosis in a kindred with increased levels of plasminogen activator inhibitor-1. (8379599)
1993
41
Free protein S deficiency in acute ischemic stroke. A case-control study. (8421823)
1993
42
Acquired protein S deficiency. (8215536)
1993
43
Acquired protein S deficiency. (8417170)
1993
44
BehAset syndrome associated with protein S deficiency. (1535461)
1992
45
Warfarin-induced skin necrosis in 2 patients with protein S deficiency: successful reinstatement of warfarin therapy. (1427456)
1992
46
Neonatal purpura fulminans associated with homozygous protein S deficiency. (1967377)
1990
47
Screening of protein S deficiency using a functional assay in patients with venous and arterial thrombosis. (2142342)
1990
48
Multiple arteriovenous malformations of the small intestine in a patient with protein S deficiency. (2528285)
1989
49
A new case of 'type II' inherited protein S deficiency. (2532929)
1989
50
Protein S deficiency in pregnancy. (2942036)
1986

Genetic Variations for Protein S Deficiency

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Expression for genes affiliated with Protein S Deficiency

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1BioGPS, 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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53Reactome, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN, 52R&D Systems
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Pathways related to Protein S Deficiency according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.8HSD17B4, PDHA1, HADHB, HADHA, SCP2, PIGA
2
Hide members
10.7ACOX1, EHHADH, SCP2, HADHA, HADHB, HSD17B4
3
Hide members
10.7HADHB, HADHA, SCP2, EHHADH, ACOX1
4
Hide members
10.6MBL2, F5, PROS1, SERPINC1
5
Hide members
10.6PDHA1, HADHB, HADHA, EHHADH
610.6HSD17B4, SCP2, EHHADH, ACOX1
7
Hide members
10.6HADHB, HADHA, ACOX1
8
Hide members
10.6SERPINC1, PROS1, F5
9
Hide members
10.6SERPINC1, PROS1, F5
10
Hide members
10.6EHHADH, HADHA, HADHB
11
Hide members
10.6ACOX1, SCP2, HSD17B4
12
Hide members
10.6ACOX1, SCP2, HSD17B4
1310.6ACOX1, EHHADH, SCP2
1410.6HADHB, HADHA
15
Hide members
10.6HADHA, HADHB

Compounds for genes affiliated with Protein S Deficiency

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Protein S Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 98)
idCompoundScoreTop Affiliating Genes
1cholesterol44 28 11 2414.3SCP2, F5, PROS1, EHHADH, TTPA, CETP
2lipid4411.2HADHB, MBL2, CETP, ACOX1, TTPA, SCARB2
3fatty acid4411.2ACOX1, HSD17B4, SCP2, EHHADH, HADHA, CETP
4creatinine4411.2HADHA, HADHB, APOH, MBL2, F5, PROS1
5acyl-coa4411.2SCP2, HADHA, HADHB, HSD17B4, ACOX1, EHHADH
6prostacyclin4411.2APOH, SERPINC1, PROS1, F5, HADHB, HADHA
7sterol4411.2HADHB, HSD17B4, CETP, ACOX1, EHHADH, SCP2
8lactate4411.1ACOX1, F5, HADHA, HADHB, APOH, PDHA1
9(3S)-3-Hydroxyadipyl-CoA2411.1HADHB, HADHA, EHHADH, HSD17B4
10citrate4411.1PDHA1, HADHA, SERPINC1, F5, HADHB
11acetyl-coa44 2412.1PDHA1, HADHB, HADHA, SCP2, ACOX1
12phosphatidylserine44 28 1113.1CETP, F5, MBL2, APOH, SCP2
13aspirin44 49 28 2414.1SERPINC1, CETP, F5, APOH, HADHA
14phosphatidylcholine4411.1MBL2, APOH, SCP2, F5, CETP
15dextran sulfate4411.0APOH, F5, SERPINC1, CETP
16(S)-Hydroxyoctanoyl-CoA2411.0HADHA, EHHADH, HSD17B4
17(S)-Hydroxyhexanoyl-CoA2411.0HSD17B4, EHHADH, HADHA
18(S)-3-Hydroxydodecanoyl-CoA2411.0HSD17B4, EHHADH, HADHA
19(S)-Hydroxydecanoyl-CoA2411.0EHHADH, HSD17B4, HADHA
203-oxoacyl-coa4411.0HADHA, SCP2, EHHADH
21(S)-3-Hydroxytetradecanoyl-CoA2411.0EHHADH, HSD17B4, HADHA
222-methyl-3-hydroxybutyryl-coa44 2412.0EHHADH, HSD17B4, HADHA
23carnitine4411.0HADHB, HADHA, PDHA1, ACOX1
24(S)-3-Hydroxyhexadecanoyl-CoA2411.0EHHADH, HSD17B4, HADHA
25(2E)-Dodecenoyl-CoA2411.0HADHB, HADHA, EHHADH, ACOX1
26(2E)-Tetradecenoyl-CoA2411.0EHHADH, HADHA, ACOX1, HADHB
273-methylcrotonyl-coa44 2412.0EHHADH, HADHA, HADHB
28(2E)-Decenoyl-CoA2411.0EHHADH, HADHB, HADHA, ACOX1
29(2E)-Octenoyl-CoA2411.0HADHA, EHHADH, HADHB, ACOX1
30phospholipid4411.0F5, PROS1, APOH, SCP2, CETP
31(2E)-Hexadecenoyl-CoA2411.0HADHB, HADHA, EHHADH, ACOX1
32palmitate4411.0CETP, SCP2, HADHA, HADHB
33cysteine4411.0MBL2, CTSZ, F5, MPST, PDHA1, HADHB
34homocysteine44 2412.0F5, CETP, SERPINC1, APOH
353-ketopalmitoyl-coa4410.9HADHB, HADHA
36(4R,8R,12R)-Trimethyl-2E-tridecenoyl-CoA2410.9HADHA, EHHADH
37(3S)-3-Hydroxydodec-cis-6-enoyl-CoA2410.8EHHADH, HADHA
38(3S)-3-Hydroxylinoleoyl-CoA2410.8EHHADH, HADHA
39steroid4410.8MBL2, APOH, SCP2, F5, PROS1, EHHADH
40(3S)-3-Hydroxy-cis-8-tetradecenoyl-CoA2410.8HADHA, EHHADH
41cyclophosphamide44 49 1112.8APOH, MBL2, PIGA, F5
42(3S)-3-Hydroxy-cis,cis-palmito-7,10-dienoyl-CoA2410.8HADHA, EHHADH
43(3S)-Hydroxy-tetracosa-6,9,12,15,18,21-all-cis-hexaenoyl-CoA2410.8HADHA, EHHADH
44(2S,6R,10R)-Trimethyl-2E-hendecenoyl-CoA2410.8EHHADH, HADHA
45cardiolipin44 1111.7F5, APOH, MBL2
46i-bop44 2811.6HADHB, HADHA
47phosphatidylethanolamine44 1111.6APOH, SCP2, F5
48inogatran4410.6F5, SERPINC1
49(S)-3-hydroxypalmitoleoyl-CoA2410.5HSD17B4, EHHADH
50(S)-3-Hydroxyisobutyryl-CoA2410.3HADHA, EHHADH

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
1mitochondrionGO:00573910.9ACOX1, HSD17B4, PDHA1, HADHB, HADHA, SCP2
2extracellular spaceGO:00561510.7CETP, SERPINC1, F5, CTSZ, APOH, MBL2
3peroxisomeGO:00577710.6HSD17B4, SCP2, EHHADH, ACOX1
4mitochondrial fatty acid beta-oxidation multienzyme complexGO:01650710.5HADHA, HADHB
5peroxisomal matrixGO:00578210.3HSD17B4, SCP2, ACOX1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cellular lipid metabolic processGO:04425510.9HSD17B4, HADHB, HADHA, SCP2, ACOX1
2fatty acid beta-oxidationGO:00663510.9EHHADH, HADHA, HADHB, HSD17B4
3alpha-linolenic acid metabolic processGO:03610910.8HSD17B4, SCP2, ACOX1
4unsaturated fatty acid metabolic processGO:03355910.7HSD17B4, SCP2, ACOX1
5fatty acid beta-oxidation using acyl-CoA oxidaseGO:03354010.7HSD17B4, SCP2, ACOX1
6small molecule metabolic processGO:04428110.7HSD17B4, PDHA1, HADHB, HADHA, SCP2, ACOX1
7cardiolipin acyl-chain remodelingGO:03596510.6HADHB, HADHA
8phospholipid transportGO:01591410.6CETP, SCP2
9lipid homeostasisGO:05508810.6CETP, ACOX1
10very long-chain fatty acid metabolic processGO:00003810.3ACOX1, HSD17B4

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
13-hydroxyacyl-CoA dehydrogenase activityGO:00385710.8EHHADH, HADHA, HADHB, HSD17B4
2long-chain-enoyl-CoA hydratase activityGO:01650810.7HSD17B4, HADHB, HADHA
3enoyl-CoA hydratase activityGO:00430010.7EHHADH, HADHA, HADHB
4fatty-acyl-CoA bindingGO:00006210.6HADHB, HADHA, SCP2
5receptor bindingGO:00510210.6HSD17B4, MBL2, SCP2, EHHADH, ACOX1
6sterol bindingGO:03293410.6SCP2D1, HSD17B4
7long-chain-3-hydroxyacyl-CoA dehydrogenase activityGO:01650910.3HADHA, HADHB

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet