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, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 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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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Protein S Deficiency

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
Deep vein thrombosis and pulmonary embolism in a child with diabetic ketoacidosis and protein s deficiency: a case report. (23306559)
2013
2
Lateral sinus thrombosis and haemorrhagic ischemic stroke with protein S deficiency in a young. (24047030)
2012
3
Successful pregnancy outcome in a case of protein s deficiency. (24293862)
2012
4
Protein S deficiency in a living liver donor. (22175543)
2012
5
Avascular necrosis of hip following combined protein C and protein S deficiency. (22253170)
2011
6
A case of portal vein thrombosis by protein C and s deficiency completely recanalized by anticoagulation therapy. (22247922)
2011
7
The vascular adverse events of protein S deficiency: a case report. (21746800)
2011
8
Postinfectious purpura fulminans secondary to varicella-induced protein S deficiency. (20520582)
2010
9
Recurrent priapism in sickle cell trait with protein S deficiency. (19157328)
2008
10
Translocation of amyloid precursor protein C-terminal fragment(s) to the nucleus precedes neuronal death due to thiamine deficiency-induced mild impairment of oxidative metabolism. (18317926)
2008
11
TIPS can be lifesaving in acute liver failure associated with portal vein and inferior vena cava thrombosis in a case of Budd Chiari syndrome due to protein S deficiency. (18046604)
2008
12
Molecular basis of protein S deficiency. (17849042)
2007
13
An Sp1 binding site mutation of the PROS1 promoter in a patient with protein S deficiency. (17596203)
2007
14
Testicular infarction secondary to protein S deficiency: a case report. (16827935)
2006
15
Hemobilia in a patient with protein S deficiency after laparoscopic cholecystectomy that caused acute pancreatitis: successful endoscopic management. (15990843)
2005
16
Calciphylaxis: a rare association with alcoholic cirrhosis. Are deficiencies in protein C and S the cause? (16108246)
2005
17
The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population. (15147381)
2004
18
Deep venous thrombosis associated with pulmonary tuberculosis and transient protein S deficiency. (12069029)
2002
19
Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency: effects on secretion and anticoagulant activity of protein S. (11927129)
2002
20
Protein S deficiency: a database of mutations--summary of the first update. (11127877)
2000
21
Recurrent venous thrombosis in a patient with chronic lymphocytic leukemia and acquired protein S deficiency. (10841326)
2000
22
Mesenteric artery thrombosis: a case report of combined protein S and protein C deficiency. (9662280)
1998
23
Coexistence of acquired protein S and protein C deficiency and the Arg506Gln mutation in factor Va in a child with severe thromboembolic disease. (9560048)
1998
24
A family of protein S deficiency including two adults with homozygous deficiency. (9308771)
1997
25
Cerebral sinus thrombosis in a patient with protein S deficiency: a case report]. (9145407)
1997
26
Moyamoya disease and protein S deficiency: a case report. (9367301)
1997
27
Superior sagittal sinus thrombosis and acquired free protein S deficiency in the elderly. (8571436)
1996
28
The accurate definition of protein S deficiency may avoid the misestimation of the frequency of this defect. (8630429)
1996
29
A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA. (8584989)
1995
30
Protein S deficiency type I: identification of point mutations in 9 of 10 families. (7579449)
1995
31
Cerebral ischemia in a patient with protein S deficiency and carotid stenosis. (8056555)
1994
32
Different incidence of venous thrombosis in patients with inherited deficiencies of antithrombin III, protein C and protein S. (8165635)
1994
33
Anticardiolipin and acquired protein S deficiency in early childhood. (7946553)
1994
34
Protein S deficiency in men with long-term human immunodeficiency virus infection. (8461466)
1993
35
Protein S deficiency: imaging findings. (8249743)
1993
36
Protein S deficiency associated to anti-protein S antibodies in a patient with mixed connective-tissue disease and its reversal by danazol. (8213003)
1993
37
Protein C and protein S deficiency in thalassemic patients. (1298996)
1992
38
Hereditary deficiency of antithrombin III, protein C and protein S: prevalence in patients with a history of venous thrombosis and criteria for rational patient screening. (1450321)
1992
39
Hereditary protein C-deficiency: laboratory values in transmitters and guidelines for the diagnostic procedure. Report on a study of the SSC Subcommittee on Protein C and Protein S. Protein C Transmitter Study Group. (1448781)
1992
40
Septic shock, multiple organ failure, and disseminated intravascular coagulation. Compared patterns of antithrombin III, protein C, and protein S deficiencies. (1531791)
1992
41
Splenic rupture following splenic vein thrombosis in a man with protein S deficiency. (1494517)
1992
42
Stroke and familial protein S deficiency. (1532868)
1992
43
Warfarin induced dermatitis and venous thrombosis in a patient with Protein S deficiency. (1830603)
1991
44
Inferior vena cava thrombosis in a child with nephroblastoma and combined deficiency of antithrombin III and free protein S. (2176901)
1990
45
Superior sagittal sinus thrombosis in a patient with protein S deficiency. (2139256)
1990
46
Familial type I protein S deficiency associated with severe venous thrombosis--a study of five cases. (2973153)
1988
47
Mesenteric vein thrombosis as presenting manifestation of hereditary protein S deficiency. (2946623)
1987
48
Severe deep vein thrombosis in a 2-year-old child with protein S deficiency. (2965427)
1987
49
Ulcer necrotic legs as first manifestation of protein S deficiency. (2950942)
1987
50
Hereditary protein S deficiency and venous thrombo-embolism. A study in three Dutch families. (3161207)
1985

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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Sources:
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