MCID: PRT014
MIFTS: 47

Protein S Deficiency

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Protein S Deficiency

MalaCards integrated aliases for Protein S Deficiency:

Name: Protein S Deficiency 12 72 72 49 24 28 51 41 14 69
Hereditary Thrombophilia Due to Protein S Deficiency 24
Protein S Deficiency Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2451
ICD10 32 D68.59
MeSH 41 D018455
NCIt 46 C99026
SNOMED-CT 64 1563006
UMLS 69 C0242666

Summaries for Protein S Deficiency

NIH Rare Diseases : 49 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 hereditary thrombophilia due to protein s deficiency, is related to anterior spinal artery syndrome and sticky platelet syndrome. An important gene associated with Protein S Deficiency is PROS1 (Protein S), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Heparin and Thrombin have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and liver, and related phenotypes are homeostasis/metabolism and embryo

Genetics Home Reference : 24 Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.

Related Diseases for Protein S Deficiency

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

(show top 50) (show all 241)
# Related Disease Score Top Affiliating Genes
1 anterior spinal artery syndrome 29.7 F2 SERPINC1
2 sticky platelet syndrome 29.6 F5 SERPINC1
3 purpura fulminans 29.6 F2 F3 PROS1 SERPINC1
4 coronary thrombosis 29.5 F3 SERPINC1
5 acute liver failure 29.4 F2 F5
6 heparin-induced thrombocytopenia 29.4 F3 SERPINC1
7 osteonecrosis 29.4 F2 MTHFR SERPINC1
8 sagittal sinus thrombosis 29.2 F2 F3 F5 SERPINC1
9 disseminated intravascular coagulation 29.1 F2 F3 F5 SERPINC1
10 protein c deficiency 29.1 F2 F5 MTHFR SERPINC1
11 endocarditis 29.0 APOH F2 SERPINC1
12 infective endocarditis 29.0 APOH F2
13 sickle cell anemia 29.0 F2 MTHFR
14 purpura 28.7 APOH F2 F3 PROS1 SERPINC1
15 thrombotic thrombocytopenic purpura 28.6 APOH F3
16 myocardial infarction 28.5 F2 F3 F5 MTHFR SERPINC1
17 heart disease 28.4 F2 F3 MTHFR SERPINC1
18 sneddon syndrome 28.4 APOH F2 F5 SERPINC1
19 thrombosis 28.4 APOH F2 F3 F5 MTHFR PROS1
20 thrombophilia due to thrombin defect 28.3 APOH F2 F3 F5 MTHFR SERPINC1
21 central retinal vein occlusion 28.3 APOH F2 F5 MTHFR SERPINC1
22 retinal vein occlusion 28.3 APOH F2 F5 MTHFR SERPINC1
23 livedoid vasculopathy 28.2 APOH F2 F5 MTHFR
24 portal vein thrombosis 28.2 APOH F2 F5 MTHFR SERPINC1
25 retinal artery occlusion 28.2 APOH F2 F5 MTHFR SERPINC1
26 catastrophic antiphospholipid syndrome 28.0 APOH F3 F5 MTHFR
27 pulmonary embolism 27.9 APOH F2 F3 F5 MTHFR SERPINC1
28 thrombophlebitis 27.8 APOH F2 F5 MTHFR SERPINC1
29 antithrombin iii deficiency 27.8 APOH F2 F5 MTHFR SERPINC1
30 antiphospholipid syndrome 27.6 APOH F2 F3 F5 MTHFR SERPINC1
31 branch retinal artery occlusion 27.6 APOH F2 F3 MTHFR SERPINC1
32 thrombophilia 27.4 APOH F2 F3 F5 MTHFR PROS1
33 budd-chiari syndrome 27.3 APOH F2 F3 F5 MTHFR SERPINC1
34 stroke, ischemic 27.3 APOH F2 F3 F5 MTHFR SERPINC1
35 thrombophilia due to protein s deficiency, autosomal dominant 12.4
36 thrombophilia due to protein s deficiency, autosomal recessive 12.4
37 severe hereditary thrombophilia due to congenital protein s deficiency 12.1
38 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.5
39 vitamin k deficiency hemorrhagic disease 10.4 F2 PROS1
40 alpha-2-plasmin inhibitor deficiency 10.3 F2 SERPINC1
41 paracetamol poisoning 10.3 F2 F5
42 subendocardial myocardial infarction 10.3 F2 SERPINC1
43 esophageal varix 10.3 F2 SERPINC1
44 hemoglobin e disease 10.3 F2 F5
45 hypersplenism 10.3 F2 SERPINC1
46 factor viii deficiency 10.3 F2 F5
47 mesenteric vascular occlusion 10.3 F2 MTHFR
48 ischemic neuropathy 10.2 F2 MTHFR
49 meningococcemia 10.2 F5 SERPINC1
50 inferior vena cava interruption 10.2 F5 MTHFR

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



Diseases related to Protein S Deficiency

Symptoms & Phenotypes for Protein S Deficiency

MGI Mouse Phenotypes related to Protein S Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 F3 F5 MTHFR PROS1 SERPINC1 APOH
2 embryo MP:0005380 9.72 F3 F5 PROS1 SERPINC1 F2
3 integument MP:0010771 9.55 F3 F5 MTHFR PROS1 F2
4 mortality/aging MP:0010768 9.5 F3 F5 MTHFR PROS1 SERPINC1 APOH
5 nervous system MP:0003631 9.1 F2 F3 F5 MTHFR PROS1 SERPINC1

Drugs & Therapeutics for Protein S Deficiency

Drugs for Protein S Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
2
Thrombin Approved, Investigational
3 Coagulants
4 Hemostatics
5 Lipoprotein-associated coagulation inhibitor
6 protein S
7 Thromboplastin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevention of Unexplained Recurrent Abortion by Enoxaparine Terminated NCT00740545 Phase 3 enoxaparine 40 mg daily;placebo
2 Study of Thrombin Generation During the 3 First Cycles of Chemotherapy in Patients With Newly Diagnosed Multiple Myeloma Completed NCT01508416

Search NIH Clinical Center for Protein S Deficiency

Cochrane evidence based reviews: protein s deficiency

Genetic Tests for Protein S Deficiency

Genetic tests related to Protein S Deficiency:

# Genetic test Affiliating Genes
1 Protein S Deficiency 28 PROS1

Anatomical Context for Protein S Deficiency

MalaCards organs/tissues related to Protein S Deficiency:

38
Skin, Testes, Liver, Endothelial, Heart, Bone, T Cells

Publications for Protein S Deficiency

Articles related to Protein S Deficiency:

(show top 50) (show all 519)
# Title Authors Year
1
Extensive Necrotic Skin Lesions Due to Post-Varicella Protein S Deficiency. ( 29341982 )
2018
2
High prevalence of mental disorders in patients with inherited protein S deficiency: A case report series. ( 28189910 )
2017
3
Identification of reference miRNAs in plasma useful for the study of oestrogen-responsive miRNAs associated with acquired Protein S deficiency in pregnancy. ( 28743297 )
2017
4
Lupus protein-losing enteropathy patient with protein C and protein S deficiency-induced thrombosis: A case report with review of the literature. ( 28375198 )
2017
5
Rivaroxaban Causes Missed Diagnosis of Protein S Deficiency but Not of Activated Protein C Resistance (Factor V Leiden). ( 28920711 )
2017
6
Dangerous Headache: A Case of Dural Venous Sinus Thrombosis with Protein S Deficiency. ( 28274079 )
2017
7
Native aortic valve thrombosis in patient with protein S deficiency. ( 28419228 )
2017
8
Successful medical management of acute mesenteric ischemia due to superior mesenteric and portal vein thrombosis in a 27-year-old man with protein S deficiency: a case report. ( 29117862 )
2017
9
Venous thromboembolism associated with protein S deficiency due to Arg451* mutation in PROS1 gene: a case report and a literature review. ( 29321366 )
2017
10
Acquired protein S deficiency manifests as pulmonary embolism in early pregnancy: a case report. ( 27595759 )
2016
11
Protein S deficiency complicated pregnancy in women with recurrent pregnancy loss. ( 26941215 )
2016
12
Combined protein C and protein S deficiency presenting as multiple thrombotic events. ( 27728288 )
2016
13
Livedoid vasculopathy and popliteal artery occlusion in a patient with protein S deficiency. ( 27774697 )
2016
14
A novel PROS1 mutation, c.74dupA, was identified in a protein S deficiency family. ( 27846449 )
2016
15
Birthweight in pregnant women with protein S deficiency treated with low-molecular-weight heparin: a retrospective cohort study. ( 27677928 )
2016
16
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism. ( 27748013 )
2016
17
A rare presentation of pregnancy-acquired protein S deficiency : Pupura fulminans. ( 27727695 )
2016
18
Ertapenem-Induced Acute Interstitial Nephritis (AIN) in a Case of Protein S Deficiency and Factor V Leiden Mutation with Deep Vein Thrombosis. ( 27731567 )
2016
19
Antithrombotic prophylaxis in a patient with nephrotic syndrome and congenital protein S deficiency. ( 26928822 )
2016
20
Successful penile reconstruction following prior arteriovenous loop thrombosis due to undiagnosed protein-S deficiency and exogenous testosterone. ( 27833295 )
2016
21
Endothelial Nitric Oxide Synthase T-786C Mutation, Prothrombin Gene Mutation (G-20210-A) and Protein S Deficiency Could Lead to Myocardial Infarction in a Very Young Male Adult. ( 27275349 )
2016
22
Protein S testing in patients with protein S deficiency, factor V Leiden, and rivaroxaban by North American Specialized Coagulation Laboratories. ( 27075008 )
2016
23
Low-molecular-weight-heparin can benefit women with recurrent pregnancy loss and sole protein S deficiency: a historical control cohort study from Taiwan. ( 27799851 )
2016
24
Intraventricular Hemorrhage in a Term Neonate: Manifestation of Protein S Deficiency- A Case Report. ( 27252923 )
2016
25
Thrombin generation and other coagulation parameters in a patient with homozygous congenital protein S deficiency on treatment with rivaroxaban. ( 26586461 )
2016
26
Malignant isolated cortical vein thrombosis with type II protein S deficiency: a case report. ( 27193638 )
2016
27
Gene analysis of six cases of congenital protein S deficiency and functional analysis of protein S mutations (A139V, C449F, R451Q, C475F, A525V and D599TfsTer13). ( 28088608 )
2016
28
Protein S deficiency present in a pregnant woman with dyspnea, abdominal pains, restlessness, agitation and hypofibrinogenemia. ( 25914811 )
2015
29
Retiform Purpura Associated With Protein S Deficiency. ( 26708564 )
2015
30
Hereditary protein S deficiency leads to ischemic stroke. ( 25997409 )
2015
31
Recurrent Postoperative Spinal Epidural Hematoma in a Patient with Protein S Deficiency. ( 26236521 )
2015
32
PROS1 genotype phenotype relationships in a large cohort of adults with suspicion of inherited quantitative protein S deficiency. ( 26466767 )
2015
33
Late onset thrombosis in two Japanese patients with compound heterozygote protein S deficiency. ( 25868595 )
2015
34
A Case of Postinfectious Protein S Deficiency Masquerading as Henoch-SchAPnlein Purpura. ( 26063758 )
2015
35
Stent thrombosis caused by metal allergy complicated by protein S deficiency and heparin-induced thrombocytopenia: a case report and review of the literature. ( 26207097 )
2015
36
Role of protein S deficiency in children with venous thromboembolism. An observational international cohort study. ( 25272994 )
2014
37
Central retinal vein occlusion as a presenting feature in a young patient with protein S deficiency. ( 25331213 )
2014
38
Heerlen polymorphism associated with type III protein S deficiency and factor V Leiden mutation in a Polish patient with deep vein thrombosis. ( 24365770 )
2014
39
Acute ST Elevated Myocardial Injury due to Coronary Thrombosis during Thoracic Endovascular Aortic Repair in Patient with Protein S Deficiency. ( 25469146 )
2014
40
Asymptomatic type B right atrial thrombus in a case with protein S deficiency. ( 24994736 )
2014
41
Successful management of acute mesenteric ischaemia in a pregnant woman with protein s deficiency. ( 24652435 )
2014
42
Rapidly progressive cognitive impairment in a patient with high flow dural arteriovenous fistulas, cerebral sinus thrombosis and protein S deficiency. ( 24736194 )
2014
43
Coronary artery bypass grafting in a patient with protein S deficiency: perioperative implications. ( 24994735 )
2014
44
Protein S deficiency and novel oral anticoagulants: an intriguing case. ( 24642006 )
2014
45
A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency. ( 25255242 )
2014
46
The genomic architecture of the PROS1 gene underlying large tandem duplication mutation that causes thrombophilia from hereditary protein S deficiency. ( 24992033 )
2014
47
Skin necrosis complicated by warfarin-induced protein S deficiency. ( 25240306 )
2014
48
Coronary artery bypass grafting in 2 thrombophilic patients with protein s deficiency. ( 25611767 )
2014
49
Skin necrosis: a rare complication of protein S deficiency. ( 24600778 )
2014
50
Multiple abdominal veins thrombosis secondary to protein s deficiency - a case report. ( 25121018 )
2014

Variations for Protein S Deficiency

ClinVar genetic disease variations for Protein S Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PROS1 NM_000313.3(PROS1): c.835C> T (p.Gln279Ter) single nucleotide variant Pathogenic rs121918475 GRCh38 Chromosome 3, 93898462: 93898462
2 PROS1 NM_000313.3(PROS1): c.773A> G (p.Asn258Ser) single nucleotide variant Pathogenic rs121918473 GRCh37 Chromosome 3, 93617368: 93617368
3 PROS1 NM_000313.3(PROS1): c.586A> G (p.Lys196Glu) single nucleotide variant Pathogenic rs121918474 GRCh37 Chromosome 3, 93624643: 93624643
4 PROS1 PROS1, IVS10DS, G-A, +5 single nucleotide variant Pathogenic
5 PROS1 NM_000313.3(PROS1): c.2031A> T (p.Ter677Tyr) single nucleotide variant Pathogenic rs267606981 GRCh37 Chromosome 3, 93593089: 93593089
6 PROS1 PROS1, IVS11AS, A-G, -9 single nucleotide variant Pathogenic
7 PROS1 NM_000313.3(PROS1): c.1681C> G (p.Arg561Gly) single nucleotide variant Pathogenic rs121918476 GRCh37 Chromosome 3, 93595999: 93595999
8 PROS1 NM_000313.3(PROS1): c.1063C> T (p.Arg355Cys) single nucleotide variant Pathogenic rs387906674 GRCh37 Chromosome 3, 93611869: 93611869

Expression for Protein S Deficiency

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

GO Terms for Protein S Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 APOH C4BPA F2 F3 F5 PROS1
2 endoplasmic reticulum lumen GO:0005788 9.43 F2 F5 SERPINC1
3 blood microparticle GO:0072562 9.26 C4BPA F2 PROS1 SERPINC1
4 extracellular space GO:0005615 9.17 APOH C4BPA F2 F3 F5 PROS1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.71 F2 F5 SERPINC1
2 ER to Golgi vesicle-mediated transport GO:0006888 9.69 F2 F5 PROS1
3 platelet degranulation GO:0002576 9.58 APOH F5 PROS1
4 blood circulation GO:0008015 9.55 F5 MTHFR
5 fibrinolysis GO:0042730 9.52 F2 PROS1
6 regulation of complement activation GO:0030449 9.5 C4BPA F2 PROS1
7 signal peptide processing GO:0006465 9.49 F2 PROS1
8 blood coagulation, intrinsic pathway GO:0007597 9.48 APOH F2
9 negative regulation of blood coagulation GO:0030195 9.46 APOH PROS1
10 positive regulation of blood coagulation GO:0030194 9.43 APOH F2
11 peptidyl-glutamic acid carboxylation GO:0017187 9.37 F2 PROS1
12 blood coagulation GO:0007596 9.35 F2 F3 F5 PROS1 SERPINC1
13 regulation of blood coagulation GO:0030193 9.33 APOH F2 SERPINC1
14 negative regulation of fibrinolysis GO:0051918 9.26 APOH F2
15 hemostasis GO:0007599 9.02 F2 F3 F5 PROS1 SERPINC1

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.8 APOH F2 SERPINC1

Sources for Protein S Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....