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 76 53 25 29 55 6 44 15 40 73
Hereditary Thrombophilia Due to Protein S Deficiency 25
Protein S Deficiency Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2451
ICD10 33 D68.59
MeSH 44 D018455
NCIt 50 C99026
SNOMED-CT 68 1563006
UMLS 73 C0242666

Summaries for Protein S Deficiency

NIH Rare Diseases : 53 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.

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 Enoxaparin 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 : 25 Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.

Wikipedia : 76 Protein S deficiency is a disorder associated with increased risk of venous thrombosis.Protein S, a... more...

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 240)
# Related Disease Score Top Affiliating Genes
1 anterior spinal artery syndrome 30.0 F2 SERPINC1
2 sticky platelet syndrome 29.9 F5 SERPINC1
3 acute liver failure 29.7 F2 F5
4 coronary thrombosis 29.7 F3 SERPINC1
5 heparin-induced thrombocytopenia 29.6 F3 SERPINC1
6 osteonecrosis 29.4 F2 MTHFR SERPINC1
7 purpura fulminans 29.3 F2 F3 PROS1 SERPINC1
8 sickle cell anemia 29.0 F2 MTHFR
9 infective endocarditis 29.0 APOH F2
10 afibrinogenemia 28.9 F2 F3 F5
11 sagittal sinus thrombosis 28.9 F2 F3 F5 SERPINC1
12 endocarditis 28.8 APOH F2 SERPINC1
13 protein c deficiency 28.8 F2 F5 MTHFR SERPINC1
14 disseminated intravascular coagulation 28.8 F2 F3 F5 SERPINC1
15 thrombotic thrombocytopenic purpura 28.4 APOH F3
16 heart disease 28.0 F2 F3 MTHFR SERPINC1
17 purpura 27.9 APOH F2 F3 PROS1 SERPINC1
18 sneddon syndrome 27.9 APOH F2 F5 SERPINC1
19 myocardial infarction 27.8 F2 F3 F5 MTHFR SERPINC1
20 livedoid vasculopathy 27.7 APOH F2 F5 MTHFR
21 central retinal vein occlusion 27.5 APOH F2 F5 MTHFR SERPINC1
22 retinal vein occlusion 27.5 APOH F2 F5 MTHFR SERPINC1
23 portal vein thrombosis 27.4 APOH F2 F5 MTHFR SERPINC1
24 retinal artery occlusion 27.3 APOH F2 F5 MTHFR SERPINC1
25 catastrophic antiphospholipid syndrome 27.2 APOH F3 F5 MTHFR
26 thrombophilia due to thrombin defect 27.1 APOH F2 F3 F5 MTHFR SERPINC1
27 thrombophlebitis 27.0 APOH F2 F5 MTHFR SERPINC1
28 antithrombin iii deficiency 27.0 APOH F2 F5 MTHFR SERPINC1
29 thrombosis 26.9 APOH F2 F3 F5 MTHFR PROS1
30 pulmonary embolism 26.7 APOH F2 F3 F5 MTHFR SERPINC1
31 branch retinal artery occlusion 26.7 APOH F2 F3 MTHFR SERPINC1
32 antiphospholipid syndrome 26.4 APOH F2 F3 F5 MTHFR SERPINC1
33 budd-chiari syndrome 26.1 APOH F2 F3 F5 MTHFR SERPINC1
34 stroke, ischemic 26.1 APOH F2 F3 F5 MTHFR SERPINC1
35 thrombophilia 26.1 APOH F2 F3 F5 MTHFR PROS1
36 thrombophilia due to protein s deficiency, autosomal dominant 12.4
37 thrombophilia due to protein s deficiency, autosomal recessive 12.4
38 severe hereditary thrombophilia due to congenital protein s deficiency 12.1
39 vitamin k deficiency hemorrhagic disease 10.6 F2 PROS1
40 alpha-2-plasmin inhibitor deficiency 10.5 F2 SERPINC1
41 paracetamol poisoning 10.5 F2 F5
42 subendocardial myocardial infarction 10.5 F2 SERPINC1
43 hemoglobin e disease 10.5 F2 F5
44 esophageal varix 10.5 F2 SERPINC1
45 hypersplenism 10.5 F2 SERPINC1
46 factor viii deficiency 10.4 F2 F5
47 mesenteric vascular occlusion 10.4 F2 MTHFR
48 ischemic neuropathy 10.4 F2 MTHFR
49 meningococcemia 10.4 F5 SERPINC1
50 scott syndrome 10.4 F2 F5

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 F2 F3 F5 MTHFR PROS1 SERPINC1
2 embryo MP:0005380 9.72 F2 F3 F5 PROS1 SERPINC1
3 integument MP:0010771 9.55 F2 F3 F5 MTHFR PROS1
4 mortality/aging MP:0010768 9.5 F2 F3 F5 MTHFR PROS1 SERPINC1
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
Enoxaparin Approved Phase 3 9005-49-6 772
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 29 PROS1

Anatomical Context for Protein S Deficiency

MalaCards organs/tissues related to Protein S Deficiency:

41
Skin, Testes, Liver, Endothelial, Heart, Bone, T Cells

Publications for Protein S Deficiency

Articles related to Protein S Deficiency:

(show top 50) (show all 528)
# Title Authors Year
1
Extensive Necrotic Skin Lesions Due to Post-Varicella Protein S Deficiency. ( 29341982 )
2018
2
Protein S deficiency in patients from the French Basque Country with various thrombotic conditions: a rarer inherited trait in autochthonous individuals? ( 29802506 )
2018
3
Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1: A case report. ( 29742732 )
2018
4
Preliminary Data From the Study of Coagulative Profile of HIV Infected Individuals Suggest a Role For Point Mutations in the Gene in Protein S Deficiency in Individuals Undergoing Highly Antiretroviral Therapy. ( 29576814 )
2018
5
Preventative management against thromboembolism using fresh frozen plasma in a coronary artery bypass graft patient with protein S deficiency: a case report. ( 29492451 )
2018
6
Rivaroxaban Treatment for Warfarin-Refractory Thrombosis in a Patient with Hereditary Protein S Deficiency. ( 29607227 )
2018
7
Dangerous Headache: A Case of Dural Venous Sinus Thrombosis with Protein S Deficiency. ( 28274079 )
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
Lupus protein-losing enteropathy patient with protein C and protein S deficiency-induced thrombosis: A case report with review of the literature. ( 28375198 )
2017
11
Native aortic valve thrombosis in patient with protein S deficiency. ( 28419228 )
2017
12
High prevalence of mental disorders in patients with inherited protein S deficiency: A case report series. ( 28189910 )
2017
13
Identification of reference miRNAs in plasma useful for the study of oestrogen-responsive miRNAs associated with acquired Protein S deficiency in pregnancy. ( 28743297 )
2017
14
Rivaroxaban Causes Missed Diagnosis of Protein S Deficiency but Not of Activated Protein C Resistance (Factor V Leiden). ( 28920711 )
2017
15
A rare presentation of pregnancy-acquired protein S deficiency : Pupura fulminans. ( 27727695 )
2016
16
Ertapenem-Induced Acute Interstitial Nephritis (AIN) in a Case of Protein S Deficiency and Factor V Leiden Mutation with Deep Vein Thrombosis. ( 27731567 )
2016
17
Thrombin generation and other coagulation parameters in a patient with homozygous congenital protein S deficiency on treatment with rivaroxaban. ( 26586461 )
2016
18
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
19
Protein S deficiency complicated pregnancy in women with recurrent pregnancy loss. ( 26941215 )
2016
20
Successful penile reconstruction following prior arteriovenous loop thrombosis due to undiagnosed protein-S deficiency and exogenous testosterone. ( 27833295 )
2016
21
Birthweight in pregnant women with protein S deficiency treated with low-molecular-weight heparin: a retrospective cohort study. ( 27677928 )
2016
22
A novel PROS1 mutation, c.74dupA, was identified in a protein S deficiency family. ( 27846449 )
2016
23
Protein S testing in patients with protein S deficiency, factor V Leiden, and rivaroxaban by North American Specialized Coagulation Laboratories. ( 27075008 )
2016
24
Antithrombotic prophylaxis in a patient with nephrotic syndrome and congenital protein S deficiency. ( 26928822 )
2016
25
Malignant isolated cortical vein thrombosis with type II protein S deficiency: a case report. ( 27193638 )
2016
26
Livedoid vasculopathy and popliteal artery occlusion in a patient with protein S deficiency. ( 27774697 )
2016
27
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
28
Acquired protein S deficiency manifests as pulmonary embolism in early pregnancy: a case report. ( 27595759 )
2016
29
Combined protein C and protein S deficiency presenting as multiple thrombotic events. ( 27728288 )
2016
30
Intraventricular Hemorrhage in a Term Neonate: Manifestation of Protein S Deficiency- A Case Report. ( 27252923 )
2016
31
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism. ( 27748013 )
2016
32
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
33
Retiform Purpura Associated With Protein S Deficiency. ( 26708564 )
2015
34
Hereditary protein S deficiency leads to ischemic stroke. ( 25997409 )
2015
35
Cerebral Venous Thrombosis, Protein S Deficiency and Pregnancy Triad:A Case Report. ( 28276047 )
2015
36
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
37
Late onset thrombosis in two Japanese patients with compound heterozygote protein S deficiency. ( 25868595 )
2015
38
A Case of Postinfectious Protein S Deficiency Masquerading as Henoch-SchAPnlein Purpura. ( 26063758 )
2015
39
Recurrent Postoperative Spinal Epidural Hematoma in a Patient with Protein S Deficiency. ( 26236521 )
2015
40
PROS1 genotype phenotype relationships in a large cohort of adults with suspicion of inherited quantitative protein S deficiency. ( 26466767 )
2015
41
Protein S deficiency present in a pregnant woman with dyspnea, abdominal pains, restlessness, agitation and hypofibrinogenemia. ( 25914811 )
2015
42
Staphylococcal endocarditis as the first manifestation of heritable protein S deficiency in childhood. ( 24462440 )
2014
43
PROS1 mutations associated with protein S deficiency in Polish patients with residual vein obstruction on rivaroxaban therapy. ( 24507871 )
2014
44
Coronary artery bypass grafting in 2 thrombophilic patients with protein s deficiency. ( 25611767 )
2014
45
Multiple abdominal veins thrombosis secondary to protein s deficiency - a case report. ( 25121018 )
2014
46
Skin necrosis complicated by warfarin-induced protein S deficiency. ( 25240306 )
2014
47
Coronary artery bypass grafting in a patient with protein S deficiency: perioperative implications. ( 24994735 )
2014
48
Cerebral venous thrombosis in young adult with familial protein S deficiency. ( 25304012 )
2014
49
Role of protein S deficiency in children with venous thromboembolism. An observational international cohort study. ( 25272994 )
2014
50
Successful management of acute mesenteric ischaemia in a pregnant woman with protein s deficiency. ( 24652435 )
2014

Variations for Protein S Deficiency

ClinVar genetic disease variations for Protein S Deficiency:

6
(show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 PROS1 NM_000313.3(PROS1): c.2031A> T (p.Ter677Tyr) single nucleotide variant Pathogenic rs267606981 GRCh38 Chromosome 3, 93874245: 93874245
2 PROS1 PROS1, IVS11AS, A-G, -9 single nucleotide variant Pathogenic
3 PROS1 NM_000313.3(PROS1): c.835C> T (p.Gln279Ter) single nucleotide variant Pathogenic rs121918475 GRCh37 Chromosome 3, 93617306: 93617306
4 PROS1 NM_000313.3(PROS1): c.835C> T (p.Gln279Ter) single nucleotide variant Pathogenic rs121918475 GRCh38 Chromosome 3, 93898462: 93898462
5 PROS1 NM_000313.3(PROS1): c.773A> G (p.Asn258Ser) single nucleotide variant Pathogenic rs121918473 GRCh37 Chromosome 3, 93617368: 93617368
6 PROS1 NM_000313.3(PROS1): c.773A> G (p.Asn258Ser) single nucleotide variant Pathogenic rs121918473 GRCh38 Chromosome 3, 93898524: 93898524
7 PROS1 NM_000313.3(PROS1): c.586A> G (p.Lys196Glu) single nucleotide variant Pathogenic rs121918474 GRCh37 Chromosome 3, 93624643: 93624643
8 PROS1 NM_000313.3(PROS1): c.586A> G (p.Lys196Glu) single nucleotide variant Pathogenic rs121918474 GRCh38 Chromosome 3, 93905799: 93905799
9 PROS1 PROS1, IVS10DS, G-A, +5 single nucleotide variant Pathogenic
10 PROS1 NM_000313.3(PROS1): c.2031A> T (p.Ter677Tyr) single nucleotide variant Pathogenic rs267606981 GRCh37 Chromosome 3, 93593089: 93593089
11 PROS1 NM_000313.3(PROS1): c.1681C> G (p.Arg561Gly) single nucleotide variant Pathogenic rs121918476 GRCh37 Chromosome 3, 93595999: 93595999
12 PROS1 NM_000313.3(PROS1): c.1681C> G (p.Arg561Gly) single nucleotide variant Pathogenic rs121918476 GRCh38 Chromosome 3, 93877155: 93877155
13 PROS1 NM_000313.3(PROS1): c.1063C> T (p.Arg355Cys) single nucleotide variant Pathogenic rs387906674 GRCh37 Chromosome 3, 93611869: 93611869
14 PROS1 NM_000313.3(PROS1): c.1063C> T (p.Arg355Cys) single nucleotide variant Pathogenic rs387906674 GRCh38 Chromosome 3, 93893025: 93893025
15 PROS1 NM_000313.3(PROS1): c.1095T> G (p.Asn365Lys) single nucleotide variant Uncertain significance rs199469491 GRCh38 Chromosome 3, 93892993: 93892993
16 PROS1 NM_000313.3(PROS1): c.946C> T (p.Arg316Cys) single nucleotide variant Uncertain significance rs373983977 GRCh37 Chromosome 3, 93615439: 93615439
17 PROS1 NM_000313.3(PROS1): c.946C> T (p.Arg316Cys) single nucleotide variant Uncertain significance rs373983977 GRCh38 Chromosome 3, 93896595: 93896595
18 PROS1 NM_000313.3(PROS1): c.1907A> G (p.Tyr636Cys) single nucleotide variant Uncertain significance rs368173480 GRCh37 Chromosome 3, 93593213: 93593213
19 PROS1 NM_000313.3(PROS1): c.1907A> G (p.Tyr636Cys) single nucleotide variant Uncertain significance rs368173480 GRCh38 Chromosome 3, 93874369: 93874369
20 PROS1 NM_000313.3(PROS1): c.1762A> G (p.Thr588Ala) single nucleotide variant Benign rs142846443 GRCh37 Chromosome 3, 93595918: 93595918
21 PROS1 NM_000313.3(PROS1): c.1762A> G (p.Thr588Ala) single nucleotide variant Benign rs142846443 GRCh38 Chromosome 3, 93877074: 93877074
22 PROS1 NM_000313.3(PROS1): c.1747A> C (p.Asn583His) single nucleotide variant Uncertain significance rs139479630 GRCh37 Chromosome 3, 93595933: 93595933
23 PROS1 NM_000313.3(PROS1): c.1747A> C (p.Asn583His) single nucleotide variant Uncertain significance rs139479630 GRCh38 Chromosome 3, 93877089: 93877089
24 PROS1 NM_000313.3(PROS1): c.1594A> G (p.Thr532Ala) single nucleotide variant Uncertain significance rs371028997 GRCh37 Chromosome 3, 93598057: 93598057
25 PROS1 NM_000313.3(PROS1): c.1594A> G (p.Thr532Ala) single nucleotide variant Uncertain significance rs371028997 GRCh38 Chromosome 3, 93879213: 93879213
26 PROS1 NM_000313.3(PROS1): c.1528G> A (p.Val510Met) single nucleotide variant Benign rs138925964 GRCh37 Chromosome 3, 93598123: 93598123
27 PROS1 NM_000313.3(PROS1): c.1528G> A (p.Val510Met) single nucleotide variant Benign rs138925964 GRCh38 Chromosome 3, 93879279: 93879279
28 PROS1 NM_000313.3(PROS1): c.1331C> T (p.Pro444Leu) single nucleotide variant Uncertain significance rs369244777 GRCh37 Chromosome 3, 93603733: 93603733
29 PROS1 NM_000313.3(PROS1): c.1331C> T (p.Pro444Leu) single nucleotide variant Uncertain significance rs369244777 GRCh38 Chromosome 3, 93884889: 93884889
30 PROS1 NM_000313.3(PROS1): c.1095T> G (p.Asn365Lys) single nucleotide variant Uncertain significance rs199469491 GRCh37 Chromosome 3, 93611837: 93611837
31 PROS1 NM_000313.3(PROS1): c.698G> A (p.Arg233Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs41267007 GRCh37 Chromosome 3, 93619677: 93619677
32 PROS1 NM_000313.3(PROS1): c.698G> A (p.Arg233Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs41267007 GRCh38 Chromosome 3, 93900833: 93900833
33 PROS1 NM_000313.3(PROS1): c.676T> A (p.Cys226Ser) single nucleotide variant Uncertain significance rs370855515 GRCh37 Chromosome 3, 93619699: 93619699
34 PROS1 NM_000313.3(PROS1): c.676T> A (p.Cys226Ser) single nucleotide variant Uncertain significance rs370855515 GRCh38 Chromosome 3, 93900855: 93900855
35 PROS1 NM_000313.3(PROS1): c.431C> A (p.Thr144Asn) single nucleotide variant Uncertain significance rs146366248 GRCh37 Chromosome 3, 93624903: 93624903
36 PROS1 NM_000313.3(PROS1): c.431C> A (p.Thr144Asn) single nucleotide variant Uncertain significance rs146366248 GRCh38 Chromosome 3, 93906059: 93906059
37 PROS1 NM_000313.3(PROS1): c.284G> A (p.Gly95Glu) single nucleotide variant Uncertain significance rs144526169 GRCh37 Chromosome 3, 93629525: 93629525
38 PROS1 NM_000313.3(PROS1): c.284G> A (p.Gly95Glu) single nucleotide variant Uncertain significance rs144526169 GRCh38 Chromosome 3, 93910681: 93910681
39 PROS1 NM_000313.3(PROS1): c.728-1G> A single nucleotide variant Likely pathogenic rs368074804 GRCh37 Chromosome 3, 93617414: 93617414
40 PROS1 NM_000313.3(PROS1): c.728-1G> A single nucleotide variant Likely pathogenic rs368074804 GRCh38 Chromosome 3, 93898570: 93898570
41 PROS1 NM_000313.3(PROS1): c.76+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201928951 GRCh38 Chromosome 3, 93973667: 93973667
42 PROS1 NM_000313.3(PROS1): c.76+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201928951 GRCh37 Chromosome 3, 93692511: 93692511
43 PROS1 NM_000313.3(PROS1): c.2001A> G (p.Pro667=) single nucleotide variant Likely benign rs6123 GRCh37 Chromosome 3, 93593119: 93593119
44 PROS1 NM_000313.3(PROS1): c.2001A> G (p.Pro667=) single nucleotide variant Likely benign rs6123 GRCh38 Chromosome 3, 93874275: 93874275
45 PROS1 NM_000313.3(PROS1): c.*197C> T single nucleotide variant Likely benign rs182088150 GRCh38 Chromosome 3, 93874048: 93874048
46 PROS1 NM_000313.3(PROS1): c.*197C> T single nucleotide variant Likely benign rs182088150 GRCh37 Chromosome 3, 93592892: 93592892
47 PROS1 NM_000313.3(PROS1): c.*155T> A single nucleotide variant Uncertain significance rs534064879 GRCh38 Chromosome 3, 93874090: 93874090
48 PROS1 NM_000313.3(PROS1): c.*155T> A single nucleotide variant Uncertain significance rs534064879 GRCh37 Chromosome 3, 93592934: 93592934
49 PROS1 NM_000313.3(PROS1): c.1377A> G (p.Gly459=) single nucleotide variant Conflicting interpretations of pathogenicity rs371312357 GRCh38 Chromosome 3, 93884843: 93884843
50 PROS1 NM_000313.3(PROS1): c.1377A> G (p.Gly459=) single nucleotide variant Conflicting interpretations of pathogenicity rs371312357 GRCh37 Chromosome 3, 93603687: 93603687

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 signal peptide processing GO:0006465 9.52 F2 PROS1
6 regulation of complement activation GO:0030449 9.5 C4BPA F2 PROS1
7 fibrinolysis GO:0042730 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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