MCID: PRT014
MIFTS: 50

Protein S Deficiency

Categories: Blood diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Protein S Deficiency

MalaCards integrated aliases for Protein S Deficiency:

Name: Protein S Deficiency 12 75 53 25 29 55 6 44 15 40 72
Hereditary Thrombophilia Due to Protein S Deficiency 25
Protein S Deficiency Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2451
MeSH 44 D018455
NCIt 50 C99026
SNOMED-CT 68 1563006
ICD10 33 D68.59
UMLS 72 C0242666

Summaries for Protein S Deficiency

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. Individuals with mild protein S deficiency are at risk of a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Other factors can raise the risk of abnormal blood clots in people with mild protein S deficiency. These factors include increasing age, surgery, immobility, or pregnancy. The combination of protein S deficiency and other inherited disorders of blood clotting can also influence risk. Many people with mild protein S deficiency never develop an abnormal blood clot, however. In severe cases of protein S deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots within small blood vessels throughout the body. These blood clots disrupt normal blood flow and can lead to death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body and is often noticeable as large, purple skin lesions. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.

MalaCards based summary : Protein S Deficiency, also known as hereditary thrombophilia due to protein s deficiency, is related to heparin-induced thrombocytopenia and esophageal varix. 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, lung and testes, and related phenotypes are homeostasis/metabolism and embryo

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.

Wikipedia : 75 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 306)
# Related Disease Score Top Affiliating Genes
1 heparin-induced thrombocytopenia 30.4 SERPINC1 F3
2 esophageal varix 30.3 SERPINC1 F2
3 coronary thrombosis 30.2 SERPINC1 F3
4 intracranial embolism 30.1 SERPINC1 F2
5 purpura fulminans 30.1 SERPINC1 PROS1 F3 F2
6 sticky platelet syndrome 30.1 SERPINC1 F5
7 anterior spinal artery syndrome 30.0 SERPINC1 F2
8 endocarditis 29.9 SERPINC1 F2 APOH
9 infective endocarditis 29.8 F2 APOH
10 disseminated intravascular coagulation 29.8 SERPINC1 F5 F3 F2
11 acute liver failure 29.7 F5 F2
12 cerebrovascular disease 29.7 MTHFR F5 F2
13 sagittal sinus thrombosis 29.6 SERPINC1 F5 F3 F2
14 protein c deficiency 29.5 SERPINC1 MTHFR F5 F2
15 leech infestation 29.5 SERPINC1 F3 F2
16 sneddon syndrome 29.5 SERPINC1 F2 APOH
17 purpura 29.4 SERPINC1 PROS1 F3 F2 APOH
18 severe pre-eclampsia 29.4 SERPINC1 F5 APOH
19 osteonecrosis 29.4 SERPINC1 MTHFR F2
20 afibrinogenemia 29.3 F5 F3 F2
21 liver cirrhosis 29.3 SERPINC1 F3 F2
22 eclampsia 29.3 SERPINC1 MTHFR F2
23 thrombotic thrombocytopenic purpura 29.3 F3 APOH
24 ischemic colitis 29.1 SERPINC1 F5 F2 APOH
25 homocysteinemia 28.9 SERPINC1 MTHFR F5 F2
26 varicose veins 28.9 SERPINC1 MTHFR F5 F2
27 sickle cell anemia 28.7 MTHFR F2
28 factor xii deficiency 28.7 SERPINC1 F5 F3 APOH
29 thrombophilia due to thrombin defect 28.6 SERPINC1 MTHFR F5 F3 F2 APOH
30 thrombophlebitis 28.6 SERPINC1 MTHFR F5 F2 APOH
31 portal vein thrombosis 28.5 SERPINC1 MTHFR F5 F2 APOH
32 retinal vein occlusion 28.4 SERPINC1 MTHFR F5 F2 APOH
33 central retinal vein occlusion 28.4 SERPINC1 MTHFR F5 F2 APOH
34 livedoid vasculitis 28.4 SERPINC1 MTHFR F2 APOH
35 antithrombin iii deficiency 28.3 SERPINC1 MTHFR F5 F2 APOH
36 pulmonary embolism 28.3 SERPINC1 MTHFR F5 F3 F2 APOH
37 heart disease 28.2 SERPINC1 MTHFR F3 F2
38 cerebral sinovenous thrombosis 28.2 PROS1 F5 F3 F2 APOH
39 intracranial thrombosis 28.2 SERPINC1 MTHFR F5 F3 APOH
40 retinal artery occlusion 28.1 SERPINC1 MTHFR F5 F2 APOH
41 catastrophic antiphospholipid syndrome 28.1 MTHFR F5 F3 APOH
42 thrombosis 28.0 SERPINC1 PROS1 MTHFR F5 F3 F2
43 branch retinal artery occlusion 28.0 SERPINC1 MTHFR F3 F2 APOH
44 placental abruption 28.0 SERPINC1 MTHFR F5 F2 APOH
45 thrombophilia 27.9 SERPINC1 PROS1 MTHFR F5 F3 F2
46 antiphospholipid syndrome 27.9 SERPINC1 MTHFR F5 F3 F2 APOH
47 stroke, ischemic 27.8 SERPINC1 MTHFR F5 F3 F2 APOH
48 thrombophilia due to activated protein c resistance 27.7 SERPINC1 MTHFR F5 F3 F2 APOH
49 myocardial infarction 27.7 SERPINC1 MTHFR F5 F3 F2
50 budd-chiari syndrome 27.6 SERPINC1 MTHFR F5 F3 F2 APOH

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 APOH F2 F3 F5 MTHFR PROS1
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 APOH F2 F3 F5 MTHFR PROS1
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 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enoxaparin Approved Phase 3 9005-49-6 772
2
Thrombin Approved, Investigational
3
Testosterone Approved, Experimental, Investigational 481-30-1, 58-22-0 6013 10204
4
Testosterone enanthate Approved 315-37-7 9416
5
Methyltestosterone Approved 58-18-4 6010
6
Testosterone undecanoate Approved, Investigational 5949-44-0
7
Vitamin C Approved, Nutraceutical 50-81-7 54670067 5785
8 Hemostatics
9 Coagulants
10 Factor VIII
11 Micronutrients
12 Estrogens
13 Trace Elements
14 Hormones
15 Androgens
16 Antioxidants
17 Estrogens, Conjugated (USP)
18 Anabolic Agents
19 Vitamins
20 Protective Agents
21 Antineoplastic Agents, Hormonal
22 Hormone Antagonists
23 Nutrients
24 Testosterone 17 beta-cypionate
25 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Essai thérapeutique randomisé Multicentrique en Double Insu, Comparant l'énoxaparine 40mg Versus Placebo, en Une Injection Sous-cutanée Quotidienne, Dans Les Fausses Couches spontanées récurrentes inexpliquées Terminated NCT00740545 Phase 3 enoxaparine 40 mg daily;placebo
2 Prevalence of Clinical and Laboratory Markers of Hypofibrinolysis in Psychotic Patients Completed NCT01487291
3 Calibrated Automated Thrombogram: A Scandinavian Multicenter Study Completed NCT03313531 Treatment with recombinant coagulation factor
4 Thromboprophylaxis in Pregnant Women in Hospital: A Prospective Clinical Trial Recruiting NCT02600260 Enoxaparin
5 Serum Androgen Levels as a Marker for the Severity of Preeclampsia Active, not recruiting NCT03744988
6 Validation of a Novel Dabigatran Based Peri-Operative Bridging Anticoagulation Protocol for Patients on Chronic Warfarin Therapy Withdrawn NCT01810237 Dabigatran.

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, Lung, Testes, Endothelial, Liver, Kidney, Heart

Publications for Protein S Deficiency

Articles related to Protein S Deficiency:

(show top 50) (show all 1237)
# Title Authors PMID Year
1
Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency. 9 38
19826897 2009
2
Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. 9 38
19466456 2009
3
Prevalence of thrombophilias in patients presenting for bariatric surgery. 9 38
19579050 2009
4
Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA). 9 38
19168201 2009
5
High long-term absolute risk of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. 9 38
19132194 2009
6
Deficiency of the natural anticoagulant proteins in women with pregnancy related venous thromboembolism. 9 38
19514602 2009
7
Etiology of hypercoagulable state in women with recurrent fetal loss without other causes of miscarriage from Southern Italy: new clinical target for antithrombotic therapy. 9 38
19707467 2008
8
Confirmation of inherited protein S deficiency by PROS1 mutational screening: Identification of three novel PROS1 mutations and haplotype analysis of p.Q279X recurrence. 9 38
18841302 2008
9
Thrombophilic dimension of recurrent fetal loss in Indian patients. 9 38
18685442 2008
10
Venous thromboembolism in live kidney donors--a prospective study. 9 38
18791446 2008
11
Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification. 9 38
18489710 2008
12
Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations. 9 38
18433462 2008
13
Severe protein S deficiency resulting from two novel mutations in PROS1 presenting with a relatively mild clinical phenotype. 9 38
18485091 2008
14
Arteriovenous thrombosis in chronic renal failure patients receiving renal replacement therapy. 9 38
18760065 2008
15
PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations. 9 38
18435454 2008
16
[Rare thrombophilic states]. 9 38
18394759 2008
17
FV Leiden mutation and risk of recurrent venous thromboembolism in Serbian population. 9 38
17549437 2008
18
[Venous thromboembolism and liver cirrhosis]. 9 38
18662076 2008
19
Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. 9 38
18322254 2008
20
Evidence-based indications for thrombophilia screening. 9 38
18512539 2008
21
Protein S deficiency, epileptic seizures, sagittal sinus thrombosis and hemorrhagic infarction after ingestion of dimenhydrinate. 9 38
18382986 2008
22
Anticoagulant therapy after retinal vein occlusion in patients with protein S deficiency (Protein S deficiency with homozygous factor V Leiden mutation in central retinal vein occlusion. Vol. 42[4]). 9 38
18059510 2007
23
Prothrombotic risk factors in children with hemiplegic cerebral palsy. 9 38
17875083 2007
24
A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency. 9 38
17938802 2007
25
An Sp1 binding site mutation of the PROS1 promoter in a patient with protein S deficiency. 9 38
17596203 2007
26
Arterial thrombosis and the role of thrombophilia. 9 38
17768691 2007
27
Patent foramen ovale and prothrombotic markers in young stroke patients. 9 38
17762528 2007
28
The prevalence of thrombophilia and venous thromboembolism in total knee arthroplasty. 9 38
17710975 2007
29
Mechanisms of ischemic stroke in HIV-infected patients. 9 38
17438215 2007
30
Utility of the clinical practice of administering thrombophilic screening and antithrombotic prophylaxis with low-molecular-weight heparin to healthy donors treated with G-CSF for mobilization of peripheral blood stem cells. 9 38
17557562 2007
31
Relationship between thrombophilic disorders and type of severe early-onset hypertensive disorder of pregnancy. 9 38
18066962 2007
32
One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis. 9 38
16868938 2006
33
Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency. 9 38
16885060 2006
34
The relationship between pregnancy induced hypertension and congenital thrombophilia. 9 38
16883445 2006
35
Utility of thrombin-generation assay in the screening of factor V G1691A (Leiden) and prothrombin G20210A mutations and protein S deficiency. 9 38
16469858 2006
36
Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. 9 38
16363235 2005
37
Thrombophilia testing in patients with venous thrombosis. 9 38
16055356 2005
38
Ischemic stroke subtypes and thrombophilia in young and elderly Brazilian stroke patients admitted to a rehabilitation hospital. 9 38
16109904 2005
39
The relationship of the factor V Leiden mutation and pregnancy outcomes for mother and fetus. 9 38
16135581 2005
40
[Venous thromboembolic disease: which coagulation screening, for whom, when?]. 9 38
16240880 2005
41
Purpura fulminans as a sequel to erythema nodosum in a child with homozygous Leiden mutation and acquired protein S deficiency. 9 38
16188867 2005
42
The incidence of venous thromboembolism in carriers of antithrombin, protein C or protein S deficiency associated with the HR2 haplotype of factor V: a family cohort study. 9 38
15978097 2005
43
Thrombophilia in children with cystic fibrosis. 9 38
15678507 2005
44
Risk factors for thrombophilia in extrahepatic portal vein obstruction. 9 38
15726653 2005
45
Risk of a first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT). 9 38
15748234 2005
46
[Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium]. 9 38
15790048 2005
47
Maternal and paternal thrombophilia: risk factors for perinatal mortality. 9 38
15713144 2005
48
Excellent outcome in infants and small children with thrombophilias undergoing kidney transplantation. 9 38
15667609 2005
49
Management options for thrombophilias. 9 38
15706484 2005
50
Anterior spinal artery syndrome in two children with genetic thrombotic disorders. 9 38
15832907 2005

Variations for Protein S Deficiency

ClinVar genetic disease variations for Protein S Deficiency:

6 (show top 50) (show all 60)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PROS1 NM_000313.3(PROS1): c.773A> G (p.Asn258Ser) single nucleotide variant Pathogenic rs121918473 3:93617368-93617368 3:93898524-93898524
2 PROS1 NM_000313.3(PROS1): c.586A> G (p.Lys196Glu) single nucleotide variant Pathogenic rs121918474 3:93624643-93624643 3:93905799-93905799
3 PROS1 PROS1, IVS10DS, G-A, +5 single nucleotide variant Pathogenic
4 PROS1 NM_000313.3(PROS1): c.2031A> T (p.Ter677Tyr) single nucleotide variant Pathogenic rs267606981 3:93593089-93593089 3:93874245-93874245
5 PROS1 PROS1, IVS11AS, A-G, -9 single nucleotide variant Pathogenic
6 PROS1 NM_000313.3(PROS1): c.835C> T (p.Gln279Ter) single nucleotide variant Pathogenic rs121918475 3:93617306-93617306 3:93898462-93898462
7 PROS1 NM_000313.3(PROS1): c.1681C> G (p.Arg561Gly) single nucleotide variant Pathogenic rs121918476 3:93595999-93595999 3:93877155-93877155
8 PROS1 NM_000313.3(PROS1): c.1063C> T (p.Arg355Cys) single nucleotide variant Pathogenic rs387906674 3:93611869-93611869 3:93893025-93893025
9 PROS1 NM_000313.3(PROS1): c.728-1G> A single nucleotide variant Likely pathogenic rs368074804 3:93617414-93617414 3:93898570-93898570
10 PROS1 NM_000313.3(PROS1): c.76+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201928951 3:93692511-93692511 3:93973667-93973667
11 PROS1 NM_000313.3(PROS1): c.1501T> C (p.Ser501Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121918472 3:93598150-93598150 3:93879306-93879306
12 PROS1 NM_000313.3(PROS1): c.698G> A (p.Arg233Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs41267007 3:93619677-93619677 3:93900833-93900833
13 PROS1 NM_000313.3(PROS1): c.1377A> G (p.Gly459=) single nucleotide variant Conflicting interpretations of pathogenicity rs371312357 3:93603687-93603687 3:93884843-93884843
14 PROS1 NM_000313.3(PROS1): c.684C> T (p.Cys228=) single nucleotide variant Uncertain significance rs377173471 3:93619691-93619691 3:93900847-93900847
15 PROS1 NM_000313.3(PROS1): c.601+12A> G single nucleotide variant Uncertain significance rs753550053 3:93624616-93624616 3:93905772-93905772
16 PROS1 NM_000313.3(PROS1): c.-116C> T single nucleotide variant Uncertain significance rs886058929 3:93692709-93692709 3:93973865-93973865
17 PROS1 NM_000313.3(PROS1): c.-135C> T single nucleotide variant Uncertain significance rs750502941 3:93692728-93692728 3:93973884-93973884
18 PROS1 NM_000313.3(PROS1): c.-60G> C single nucleotide variant Uncertain significance rs368555701 3:93692653-93692653 3:93973809-93973809
19 PROS1 NM_000313.3(PROS1): c.-62T> G single nucleotide variant Uncertain significance rs556711298 3:93692655-93692655 3:93973811-93973811
20 PROS1 NM_000313.3(PROS1): c.*119T> C single nucleotide variant Uncertain significance rs886058924 3:93592970-93592970 3:93874126-93874126
21 PROS1 NM_000313.3(PROS1): c.2003C> T (p.Ser668Leu) single nucleotide variant Uncertain significance rs886058926 3:93593117-93593117 3:93874273-93874273
22 PROS1 NM_000313.3(PROS1): c.1323+8T> G single nucleotide variant Uncertain significance rs778473220 3:93605172-93605172 3:93886328-93886328
23 PROS1 NM_000313.3(PROS1): c.585T> C (p.Asn195=) single nucleotide variant Uncertain significance rs372109285 3:93624644-93624644 3:93905800-93905800
24 PROS1 NM_000313.3(PROS1): c.503A> G (p.Asn168Ser) single nucleotide variant Uncertain significance rs144430063 3:93624726-93624726 3:93905882-93905882
25 PROS1 NM_000313.3(PROS1): c.111T> C (p.Val37=) single nucleotide variant Uncertain significance rs886058928 3:93646217-93646217 3:93927373-93927373
26 PROS1 NM_000313.3(PROS1): c.-261C> T single nucleotide variant Uncertain significance rs886058930 3:93692854-93692854 3:93974010-93974010
27 PROS1 NM_000313.3(PROS1): c.234G> A (p.Thr78=) single nucleotide variant Uncertain significance rs145399944 3:93646094-93646094 3:93927250-93927250
28 PROS1 NM_000313.3(PROS1): c.805G> A (p.Gly269Arg) single nucleotide variant Uncertain significance rs886058927 3:93617336-93617336 3:93898492-93898492
29 PROS1 NM_000313.3(PROS1): c.*86T> C single nucleotide variant Uncertain significance rs886058925 3:93593003-93593003 3:93874159-93874159
30 PROS1 NM_000313.3(PROS1): c.*221del deletion Uncertain significance rs776969264 3:93592868-93592868 3:93874024-93874024
31 PROS1 NM_000313.3(PROS1): c.*370G> A single nucleotide variant Uncertain significance rs144135580 3:93592719-93592719 3:93873875-93873875
32 PROS1 NM_000313.3(PROS1): c.*714T> C single nucleotide variant Uncertain significance rs886058923 3:93592375-93592375 3:93873531-93873531
33 PROS1 NM_000313.3(PROS1): c.676T> A (p.Cys226Ser) single nucleotide variant Uncertain significance rs370855515 3:93619699-93619699 3:93900855-93900855
34 PROS1 NM_000313.3(PROS1): c.431C> A (p.Thr144Asn) single nucleotide variant Uncertain significance rs146366248 3:93624903-93624903 3:93906059-93906059
35 PROS1 NM_000313.3(PROS1): c.284G> A (p.Gly95Glu) single nucleotide variant Uncertain significance rs144526169 3:93629525-93629525 3:93910681-93910681
36 PROS1 NM_000313.3(PROS1): c.1331C> T (p.Pro444Leu) single nucleotide variant Uncertain significance rs369244777 3:93603733-93603733 3:93884889-93884889
37 PROS1 NM_000313.3(PROS1): c.1747A> C (p.Asn583His) single nucleotide variant Uncertain significance rs139479630 3:93595933-93595933 3:93877089-93877089
38 PROS1 NM_000313.3(PROS1): c.1594A> G (p.Thr532Ala) single nucleotide variant Uncertain significance rs371028997 3:93598057-93598057 3:93879213-93879213
39 PROS1 NM_000313.3(PROS1): c.1095T> G (p.Asn365Lys) single nucleotide variant Uncertain significance rs199469491 3:93611837-93611837 3:93892993-93892993
40 PROS1 NM_000313.3(PROS1): c.946C> T (p.Arg316Cys) single nucleotide variant Uncertain significance rs373983977 3:93615439-93615439 3:93896595-93896595
41 PROS1 NM_000313.3(PROS1): c.1907A> G (p.Tyr636Cys) single nucleotide variant Uncertain significance rs368173480 3:93593213-93593213 3:93874369-93874369
42 PROS1 NM_000313.3(PROS1): c.*155T> A single nucleotide variant Uncertain significance rs534064879 3:93592934-93592934 3:93874090-93874090
43 PROS1 NM_000313.3(PROS1): c.-43G> A single nucleotide variant Uncertain significance rs370938580 3:93692636-93692636 3:93973792-93973792
44 PROS1 NM_000313.3(PROS1): c.710A> C (p.Lys237Thr) single nucleotide variant Uncertain significance rs558211174 3:93619665-93619665 3:93900821-93900821
45 PROS1 NM_000313.3(PROS1): c.1021G> A (p.Ala341Thr) single nucleotide variant Uncertain significance rs189883848 3:93611911-93611911 3:93893067-93893067
46 PROS1 NM_000313.3(PROS1): c.1494T> C (p.Asn498=) single nucleotide variant Uncertain significance rs76877671 3:93598157-93598157 3:93879313-93879313
47 PROS1 NM_000313.3(PROS1): c.*301A> G single nucleotide variant Uncertain significance rs569117154 3:93592788-93592788 3:93873944-93873944
48 PROS1 NM_000313.3(PROS1): c.*422G> T single nucleotide variant Uncertain significance rs770100925 3:93592667-93592667 3:93873823-93873823
49 PROS1 NM_000313.3(PROS1): c.*686G> A single nucleotide variant Uncertain significance rs550909963 3:93592403-93592403 3:93873559-93873559
50 PROS1 NM_000313.3(PROS1): c.*693G> A single nucleotide variant Uncertain significance rs189450409 3:93592396-93592396 3:93873552-93873552

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 SERPINC1 PROS1 F5 F3 F2 C4BPA
2 endoplasmic reticulum lumen GO:0005788 9.5 SERPINC1 F5 F2
3 collagen-containing extracellular matrix GO:0062023 9.43 SERPINC1 F3 APOH
4 platelet alpha granule lumen GO:0031093 9.37 PROS1 F5
5 blood microparticle GO:0072562 9.26 SERPINC1 PROS1 F2 C4BPA
6 extracellular space GO:0005615 9.17 SERPINC1 PROS1 F5 F3 F2 C4BPA

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.69 SERPINC1 F5 F2
2 ER to Golgi vesicle-mediated transport GO:0006888 9.67 PROS1 F5 F2
3 platelet degranulation GO:0002576 9.54 PROS1 F5 APOH
4 blood circulation GO:0008015 9.52 MTHFR F5
5 regulation of complement activation GO:0030449 9.5 PROS1 F2 C4BPA
6 fibrinolysis GO:0042730 9.48 PROS1 F2
7 blood coagulation, intrinsic pathway GO:0007597 9.46 F2 APOH
8 negative regulation of blood coagulation GO:0030195 9.43 PROS1 APOH
9 positive regulation of blood coagulation GO:0030194 9.4 F2 APOH
10 blood coagulation GO:0007596 9.35 SERPINC1 PROS1 F5 F3 F2
11 regulation of blood coagulation GO:0030193 9.33 SERPINC1 F2 APOH
12 negative regulation of fibrinolysis GO:0051918 9.26 F2 APOH
13 hemostasis GO:0007599 9.02 SERPINC1 PROS1 F5 F3 F2

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 SERPINC1 F2 APOH

Sources for Protein S Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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