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 74 52 25 29 54 6 43 15 39 71
Hereditary Thrombophilia Due to Protein S Deficiency 25
Protein S Deficiency Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2451
MeSH 43 D018455
NCIt 49 C99026
SNOMED-CT 67 1563006
ICD10 32 D68.59
UMLS 71 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 sagittal sinus thrombosis and central retinal artery occlusion. 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, heart and lung, and related phenotypes are homeostasis/metabolism and cardiovascular system

NIH Rare Diseases : 52 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 : 74 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 353)
# Related Disease Score Top Affiliating Genes
1 sagittal sinus thrombosis 30.4 SERPINC1 F5 F3 F2
2 central retinal artery occlusion 30.2 SERPINC1 F2
3 esophageal varix 30.1 SERPINC1 F3 F2
4 heparin-induced thrombocytopenia 30.1 SERPINC1 F3 F10
5 factor v leiden thrombophilia 30.0 MTHFR F5
6 intracranial embolism 29.9 SERPINC1 F3 F2
7 branch retinal artery occlusion 29.8 SERPINC1 MTHFR F3 F2
8 moyamoya disease 1 29.8 SERPINC1 MTHFR F3 F2
9 lateral sinus thrombosis 29.8 SERPINC1 MTHFR F2
10 mastoiditis 29.8 SERPINC1 MTHFR F2
11 severe pre-eclampsia 29.7 SERPINC1 F5 APOH
12 coronary thrombosis 29.7 SERPINE1 SERPINC1 F3
13 purpura fulminans 29.6 SERPINC1 PROS1 PROC F5 F3 F2
14 leech infestation 29.6 SERPINC1 F3 F10
15 compartment syndrome 29.6 SERPINC1 F8 F3 F2
16 splenic infarction 29.5 SERPINC1 F3 F2 APOH
17 portal hypertension 29.5 SERPINE1 F3 F2
18 factor xii deficiency 29.5 SERPINC1 F5 F3 APOH
19 purpura 29.5 THBD SERPINC1 PROS1 PROC F3 F2
20 infective endocarditis 29.4 SERPINE1 F2 APOH
21 budd-chiari syndrome 29.3 SERPINC1 MTHFR F5 F3 F2 APOH
22 vitamin k deficiency bleeding 29.3 SERPINC1 PROS1 F8 F3 F2
23 sticky platelet syndrome 29.3 SERPINE1 SERPINC1 F5
24 endocarditis 29.3 SERPINE1 SERPINC1 F2 APOH
25 thrombotic thrombocytopenic purpura 29.3 THBD SERPINC1 F3 APOH
26 osteonecrosis 29.2 SERPINE1 SERPINC1 MTHFR F2
27 antithrombin iii deficiency 29.1 SERPINC1 MTHFR F5 F2 F10 APOH
28 sneddon syndrome 29.0 SERPINC1 F8 F5 F2 APOH
29 livedoid vasculitis 28.9 SERPINE1 SERPINC1 MTHFR F2
30 ischemic colitis 28.8 SERPINE1 SERPINC1 F5 F2 APOH
31 venous insufficiency 28.8 SERPINE1 MTHFR F5 F2
32 central retinal vein occlusion 28.8 SERPINC1 MTHFR F8 F5 F3 F2
33 cerebral sinovenous thrombosis 28.8 PROS1 MTHFR F5 F3 F2 APOH
34 varicose veins 28.7 THBD SHBG SERPINC1 MTHFR F5 F2
35 pulmonary hypertension 28.6 THBD SERPINE1 SERPINC1 F3 F2
36 eclampsia 28.6 THBD SERPINE1 SERPINC1 MTHFR F2
37 portal vein thrombosis 28.5 SERPINE1 SERPINC1 PROC MTHFR F5 F2
38 retinal vein occlusion 28.5 SERPINE1 SERPINC1 MTHFR F5 F3 F2
39 disseminated intravascular coagulation 28.5 THBD SERPINE1 SERPINC1 F5 F3 F2
40 placental abruption 28.4 THBD SERPINC1 PROC MTHFR F5 F2
41 acute myocardial infarction 28.4 THBD SERPINE1 SERPINC1 F3 F10
42 protein c deficiency 28.3 THBD SERPINE1 SERPINC1 PROC MTHFR F5
43 cerebrovascular disease 28.2 THBD SERPINE1 MTHFR F8 F5 F2
44 intracranial thrombosis 28.2 SERPINC1 MTHFR F8 F5 F3 F2
45 homocysteinemia 28.1 THBD SERPINE1 SERPINC1 MTHFR F5 F2
46 kidney disease 28.1 THBD SERPINE1 MTHFR F3 F10
47 arteriosclerosis 28.0 THBD SHBG SERPINE1 SERPINC1 F3
48 intracranial hypertension 28.0 SERPINE1 SERPINC1 MTHFR F5 F3 F2
49 catastrophic antiphospholipid syndrome 28.0 SERPINE1 PROC MTHFR F5 F3 APOH
50 retinal artery occlusion 27.9 SERPINE1 SERPINC1 MTHFR F8 F5 F2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 APOH F10 F2 F3 F5 F8
2 cardiovascular system MP:0005385 9.97 F10 F2 F3 F5 PROC PROS1
3 integument MP:0010771 9.7 F2 F3 F5 MTHFR PROS1 SERPINE1
4 liver/biliary system MP:0005370 9.5 F5 MTHFR PROC PROS1 SERPINC1 SERPINE1
5 mortality/aging MP:0010768 9.4 APOH F10 F2 F3 F5 F8

Drugs & Therapeutics for Protein S Deficiency

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

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

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:

40
Skin, Heart, Lung, Testes, T Cells, Liver, Kidney

Publications for Protein S Deficiency

Articles related to Protein S Deficiency:

(show top 50) (show all 1247)
# Title Authors PMID Year
1
Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency. 54 61
19826897 2009
2
Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. 54 61
19466456 2009
3
Prevalence of thrombophilias in patients presenting for bariatric surgery. 54 61
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). 54 61
19168201 2009
5
High long-term absolute risk of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. 54 61
19132194 2009
6
Deficiency of the natural anticoagulant proteins in women with pregnancy related venous thromboembolism. 54 61
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. 54 61
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. 54 61
18841302 2008
9
Thrombophilic dimension of recurrent fetal loss in Indian patients. 54 61
18685442 2008
10
Venous thromboembolism in live kidney donors--a prospective study. 54 61
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. 54 61
18489710 2008
12
Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations. 54 61
18433462 2008
13
Severe protein S deficiency resulting from two novel mutations in PROS1 presenting with a relatively mild clinical phenotype. 54 61
18485091 2008
14
Arteriovenous thrombosis in chronic renal failure patients receiving renal replacement therapy. 54 61
18760065 2008
15
PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations. 54 61
18435454 2008
16
[Rare thrombophilic states]. 54 61
18394759 2008
17
FV Leiden mutation and risk of recurrent venous thromboembolism in Serbian population. 54 61
17549437 2008
18
[Venous thromboembolism and liver cirrhosis]. 54 61
18662076 2008
19
Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. 54 61
18322254 2008
20
Evidence-based indications for thrombophilia screening. 54 61
18512539 2008
21
Protein S deficiency, epileptic seizures, sagittal sinus thrombosis and hemorrhagic infarction after ingestion of dimenhydrinate. 54 61
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]). 54 61
18059510 2007
23
Prothrombotic risk factors in children with hemiplegic cerebral palsy. 54 61
17875083 2007
24
A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency. 54 61
17938802 2007
25
An Sp1 binding site mutation of the PROS1 promoter in a patient with protein S deficiency. 54 61
17596203 2007
26
Arterial thrombosis and the role of thrombophilia. 54 61
17768691 2007
27
Patent foramen ovale and prothrombotic markers in young stroke patients. 54 61
17762528 2007
28
The prevalence of thrombophilia and venous thromboembolism in total knee arthroplasty. 54 61
17710975 2007
29
Mechanisms of ischemic stroke in HIV-infected patients. 54 61
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. 54 61
17557562 2007
31
Relationship between thrombophilic disorders and type of severe early-onset hypertensive disorder of pregnancy. 54 61
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. 54 61
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. 54 61
16885060 2006
34
The relationship between pregnancy induced hypertension and congenital thrombophilia. 54 61
16883445 2006
35
Utility of thrombin-generation assay in the screening of factor V G1691A (Leiden) and prothrombin G20210A mutations and protein S deficiency. 54 61
16469858 2006
36
Thrombophilia testing in patients with venous thrombosis. 54 61
16055356 2005
37
Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. 54 61
16363235 2005
38
Ischemic stroke subtypes and thrombophilia in young and elderly Brazilian stroke patients admitted to a rehabilitation hospital. 54 61
16109904 2005
39
The relationship of the factor V Leiden mutation and pregnancy outcomes for mother and fetus. 54 61
16135581 2005
40
[Venous thromboembolic disease: which coagulation screening, for whom, when?]. 54 61
16240880 2005
41
Purpura fulminans as a sequel to erythema nodosum in a child with homozygous Leiden mutation and acquired protein S deficiency. 54 61
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. 54 61
15978097 2005
43
Thrombophilia in children with cystic fibrosis. 54 61
15678507 2005
44
Risk factors for thrombophilia in extrahepatic portal vein obstruction. 54 61
15726653 2005
45
Risk of a first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT). 54 61
15748234 2005
46
[Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium]. 54 61
15790048 2005
47
Maternal and paternal thrombophilia: risk factors for perinatal mortality. 54 61
15713144 2005
48
Excellent outcome in infants and small children with thrombophilias undergoing kidney transplantation. 54 61
15667609 2005
49
Management options for thrombophilias. 54 61
15706484 2005
50
Recurrent miscarriage syndrome and infertility due to blood coagulation protein/platelet defects: a review and update. 54 61
15678268 2005

Variations for Protein S Deficiency

ClinVar genetic disease variations for Protein S Deficiency:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PROS1 NM_001314077.1(PROS1):c.869A>G (p.Asn290Ser)SNV Pathogenic 13317 rs121918473 3:93617368-93617368 3:93898524-93898524
2 PROS1 NM_001314077.1(PROS1):c.682A>G (p.Lys228Glu)SNV Pathogenic 13318 rs121918474 3:93624643-93624643 3:93905799-93905799
3 PROS1 PROS1, IVS10DS, G-A, +5SNV Pathogenic 13319
4 PROS1 NM_001314077.1(PROS1):c.2127A>T (p.Ter709Tyr)SNV Pathogenic 13320 rs267606981 3:93593089-93593089 3:93874245-93874245
5 PROS1 PROS1, IVS11AS, A-G, -9SNV Pathogenic 13321
6 PROS1 NM_001314077.1(PROS1):c.931C>T (p.Gln311Ter)SNV Pathogenic 13322 rs121918475 3:93617306-93617306 3:93898462-93898462
7 PROS1 NM_001314077.1(PROS1):c.1159C>T (p.Arg387Cys)SNV Pathogenic 29846 rs387906674 3:93611869-93611869 3:93893025-93893025
8 PROS1 NM_001314077.1(PROS1):c.824-1G>ASNV Likely pathogenic 162509 rs368074804 3:93617414-93617414 3:93898570-93898570
9 PROS1 NM_001314077.1(PROS1):c.76+7A>GSNV Conflicting interpretations of pathogenicity 215729 rs201928951 3:93692511-93692511 3:93973667-93973667
10 PROS1 NM_001314077.1(PROS1):c.1597T>C (p.Ser533Pro)SNV Conflicting interpretations of pathogenicity 13316 rs121918472 3:93598150-93598150 3:93879306-93879306
11 PROS1 NM_001314077.1(PROS1):c.380G>A (p.Gly127Glu)SNV Conflicting interpretations of pathogenicity 161354 rs144526169 3:93629525-93629525 3:93910681-93910681
12 PROS1 NM_001314077.1(PROS1):c.1191T>G (p.Asn397Lys)SNV Conflicting interpretations of pathogenicity 161352 rs199469491 3:93611837-93611837 3:93892993-93892993
13 PROS1 NM_001314077.1(PROS1):c.794G>A (p.Arg265Lys)SNV Conflicting interpretations of pathogenicity 161346 rs41267007 3:93619677-93619677 3:93900833-93900833
14 PROS1 NM_001314077.1(PROS1):c.215G>T (p.Arg72Leu)SNV Conflicting interpretations of pathogenicity 346893 rs7614835 3:93646209-93646209 3:93927365-93927365
15 PROS1 NM_001314077.1(PROS1):c.1473A>G (p.Gly491=)SNV Conflicting interpretations of pathogenicity 346882 rs371312357 3:93603687-93603687 3:93884843-93884843
16 PROS1 NM_001314077.1(PROS1):c.1590T>C (p.Asn530=)SNV Conflicting interpretations of pathogenicity 346881 rs76877671 3:93598157-93598157 3:93879313-93879313
17 PROS1 NM_001314077.1(PROS1):c.1117G>A (p.Ala373Thr)SNV Conflicting interpretations of pathogenicity 346885 rs189883848 3:93611911-93611911 3:93893067-93893067
18 PROS1 NM_001314077.1(PROS1):c.806A>C (p.Lys269Thr)SNV Uncertain significance 346887 rs558211174 3:93619665-93619665 3:93900821-93900821
19 PROS1 NM_001314077.1(PROS1):c.681T>C (p.Asn227=)SNV Uncertain significance 346890 rs372109285 3:93624644-93624644 3:93905800-93905800
20 PROS1 NM_001314077.1(PROS1):c.599A>G (p.Asn200Ser)SNV Uncertain significance 346891 rs144430063 3:93624726-93624726 3:93905882-93905882
21 PROS1 NM_000313.4(PROS1):c.1871-14T>GSNV Uncertain significance 801989 3:93593263-93593263 3:93874419-93874419
22 PROS1 NM_001314077.1(PROS1):c.*86T>CSNV Uncertain significance 346879 rs886058925 3:93593003-93593003 3:93874159-93874159
23 PROS1 NM_001314077.1(PROS1):c.*370G>ASNV Uncertain significance 346873 rs144135580 3:93592719-93592719 3:93873875-93873875
24 PROS1 NM_001314077.1(PROS1):c.901G>A (p.Gly301Arg)SNV Uncertain significance 346886 rs886058927 3:93617336-93617336 3:93898492-93898492
25 PROS1 NM_001314077.1(PROS1):c.330G>A (p.Thr110=)SNV Uncertain significance 346892 rs145399944 3:93646094-93646094 3:93927250-93927250
26 PROS1 NM_001314077.1(PROS1):c.-60G>CSNV Uncertain significance 346896 rs368555701 3:93692653-93692653 3:93973809-93973809
27 PROS1 NM_001314077.1(PROS1):c.-62T>GSNV Uncertain significance 346897 rs556711298 3:93692655-93692655 3:93973811-93973811
28 PROS1 NM_001314077.1(PROS1):c.207T>C (p.Val69=)SNV Uncertain significance 346894 rs886058928 3:93646217-93646217 3:93927373-93927373
29 PROS1 NM_001314077.1(PROS1):c.-261C>TSNV Uncertain significance 346900 rs886058930 3:93692854-93692854 3:93974010-93974010
30 PROS1 NM_001314077.1(PROS1):c.*119T>CSNV Uncertain significance 346878 rs886058924 3:93592970-93592970 3:93874126-93874126
31 PROS1 NM_001314077.1(PROS1):c.2099C>T (p.Ser700Leu)SNV Uncertain significance 346880 rs886058926 3:93593117-93593117 3:93874273-93874273
32 PROS1 NM_001314077.1(PROS1):c.1419+8T>GSNV Uncertain significance 346883 rs778473220 3:93605172-93605172 3:93886328-93886328
33 PROS1 NM_001314077.1(PROS1):c.780C>T (p.Cys260=)SNV Uncertain significance 346888 rs377173471 3:93619691-93619691 3:93900847-93900847
34 PROS1 NM_001314077.1(PROS1):c.697+12A>GSNV Uncertain significance 346889 rs753550053 3:93624616-93624616 3:93905772-93905772
35 PROS1 NM_001314077.1(PROS1):c.-116C>TSNV Uncertain significance 346898 rs886058929 3:93692709-93692709 3:93973865-93973865
36 PROS1 NM_001314077.1(PROS1):c.-135C>TSNV Uncertain significance 346899 rs750502941 3:93692728-93692728 3:93973884-93973884
37 PROS1 NM_001314077.1(PROS1):c.*1167_*1170deldeletion Uncertain significance 346865 rs886058921 3:93591919-93591922 3:93873075-93873078
38 PROS1 NM_001314077.1(PROS1):c.*1139C>ASNV Uncertain significance 346866 rs886058922 3:93591950-93591950 3:93873106-93873106
39 PROS1 NM_001314077.1(PROS1):c.*783C>TSNV Uncertain significance 346867 rs137965257 3:93592306-93592306 3:93873462-93873462
40 PROS1 NM_001314077.1(PROS1):c.*693G>ASNV Uncertain significance 346869 rs189450409 3:93592396-93592396 3:93873552-93873552
41 PROS1 NM_001314077.1(PROS1):c.*686G>ASNV Uncertain significance 346870 rs550909963 3:93592403-93592403 3:93873559-93873559
42 PROS1 NM_001314077.1(PROS1):c.*422G>TSNV Uncertain significance 346872 rs770100925 3:93592667-93592667 3:93873823-93873823
43 PROS1 NM_001314077.1(PROS1):c.*301A>GSNV Uncertain significance 346874 rs569117154 3:93592788-93592788 3:93873944-93873944
44 PROS1 NM_001314077.1(PROS1):c.-43G>ASNV Uncertain significance 346895 rs370938580 3:93692636-93692636 3:93973792-93973792
45 PROS1 NM_001314077.1(PROS1):c.*221deldeletion Uncertain significance 346875 rs776969264 3:93592868-93592868 3:93874024-93874024
46 PROS1 NM_001314077.1(PROS1):c.*714T>CSNV Uncertain significance 346868 rs886058923 3:93592375-93592375 3:93873531-93873531
47 PROS1 NM_001314077.1(PROS1):c.*155T>ASNV Uncertain significance 346877 rs534064879 3:93592934-93592934 3:93874090-93874090
48 PROS1 NM_001314077.1(PROS1):c.772T>A (p.Cys258Ser)SNV Uncertain significance 161353 rs370855515 3:93619699-93619699 3:93900855-93900855
49 PROS1 NM_001314077.1(PROS1):c.527C>A (p.Thr176Asn)SNV Uncertain significance 161347 rs146366248 3:93624903-93624903 3:93906059-93906059
50 PROS1 NM_001314077.1(PROS1):c.1042C>T (p.Arg348Cys)SNV Uncertain significance 161345 rs373983977 3:93615439-93615439 3:93896595-93896595

Expression for Protein S Deficiency

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

Pathways for Protein S Deficiency

Pathways related to Protein S Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 THBD SERPINE1 SERPINC1 PROS1 PROC F8
2
Show member pathways
12.64 THBD SERPINC1 PROS1 PROC F8 F5
3
Show member pathways
11.96 THBD PROS1 PROC F2
4
Show member pathways
11.86 THBD SERPINE1 SERPINC1 PROS1 PROC F8
5
Show member pathways
11.7 PROS1 PROC F2 F10
6 11.61 THBD SERPINE1 F3
7 11.52 THBD SERPINE1 SERPINC1 PROS1 PROC F8
8 10.8 PROS1 PROC F2 F10

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 plasma membrane GO:0005886 10.16 THBD SERPINE1 SERPINC1 PROS1 F8 F5
2 collagen-containing extracellular matrix GO:0062023 9.77 SERPINE1 SERPINC1 F3 F2 APOH
3 extracellular region GO:0005576 9.73 SHBG SERPINE1 SERPINC1 PROS1 PROC F8
4 blood microparticle GO:0072562 9.71 SERPINC1 PROS1 F2 C4BPA
5 endoplasmic reticulum lumen GO:0005788 9.63 SERPINC1 PROC F8 F5 F2 F10
6 Golgi lumen GO:0005796 9.62 PROS1 PROC F2 F10
7 platelet alpha granule lumen GO:0031093 9.56 SERPINE1 PROS1 F8 F5
8 intrinsic component of external side of plasma membrane GO:0031233 9.43 F3 F10
9 extracellular space GO:0005615 9.4 THBD SERPINE1 SERPINC1 PROS1 PROC F8

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 9.81 SERPINC1 PROC F5 F2
2 ER to Golgi vesicle-mediated transport GO:0006888 9.8 PROS1 PROC F8 F5 F2 F10
3 platelet degranulation GO:0002576 9.77 SERPINE1 PROS1 F8 F5 APOH
4 negative regulation of endopeptidase activity GO:0010951 9.72 SERPINE1 SERPINC1 PROS1
5 regulation of complement activation GO:0030449 9.71 PROS1 F2 C4BPA
6 fibrinolysis GO:0042730 9.65 SERPINE1 PROS1 F2
7 blood coagulation, intrinsic pathway GO:0007597 9.63 F8 F2 APOH
8 positive regulation of blood coagulation GO:0030194 9.61 SERPINE1 F2 APOH
9 blood coagulation GO:0007596 9.61 THBD SERPINC1 PROS1 PROC F8 F5
10 regulation of blood coagulation GO:0030193 9.58 SERPINC1 F2 APOH
11 negative regulation of fibrinolysis GO:0051918 9.56 THBD SERPINE1 F2 APOH
12 negative regulation of blood coagulation GO:0030195 9.55 THBD SERPINE1 PROS1 PROC APOH
13 negative regulation of platelet activation GO:0010544 9.52 THBD F2
14 blood coagulation, extrinsic pathway GO:0007598 9.49 F3 F10
15 hemostasis GO:0007599 9.28 THBD SERPINC1 PROS1 PROC F8 F5

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.65 THBD PROS1 PROC F2 F10
2 heparin binding GO:0008201 9.54 SERPINC1 F2 APOH
3 serine-type peptidase activity GO:0008236 9.5 PROC F2 F10
4 phospholipid binding GO:0005543 9.33 F3 F10 APOH
5 protease binding GO:0002020 9.13 SERPINE1 SERPINC1 F3
6 serine-type endopeptidase activity GO:0004252 8.92 PROC F3 F2 F10

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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