MCID: PRT014
MIFTS: 53

Protein S Deficiency malady

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Protein S Deficiency

Aliases & Descriptions for Protein S Deficiency:

Name: Protein S Deficiency 12 71 50 24 25 52 42 14 69
Protein S Deficiency Disease 12 29
Hereditary Thrombophilia Due to Protein S Deficiency 25

Classifications:



External Ids:

Disease Ontology 12 DOID:2451
ICD10 33 D68.59
MeSH 42 D018455
NCIt 47 C99026
SNOMED-CT 64 1563006
UMLS 69 C0242666

Summaries for Protein S Deficiency

NIH Rare Diseases : 50 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 protein s deficiency disease, is related to lupus erythematosus and myocardial infarction. An important gene associated with Protein S Deficiency is PROS1 (Protein S (Alpha)), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Dalteparin and Heparin 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 : 71 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 251)
id Related Disease Score Top Affiliating Genes
1 lupus erythematosus 29.8 F3 SERPINC1
2 myocardial infarction 29.1 F2 F3 F5 MTHFR SERPINC1
3 central retinal artery occlusion 28.6 APOH F2 F3 MTHFR SERPINC1
4 budd-chiari syndrome 28.3 APOH F2 F3 F5 MTHFR SERPINC1
5 thrombophilia due to protein s deficiency, autosomal dominant 12.3
6 thrombophilia due to protein s deficiency, autosomal recessive 12.3
7 hereditary thrombophilia due to congenital protein s deficiency 11.9
8 thrombosis 10.5
9 social phobia 10.2 F2 PROS1
10 miller-dieker lissencephaly syndrome 10.2 F2 SERPINC1
11 congenital insensitivity to pain with severe intellectual disability 10.2 F2 F5
12 peanut allergy 10.2 F2 SERPINC1
13 schwannoma of jugular foramen 10.2 F2 SERPINC1
14 oxyphilic adenoma 10.2 F2 F5
15 stt3a-cdg and stt3b-cdg 10.2 F5 SERPINC1
16 cerebellar astrocytoma 10.2 F2 SERPINC1
17 periosteal chondrosarcoma 10.2 F2 SERPINC1
18 angelucci's syndrome 10.2 F2 SERPINC1
19 scn8a-related epilepsy with encephalopathy 10.2 F2 MTHFR
20 porphyria 10.2 F2 MTHFR
21 ovarian papillary cystadenoma 10.2 F2 SERPINC1
22 multiple familial trichoepithelioma 10.2 F5 MTHFR
23 absence of innominate vein 10.2 F5 MTHFR
24 aminoaciduria 10.2 F5 MTHFR
25 hemarthrosis 10.1 F2 F3
26 mental retardation hypotonia skin hyperpigmentation 10.1 F5 SERPINC1
27 alpha-2-macroglobulin deficiency 10.1 F2 F3
28 prostatic hypertrophy 10.1 F2 F3
29 dyskinetic cerebral palsy 10.1 F2 F3
30 cerebritis 10.1
31 sporotrichosis 10.1 F2 F3
32 sertoli cell tumor 10.1 F3 SERPINC1
33 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 10.1 F3 SERPINC1
34 chronic inflammatory demyelinating polyneuritis 10.1 F2 F3
35 seminoma 10.1 F2 F3
36 brain stem cancer 10.1 F2 F3
37 acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia 10.1 F3 F5
38 acrodysplasia scoliosis 10.1 F3 F5
39 secretory diarrhea myopathy and deafness 10.1 F3 SERPINC1
40 conjunctivochalasis 10.1 F3 SERPINC1
41 monocular exotropia 10.1 F3 SERPINC1
42 spinocerebellar ataxia 27 10.1 F2 F3
43 neuroaxonal dystrophy 10.1 F2 F5 SERPINC1
44 inherited blood coagulation disease 10.1 F3 F5
45 gastrointestinal defects and immunodeficiency syndrome 10.1 F5 MTHFR
46 mobitz type ii atrioventricular block 10.1 F2 F3
47 eagle syndrome 10.1 F2 F5 SERPINC1
48 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 10.1 F2 F3
49 landau-kleffner syndrome 10.1 APOH F2
50 prostatitis 10.1 APOH 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 F5 MTHFR PROS1 SERPINC1 APOH F2
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 F3 F5 MTHFR PROS1 SERPINC1 F2

Drugs & Therapeutics for Protein S Deficiency

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

(show top 50) (show all 366)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4 9041-08-1
2
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
3
Acetylcysteine Approved, Investigational Phase 4,Phase 2 616-91-1 12035
4
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
5
Nevirapine Approved Phase 4,Early Phase 1 129618-40-2 4463
6
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
7
Maraviroc Approved, Investigational Phase 4,Phase 3 376348-65-1 3002977
8
Darunavir Approved Phase 4,Phase 3 635728-49-3, 206361-99-1 213039
9
Etravirine Approved Phase 4,Phase 3 269055-15-4 193962
10
Lopinavir Approved Phase 4,Early Phase 1 192725-17-0 92727
11
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 155213-67-5 392622
12
Tenofovir Approved, Investigational Phase 4,Phase 3 147127-20-6 464205
13
Amikacin Approved, Vet_approved Phase 4 37517-28-5 37768
14
Aminosalicylic Acid Approved Phase 4 65-49-6 4649
15
Bedaquiline Approved Phase 4 843663-66-1
16
Capreomycin Approved Phase 4 11003-38-6 3000502
17
Clofazimine Approved, Investigational Phase 4 2030-63-9 2794
18
Cobicistat Approved Phase 4,Phase 3 1004316-88-4
19
Cycloserine Approved Phase 4 68-41-7 401 6234
20
Desogestrel Approved Phase 4 54024-22-5 40973
21 Dolutegravir Approved Phase 4 1051375-16-6 54726191
22
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
23
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
24
Ethambutol Approved Phase 4 74-55-5 3279 14052
25
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
26
Ethionamide Approved Phase 4 536-33-4 2761171
27
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
28
Isoniazid Approved Phase 4 54-85-3 3767
29
Kanamycin Approved, Vet_approved Phase 4 8063-07-8, 59-01-8 6032
30
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
31
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
32
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
33
Norgestimate Approved Phase 4 35189-28-7 6540478
34
Ofloxacin Approved Phase 4 82419-36-1 4583
35
Pyrazinamide Approved Phase 4 98-96-4 1046
36
Rifampin Approved Phase 4 13292-46-1 5458213 5381226
37
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
38 Anticoagulants Phase 4,Phase 2
39 calcium heparin Phase 4
40 Fibrinolytic Agents Phase 4
41 Heparin, Low-Molecular-Weight Phase 4
42 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
43 Hormones Phase 4,Phase 3,Phase 2,Phase 1
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
45 Imatinib Mesylate Phase 4 123596
46 Bone Density Conservation Agents Phase 4,Phase 2
47 Calcifediol Phase 4 19356-17-3
48 Ergocalciferols Phase 4
49 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
50 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 151)
id Name Status NCT ID Phase
1 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4
2 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4
3 Value Antiproteinuric Effects From Vitamin D Derivatives in Patient With Chronic Kidney Illness and the Lack of Vitamin D Unknown status NCT01442272 Phase 4
4 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4
5 An Open-label, Non-randomized, Single-arm Study to Investigate the Mechanism(s) by Which Nevirapine Increases Plasma HDL in HIV+ Subjects Completed NCT00144261 Phase 4
6 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4
7 Mupirocin Ointment to Eliminate Nasal Carriage of Staphylococcus Aureus in HIV Infection Completed NCT00801879 Phase 4
8 Maraviroc in Immunological Non-Responder (INR) HIV-1-infected Subjects Completed NCT00884858 Phase 4
9 Pharmacokinetic Study of Antiretroviral Drugs and Related Drugs During and After Pregnancy Recruiting NCT00042289 Phase 4
10 Integrase and Maraviroc Intensification for Neurocognitive Dysfunction (InMIND) Recruiting NCT02519777 Phase 4
11 Efficacy and Safety Study of Kedrion IVIG 10% to Treat Subjects With Primary Immunodeficiency (PID) Unknown status NCT01581593 Phase 3
12 The Use of Nutropin Depot in HIV-Infected Adult Males Unknown status NCT00286676 Phase 2, Phase 3
13 Safety and Efficacy of Somatropin in Children With Growth Hormone Deficiency Completed NCT01502124 Phase 3
14 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
15 Safety of Monthly Recombinant Factor XIII Replacement Therapy in Subjects With Congenital Factor XIII Deficiency: An Extension to Trial F13CD-1725 Completed NCT00978380 Phase 3
16 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3
17 Pharmacokinetics, Efficacy and Safety Study of IMMUNATE SD (Human Plasma-Derived Coagulation Factor VIII Concentrate) in Hemophilia A Patients Completed NCT00162019 Phase 3
18 Evaluation of Long-term Efficacy of Treatment With Lamazym Completed NCT02478840 Phase 3
19 Zinc Supplementation in Shigella Patients Completed NCT00321126 Phase 3
20 Serological Response to Antipneumococcal Vaccination and Impact on Streptococcus Pneumoniae Nasal Carriage in HIV Adults Completed NCT02123433 Phase 3
21 The Effects of 8-week Choline, Betaine, and Folic Acid Supplementation on Plasma Homocysteine Concentration During Guanidinoacetic Acid Loading in Young Healthy Volunteers Completed NCT01371357 Phase 3
22 An International Study to Evaluate Recombinant Interleukin-2 in HIV Positive Patients Taking Anti-retroviral Therapy Completed NCT00004978 Phase 3
23 Primary and Booster Vaccination Study With a Pneumococcal Vaccine in HIV Infected, HIV Exposed Uninfected and HIV Uninfected Children 6 to 10 Weeks of Age. Completed NCT00829010 Phase 3
24 Effectiveness of Giving an HIV Vaccine (Remune) to HIV-Positive Patients Receiving an Anti-HIV Drug Combination Completed NCT00005758 Phase 3
25 A Phase III Comparative Study of Dapsone / Trimethoprim and Clindamycin / Primaquine Versus Sulfamethoxazole / Trimethoprim in the Treatment of Mild-to-Moderate PCP in Patients With AIDS Completed NCT00000640 Phase 3
26 Optimizing Treatment for Treatment-Experienced, HIV-Infected People Completed NCT00537394 Phase 3
27 Ph 3/4 GLASSIA Safety, Immunogenicity, and Bronchoalveolar Lavage Study Recruiting NCT02525861 Phase 3
28 Effect of PROgressive Training and TESTsterone in Older Frail Men Recruiting NCT02873559 Phase 2, Phase 3
29 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Recruiting NCT01671384 Phase 3
30 Effects of Interleukin-1 Beta on Low Testosterone Levels in Men With Obesity and Metabolic Syndrome Recruiting NCT02672592 Phase 3
31 Efficacy and Safety of Alpha1-Proteinase Inhibitor (Human), Modified Process (Alpha-1 MP) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency (AATD) Recruiting NCT01983241 Phase 3
32 Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen Deficiency Recruiting NCT02408484 Phase 3
33 EZN-2279 in Patients With ADA-SCID Recruiting NCT01420627 Phase 3
34 Pivotal Phase 2b/3 ALVAC/Bivalent gp120/MF59 HIV Vaccine Prevention Safety and Efficacy Study in South Africa Recruiting NCT02968849 Phase 2, Phase 3
35 The VITAL Amyloidosis Study, a Global Phase 3, Efficacy and Safety Study of NEOD001 in Patients With AL Amyloidosis Active, not recruiting NCT02312206 Phase 3
36 Study to Evaluate the Safety and Efficacy of E/C/F/TAF (Genvoya®) Versus E/C/F/TDF (Stribild®) in HIV-1 Positive, Antiretroviral Treatment-Naive Adults Active, not recruiting NCT01797445 Phase 3
37 Comparison of Bovine Colostrum Versus Placebo in Treatment of Severe Alcoholic Hepatitis: A Randomized Double Blind Controlled Trial Not yet recruiting NCT02473341 Phase 3
38 Prevention of Unexplained Recurrent Abortion by Enoxaparine Terminated NCT00740545 Phase 3
39 Saizen® Solution for Injection Adult Growth Hormone Deficiency (GHD) Immunogenicity Study Terminated NCT01237340 Phase 3
40 Fibrinogen Concentrate (Human) − Efficacy and Safety Study Withdrawn NCT00916656 Phase 3
41 Molecular Mechanism of POP Kidney Yin Deficiency Syndrome From the Interventional Effects of CLCF1 Unknown status NCT01834105 Phase 2
42 S0115, High-Dose Melphalan and Autologous Peripheral Stem Cell Transplantation in Treating Patients With Multiple Myeloma or Primary Systemic Amyloidosis Unknown status NCT00064337 Phase 2
43 Efficacy of Combination Therapy of Glucocorticoids and Bovine Colostrum in Treatment of Severe Alcoholic Hepatitis. Completed NCT02265328 Phase 2
44 N-Acetylcysteine and Milk Thistle for Treatment of Diabetic Nephropathy Completed NCT01265563 Phase 2
45 Randomized Controlled Trial of Calcitriol vs. Placebo Among Critically-ill Patients With Sepsis Completed NCT01689441 Phase 2
46 Safety and Pharmacokinetics of Alpha-1 Proteinase Inhibitor in Subjects With Alpha1-Antitrypsin Deficiency Completed NCT01213043 Phase 2
47 Ilaris (Canakinumab) in the Schnitzler Syndrome Completed NCT01245127 Phase 2
48 Supplementation With Cholecalciferol in Dialysis Patients Completed NCT01974245 Phase 2
49 Use of Antithrombin in Cardiac Surgery With Cardiopulmonary Bypass Completed NCT00823082 Phase 2
50 Safety, Pharmacokinetic and Efficacy Study of a 10% Triple Virally Reduced Intravenous Immune Globulin Solution in Patients With Primary Immunodeficiency (Hypo- or Agammaglobulinemia) Completed NCT00161993 Phase 2

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:

id Genetic test Affiliating Genes
1 Protein S Deficiency 29 24 PROS1

Anatomical Context for Protein S Deficiency

MalaCards organs/tissues related to Protein S Deficiency:

39
Skin, Testes, Liver, Heart, Endothelial, T Cells, Bone

Publications for Protein S Deficiency

Articles related to Protein S Deficiency:

(show top 50) (show all 510)
id Title Authors Year
1
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
2
Thrombin generation and other coagulation parameters in a patient with homozygous congenital protein S deficiency on treatment with rivaroxaban. ( 26586461 )
2016
3
Protein S deficiency complicated pregnancy in women with recurrent pregnancy loss. ( 26941215 )
2016
4
A novel PROS1 mutation, c.74dupA, was identified in a protein S deficiency family. ( 27846449 )
2016
5
Livedoid vasculopathy and popliteal artery occlusion in a patient with protein S deficiency. ( 27774697 )
2016
6
Antithrombotic prophylaxis in a patient with nephrotic syndrome and congenital protein S deficiency. ( 26928822 )
2016
7
Protein S testing in patients with protein S deficiency, factor V Leiden, and rivaroxaban by North American Specialized Coagulation Laboratories. ( 27075008 )
2016
8
Acquired protein S deficiency manifests as pulmonary embolism in early pregnancy: a case report. ( 27595759 )
2016
9
Ertapenem-Induced Acute Interstitial Nephritis (AIN) in a Case of Protein S Deficiency and Factor V Leiden Mutation with Deep Vein Thrombosis. ( 27731567 )
2016
10
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
11
Successful penile reconstruction following prior arteriovenous loop thrombosis due to undiagnosed protein-S deficiency and exogenous testosterone. ( 27833295 )
2016
12
Malignant isolated cortical vein thrombosis with type II protein S deficiency: a case report. ( 27193638 )
2016
13
Combined protein C and protein S deficiency presenting as multiple thrombotic events. ( 27728288 )
2016
14
A rare presentation of pregnancy-acquired protein S deficiency : Pupura fulminans. ( 27727695 )
2016
15
Intraventricular Hemorrhage in a Term Neonate: Manifestation of Protein S Deficiency- A Case Report. ( 27252923 )
2016
16
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism. ( 27748013 )
2016
17
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
18
Birthweight in pregnant women with protein S deficiency treated with low-molecular-weight heparin: a retrospective cohort study. ( 27677928 )
2016
19
Protein S deficiency present in a pregnant woman with dyspnea, abdominal pains, restlessness, agitation and hypofibrinogenemia. ( 25914811 )
2015
20
PROS1 genotype phenotype relationships in a large cohort of adults with suspicion of inherited quantitative protein S deficiency. ( 26466767 )
2015
21
A Case of Postinfectious Protein S Deficiency Masquerading as Henoch-SchAPnlein Purpura. ( 26063758 )
2015
22
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
23
Hereditary protein S deficiency leads to ischemic stroke. ( 25997409 )
2015
24
Late onset thrombosis in two Japanese patients with compound heterozygote protein S deficiency. ( 25868595 )
2015
25
Retiform Purpura Associated With Protein S Deficiency. ( 26708564 )
2015
26
Recurrent Postoperative Spinal Epidural Hematoma in a Patient with Protein S Deficiency. ( 26236521 )
2015
27
Acute ST Elevated Myocardial Injury due to Coronary Thrombosis during Thoracic Endovascular Aortic Repair in Patient with Protein S Deficiency. ( 25469146 )
2014
28
Coronary artery bypass grafting in a patient with protein S deficiency: perioperative implications. ( 24994735 )
2014
29
Skin necrosis: a rare complication of protein S deficiency. ( 24600778 )
2014
30
Stroke in young with primary protein--S deficiency. ( 25906532 )
2014
31
Role of protein S deficiency in children with venous thromboembolism. An observational international cohort study. ( 25272994 )
2014
32
Protein S deficiency and novel oral anticoagulants: an intriguing case. ( 24642006 )
2014
33
Coronary artery bypass grafting in 2 thrombophilic patients with protein s deficiency. ( 25611767 )
2014
34
Heerlen polymorphism associated with type III protein S deficiency and factor V Leiden mutation in a Polish patient with deep vein thrombosis. ( 24365770 )
2014
35
Cerebral venous thrombosis in young adult with familial protein S deficiency. ( 25304012 )
2014
36
PROS1 mutations associated with protein S deficiency in Polish patients with residual vein obstruction on rivaroxaban therapy. ( 24507871 )
2014
37
The genomic architecture of the PROS1 gene underlying large tandem duplication mutation that causes thrombophilia from hereditary protein S deficiency. ( 24992033 )
2014
38
Staphylococcal endocarditis as the first manifestation of heritable protein S deficiency in childhood. ( 24462440 )
2014
39
Protein S Deficiency and an Adult Case with Moyamoya Syndrome that Presented with Primary Intraventricular Haemorrhage. ( 25207193 )
2014
40
Rapidly progressive cognitive impairment in a patient with high flow dural arteriovenous fistulas, cerebral sinus thrombosis and protein S deficiency. ( 24736194 )
2014
41
Skin necrosis complicated by warfarin-induced protein S deficiency. ( 25240306 )
2014
42
A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency. ( 25255242 )
2014
43
Multiple abdominal veins thrombosis secondary to protein s deficiency - a case report. ( 25121018 )
2014
44
Successful management of acute mesenteric ischaemia in a pregnant woman with protein s deficiency. ( 24652435 )
2014
45
Asymptomatic type B right atrial thrombus in a case with protein S deficiency. ( 24994736 )
2014
46
Central retinal vein occlusion as a presenting feature in a young patient with protein S deficiency. ( 25331213 )
2014
47
Intravenous recombinant tissue plasminogen activator therapy in a 14-week pregnant woman with embolic stroke due to protein S deficiency. ( 23524601 )
2013
48
Omental gangrene and porto-mesenteric thrombosis in a patient of protein C and protein s deficiency. ( 24426632 )
2013
49
Reversible diencephalic dysfunction as presentation of deep cerebral venous thrombosis due to hyperhomocysteinemia and protein S deficiency: Documentation of a case. ( 23914104 )
2013
50
Anticoagulant treatment with rivaroxaban in severe protein S deficiency. ( 24144709 )
2013

Variations for Protein S Deficiency

ClinVar genetic disease variations for Protein S Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PROS1 NM_000313.3(PROS1): c.773A> G (p.Asn258Ser) single nucleotide variant Pathogenic rs121918473 GRCh37 Chromosome 3, 93617368: 93617368
2 PROS1 NM_000313.3(PROS1): c.586A> G (p.Lys196Glu) single nucleotide variant Pathogenic rs121918474 GRCh37 Chromosome 3, 93624643: 93624643
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 GRCh37 Chromosome 3, 93593089: 93593089
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 GRCh37 Chromosome 3, 93617306: 93617306
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:

id 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)
id 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 9.67 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 signal peptide processing GO:0006465 9.51 F2 PROS1
7 regulation of complement activation GO:0030449 9.5 C4BPA F2 PROS1
8 blood coagulation, intrinsic pathway GO:0007597 9.48 APOH F2
9 positive regulation of blood coagulation GO:0030194 9.46 APOH F2
10 negative regulation of blood coagulation GO:0030195 9.43 APOH PROS1
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:

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.13 F2 F3 F5
2 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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