MCID: PRT011
MIFTS: 49

Protein C Deficiency

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Protein C Deficiency

MalaCards integrated aliases for Protein C Deficiency:

Name: Protein C Deficiency 12 72 50 24 25 52 42 14 69
Hereditary Thrombophilia Due to Protein C Deficiency 50 25
Hereditary Thrombophilia Due to Congenital Protein C Deficiency 50
Congenital Thrombotic Disease, Due to Protein C Deficiency 69
Hereditary Thrombophilia Due to Pc Deficiency 50
Proc Deficiency 25
Protein C 13

Classifications:



External Ids:

Disease Ontology 12 DOID:3756
ICD10 33 D68.59
MeSH 42 D020151
NCIt 47 C99025
SNOMED-CT 64 76407009
UMLS 69 C0398625

Summaries for Protein C Deficiency

NIH Rare Diseases : 50 protein c deficiency is a disorder that increases a person's risk to develop abnormal blood clots due to a deficiency of the protein c, a protein in the body that prevents blood clotting. it may be inherited or acquired. inherited deficiency of protein c can lead to familial thrombophilia (increased tendency toward thrombosis). it is caused by mutations in the proc gene, and in most cases is transmitted in an autosomal dominant way; a few people inherit an abnormal allele from both parents and may have a more severe disease (please see autosomal recessive protein c deficiency) because they have very low levels of active protein c. acquired protein c deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (dic), infection (sepsis), vitamin k deficiency, use of warfarin or certain types of chemotherapy. while most people with protein c deficiency do not have problems, some are at risk for a type of clot called deep vein thrombosis (dvt), which can travel through the bloodstream and become stuck in the lung, causing pulmonary embolism. also, abnormal bleeding can occur in various parts of the body causing purple patches on the skin. treatment depend on the symptoms severity. most people do not need any treatment. however, in situations of clot risk such as pregnancy, surgery or trauma, prevention treatment may be indicated. last updated: 6/7/2016

MalaCards based summary : Protein C Deficiency, also known as hereditary thrombophilia due to protein c deficiency, is related to thrombophilia due to activated protein c resistance and budd-chiari syndrome. An important gene associated with Protein C Deficiency is PROC (Protein C, Inactivator Of Coagulation Factors Va And VIIIa), 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 liver, lung and skin, and related phenotypes are cardiovascular system and liver/biliary system

Genetics Home Reference : 25 Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.

Wikipedia : 72 Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first... more...

Related Diseases for Protein C Deficiency

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

(show top 50) (show all 216)
id Related Disease Score Top Affiliating Genes
1 thrombophilia due to activated protein c resistance 30.9 F2 F5 F9 MTHFR SERPINC1 THBD
2 budd-chiari syndrome 30.7 F2 F5 MTHFR SERPINC1
3 ischemic heart disease 29.5 F2 SERPINC1
4 angina pectoris 29.1 F2 SERPINC1 THBD
5 priapism 28.4 F5 MTHFR SERPINC1 THBD
6 myocardial infarction 28.1 F2 F5 MTHFR SERPINC1 THBD
7 thrombophilia due to protein c deficiency, autosomal recessive 12.4
8 thrombophilia due to protein c deficiency, autosomal dominant 12.3
9 surfactant metabolism dysfunction, pulmonary, 2 11.2
10 sftpc-related pulmonary surfactant metabolism dysfunction 11.1
11 thrombophilia due to protein s deficiency, autosomal dominant 10.8
12 pulmonary fibrosis, idiopathic 10.8
13 variably protease-sensitive prionopathy 10.6 F2 F5
14 46,xy ovotesticular disorder of sex development 10.5 F2 F5
15 bile duct cystadenoma 10.5 F2 F5
16 stoll alembik finck syndrome 10.5 F5 SERPINC1
17 thrombosis 10.5
18 pyridoxine deficiency anemia 10.4 F2 SERPINC1
19 inherited blood coagulation disease 10.4 F2 F5
20 fragile x syndrome type 2 10.4 F2 SERPINC1
21 myiasis 10.4 F2 SERPINC1
22 egg allergy 10.4 F2 SERPINC1
23 rectum neuroendocrine neoplasm 10.4 F2 SERPINC1
24 irak4 deficiency 10.4 F2 F5
25 syndactyly, mesoaxial synostotic, with phalangeal reduction 10.4 F2 SERPINC1
26 midline cystocele 10.4 F2 SERPINC1
27 littre gland carcinoma 10.4 F2 SERPINC1
28 pilomyxoid astrocytoma 10.4 F2 SERPINC1
29 inferolateral myocardial infarct 10.4 F2 SERPINC1
30 acute lymphocytic leukemia 10.4 F2 F5
31 angelucci's syndrome 10.4 F2 SERPINC1
32 lujo hemorrhagic fever 10.4 F2 SERPINC1
33 moderately severe hemophilia b 10.4 F2 F5
34 myxomatous pattern testicular yolk sac tumor 10.4 F5 THBD
35 childhood brain stem glioma 10.3 F2 SERPINC1
36 coronary stenosis 10.3 SERPINC1 SFTPC
37 acquired von willebrand syndrome 10.3 F5 F9
38 hepadnavirus infection 10.3 F2 SERPINC1
39 acquired pure red cell aplasia 10.3 F5 F9
40 psychologic dyspareunia 10.2 F2 THBD
41 purpura 10.2
42 autonomic neuropathy 10.2 F2 F9
43 purpura fulminans 10.2
44 alcohol abuse 10.2 F2 SFTPC
45 fiedler's myocarditis 10.2 SERPINC1 THBD
46 lethal congenital contracture syndrome 10.2 F2 PROC SERPINC1
47 hyperphenylalaninemia 10.2 F2 F9
48 neuromyelitis optica 10.2 MTHFR PROC
49 xeroderma pigmentosum, group f 10.2 F9 SERPINC1
50 multicentric osteolysis nephropathy 10.2 F5 MTHFR

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



Diseases related to Protein C Deficiency

Symptoms & Phenotypes for Protein C Deficiency

MGI Mouse Phenotypes related to Protein C Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 F2 F5 F9 PROC SERPINC1 SFTPC
2 liver/biliary system MP:0005370 9.35 F5 F9 PROC SERPINC1 THBD
3 mortality/aging MP:0010768 9.23 SFTPC THBD F2 F5 F9 MTHFR

Drugs & Therapeutics for Protein C Deficiency

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

(show top 50) (show all 212)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4 9005-49-6
2
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
3
Copper Approved Phase 4 7440-50-8 27099
4
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
5
Iron Approved Phase 4 7439-89-6 23925
6
Selenium Approved, Vet_approved Phase 4 7782-49-2
7
Zinc Approved Phase 4 7440-66-6 32051 23994
8
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3 50-14-6 5280793
9
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
10
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
12
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
13
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
14
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
15
Pyridoxal Approved, Nutraceutical Phase 4 66-72-8 1050
16
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
17
Riboflavin Approved, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
18
Thiamine Approved, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
19 Tocopherol Approved, Nutraceutical Phase 4
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
21
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
23
Iodine Investigational Phase 4 7553-56-2 807
24 Anticoagulants Phase 4,Phase 2,Phase 3
25 calcium heparin Phase 4
26 Fibrinolytic Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Heparin, Low-Molecular-Weight Phase 4
28 Bone Density Conservation Agents Phase 4,Phase 3
29 Ergocalciferols Phase 4,Phase 3
30 Micronutrients Phase 4,Phase 3
31 Protective Agents Phase 4,Phase 2,Phase 1
32 Trace Elements Phase 4,Phase 3
33 Vitamins Phase 4,Phase 3
34 Antibodies Phase 4
35 Complement C1 Inactivator Proteins Phase 4,Phase 2,Phase 3
36 Complement C1 Inhibitor Protein Phase 4,Phase 2,Phase 3
37 Complement C1s Phase 4,Phase 2,Phase 3
38 Complement Inactivating Agents Phase 4,Phase 2,Phase 3
39 Complement System Proteins Phase 4,Phase 2,Phase 3
40 Immunoglobulins Phase 4
41 Immunosuppressive Agents Phase 4,Phase 2,Phase 3
42 Antimetabolites Phase 4
43 Antioxidants Phase 4
44 cadexomer iodine Phase 4
45 Dermatologic Agents Phase 4
46 Hematinics Phase 4
47 Hypolipidemic Agents Phase 4
48 Lipid Regulating Agents Phase 4
49 Nicotinic Acids Phase 4
50 Photosensitizing Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 90)

id Name Status NCT ID Phase Drugs
1 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4 Enoxaparin
2 Comparison of Meal Replacements Versus Protein Supplements and Utilizing the Protein Digestibility Corrected Amino Acid Score (PDCAAS) Method Unknown status NCT01399333 Phase 4
3 Postmarketing Immunogenicity Study in HAE Subjects Treated With Berinert Completed NCT01467947 Phase 4
4 Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso Completed NCT00909974 Phase 4
5 Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With IBD Recruiting NCT02774057 Phase 4 Captafer®;Iron Sulfate
6 Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin Deficiency Unknown status NCT01357460 Phase 2, Phase 3
7 Vitamin D3 Substitution in Vitamin D Deficient Kidney Transplant Recipients Unknown status NCT00752401 Phase 3 Cholecalciferol;Placebo
8 Efficacy and Safety Study of Protein C Concentrate in Subjects With Severe Congenital Protein C Deficiency Completed NCT00157118 Phase 2, Phase 3 Protein C Concentrate (Human) Vapor Heated
9 Efficacy and Safety of Drotrecogin Alfa (Activated) in Adult Patients With Septic Shock Completed NCT00604214 Phase 3 Drotrecogin alfa (activated);Placebo
10 A Study to Assess Safety and PK of Liquid Alpha₁-Proteinase Inhibitor (Human) in Treating Alpha₁-Antitrypsin Deficiency Completed NCT02282527 Phase 2, Phase 3
11 The Safety and Tolerability of Alpha-1 Modified Process (MP) In Subjects With Alpha-1-antitrypsin (AAT) Deficiency Completed NCT00301366 Phase 3 alpha-1 proteinase inhibitor (human)
12 Comparison of Pharmacokinetic, Safety, Tolerability of Alpha-1 MP and Prolastin In Alpha1-antitrypsin Deficient Adults Completed NCT00295061 Phase 3 Alpha-1 MP;alpha-1 proteinase inhibitor (human)
13 Phase II/III Study of an Alpha-1 Proteinase Inhibitor (Kamada-API) in Individuals With Alpha-1 Antitrypsin Deficiency Completed NCT00460096 Phase 2, Phase 3 Kamada-API
14 International Study Evaluating the Safety and Efficacy of Inhaled, Human, Alpha-1 Antitrypsin (AAT) in Alpha-1 Antitrypsin Deficient Patients With Emphysema Completed NCT01217671 Phase 2, Phase 3
15 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
16 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
17 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
18 Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin Deficiency Enrolling by invitation NCT02796937 Phase 3
19 Administration of Protein C Concentrates in Adult Critically Ill Septic Patients Terminated NCT01705808 Phase 3 Protein C concentrate
20 Safety and Efficacy of Inhaled Alpha-1 Antitrypsin in Preventing Bronchiolitis Obliterable Syndrome in Lung Transplant Recipients Unknown status NCT01394835 Phase 2 Alpha -1 Antitrypsin;Alpha-1 Antitrypsin;AAT
21 Evaluate Protein C Levels in Severe Sepsis Patients on Drotrecogin Alfa (Activated) Completed NCT00386425 Phase 2 Drotrecogin alfa (activated)
22 4-PBA: Will it Increase the Level of Alpha 1-Antitrypsin(AAT) in Persons With AAT Deficiency? Completed NCT00067756 Phase 2 4-PBA
23 Safety & Efficacy Study of rAAV1-CB-hAAT for Alpha-1 Antitrypsin Deficiency Completed NCT01054339 Phase 2 rAAV1-CB-hAAT
24 Safety Study of an Aerosolized, Recombinant Alpha 1-Antitrypsin in Subjects With Alpha 1-Antitrypsin Deficiency Completed NCT00161707 Phase 1, Phase 2 Aerosolized, Recombinant Alpha 1-Antitrypsin
25 Safety and Pharmacokinetics of Alpha-1 MP in Patients With Alpha1-Antitrypsin Deficiency Completed NCT02870309 Phase 1, Phase 2
26 Study of the Effect of Aerosolized, Recombinant Alpha 1-Antitrypsin on Epithelial Lining Fluid Analytes in Subjects With Alpha 1-Antitrypsin Deficiency Completed NCT00157092 Phase 1, Phase 2 Aerosolized, Recombinant Alpha 1-Antitrypsin
27 Safety and Pharmacokinetics of Alpha-1 Proteinase Inhibitor in Subjects With Alpha1-Antitrypsin Deficiency Completed NCT01213043 Phase 2
28 Alpha-1-Antitrypsin (AAT) To Treat Emphysema In AAT-Deficient Patients (EXACTLE) Completed NCT00263887 Phase 2 Alpha1-Proteinase Inhibitor (Human);Albumin (Human) 20%, United States Pharmacopeia (USP)
29 Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation. Completed NCT01669421 Phase 2 Alpha-1 Antitrypsin (human)
30 Nanoparticulate Versus Micronized Steroids Delivery for Transdermal Hormone Replacement Therapy Completed NCT02467673 Phase 2 Micronized estradiol + progesterone;Nanoparticulate estradiol + progesterone
31 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Completed NCT00851409 Phase 2 Recombinant Human C1 Inhibitor
32 Safety and Tolerability Trial of Inhaled Alpha1-Proteinase Inhibitor (Human), Hydrophobic Chromatography Process (Alpha-1 HC) in Subjects With Cystic Fibrosis Completed NCT01684410 Phase 2
33 Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency Recruiting NCT01379469 Phase 2 Drug-Carbamazepine (Tegretol XR);Carbamazepine (Tegretol XR) Placebo
34 Targeting Pulmonary Perfusion in Alpha-1 Antitrypsin Deficiency Recruiting NCT03008915 Phase 2 Aspirin;Placebo
35 Efficacy/Safety of HA Inhalation Solution for Hereditary Emphysema in Patients With Alpha-1 Antitrypsin Deficiency Recruiting NCT03114020 Phase 2 Hyaluronic Acid Inhalation Solution;Placebo Inhalation Solution
36 Study Evaluating the Efficacy and Safety of Three Formulations of Ultra-low Dose Estriol Vaginal Gel (0.005%, 0.002%, 0.0008% Estriol Vaginal Gel) for the Treatment of Vaginal Dryness in Postmenopausal Women With Vulvovaginal Atrophy Recruiting NCT02967510 Phase 2 Estriol;Placebo
37 A Study of an Investigational Drug, ALN-AAT, in Healthy Adult Subjects and Patients With ZZ Type Alpha-1 Antitrypsin Deficiency Liver Disease Active, not recruiting NCT02503683 Phase 1, Phase 2 ALN-AAT;Sterile Normal Saline (0.9% NaCl)
38 Study of Human Plasma-Derived Alpha1-Proteinase Inhibitor in Subjects With New-Onset Type 1 Diabetes Mellitus Active, not recruiting NCT02093221 Phase 2
39 A Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency Active, not recruiting NCT02476916 Phase 2 AG-348
40 Long-term Safety of Alpha1-Proteinase Inhibitor (Human) in Japanese Subjects With Alpha1 Antitrypsin Deficiency (GTI1401-OLE) Enrolling by invitation NCT02870348 Phase 1, Phase 2
41 Safety Dose Finding Study of ADVM-043 Gene Therapy to Treat Alpha-1 Antitrypsin (A1AT) Deficiency Not yet recruiting NCT02168686 Phase 1, Phase 2
42 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2 Triheptanoin
43 Safety, Tolerability and Effect of ARC-AAT Injection on Circulating and Intrahepatic Alpha-1 Antitrypsin Levels Withdrawn NCT02900183 Phase 2 ARC-AAT Injection
44 Pilot Study of alpha1-antitrypsin to Treat Neuromyelitis Optica Relapses Unknown status NCT02087813 Phase 1 Alpha1-antitrypsin;methylprednisolone
45 Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin (AAT) Deficiency Completed NCT00430768 Phase 1
46 A Phase 1 Study of ProMetic Plasminogen (Human) Intravenous in Adults and Children With Plasminogen Deficiency Completed NCT02312180 Phase 1
47 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1 Triheptanoin
48 A Study of 2 Different Regimens of Tetravalent Ad26.Mos4.HIV Prime Followed by Boost With Modified Vaccinia Ankara (MVA)-Mosaic OR Ad26.Mos4.HIV Plus a Combination of Mosaic and Clade C gp140 Protein in Human Immunodeficiency Virus (HIV) Type 1 Infected A Not yet recruiting NCT03307915 Phase 1 Placebo
49 A Study of ARC-AAT in Healthy Volunteer Subjects and Patients With Alpha-1 Antitrypsin Deficiency (AATD) Terminated NCT02363946 Phase 1 ARC-AAT Injection
50 Microbioma in Sputa From COPD With Alpha-1 Antitrypsin Deficiency Unknown status NCT02547532

Search NIH Clinical Center for Protein C Deficiency

Cochrane evidence based reviews: protein c deficiency

Genetic Tests for Protein C Deficiency

Genetic tests related to Protein C Deficiency:

id Genetic test Affiliating Genes
1 Protein C Deficiency 24 PROC

Anatomical Context for Protein C Deficiency

MalaCards organs/tissues related to Protein C Deficiency:

39
Liver, Lung, Skin, Testes, Bone, Kidney, Skeletal Muscle

Publications for Protein C Deficiency

Articles related to Protein C Deficiency:

(show top 50) (show all 547)
id Title Authors Year
1
Perioperative management of severe congenital protein C deficiency. ( 28737523 )
2017
2
Simultaneous Left Ventricular and Deep Vein Thrombi Caused by Protein C Deficiency. ( 28194181 )
2017
3
[Analysis of phenotypes and genetic mutations in two pedigrees affected with hereditary protein C deficiency]. ( 28186585 )
2017
4
Anticoagulation therapy for thromboembolism prevention: a case of warfarin-induced skin necrosis in the setting of protein C deficiency. ( 28500260 )
2017
5
The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene. ( 28111891 )
2017
6
A novel compound heterozygous form of severe protein C deficiency causing bleeding without purpura fulminans. ( 28485122 )
2017
7
Successful ABO-incompatible pediatric living donor liver transplantation in an infant with protein C deficiency. ( 28266768 )
2017
8
Early antithrombotic treatment with warfarin oral suspension in severe neonatal protein C deficiency. ( 28259509 )
2017
9
A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects. ( 28265398 )
2017
10
Early cirrhosis in a young female with protein C deficiency: An extremely unusual case report with review. ( 27510694 )
2016
11
Concurrent Factor V Leiden and Protein C Deficiency Presenting as Mesenteric Venous Thrombosis. ( 27097617 )
2016
12
Efficacy and safety of protein C concentrate to treat purpura fulminans and thromboembolic events in severe congenital protein C deficiency. ( 27052576 )
2016
13
A case of Protein C deficiency presenting as massive pulmonary thrombus and CC F. ( 27728303 )
2016
14
Protein S and protein C deficiency with multiple infarcts in a human immunodeficiency virus-infected female child. ( 27890956 )
2016
15
Renal Papillary Necrosis Caused by Protein C Deficiency Leading to Recurrent Hydronephrosis. ( 27579411 )
2016
16
Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes. ( 27517348 )
2016
17
Severe Congenital Protein C Deficiency: Practical Aspects of Management. ( 27138381 )
2016
18
Prenatal genetic testing for familial severe congenital protein C deficiency. ( 27081530 )
2015
19
Case of mesenteric ischaemia secondary to triple occlusive arterial disease in a patient with protein C deficiency and radiation-induced vascular insufficiency. ( 25649122 )
2015
20
Protein C Deficiency in Chronic Hepatitis C: Correlation With Histological Extent of Liver Fibrosis. ( 26008227 )
2015
21
Protein C deficiency related obscure gastrointestinal bleeding treated by enteroscopy and anticoagulant therapy. ( 25624741 )
2015
22
Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay. ( 25648792 )
2015
23
Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency. ( 25677123 )
2015
24
Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency. ( 26250584 )
2015
25
Successful living domino liver transplantation in a child with protein C deficiency. ( 25712501 )
2015
26
Portal vein thrombosis associated with protein C deficiency and elevated Factor VIII in hepatosplenic schistosomiasis. ( 26397884 )
2015
27
Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency. ( 25618265 )
2015
28
Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations. ( 25748729 )
2015
29
Purpura Fulminans Due to Acquired Protein C Deficiency. ( 26677306 )
2015
30
Neonatal purpura fulminans due to protein C deficiency. ( 25783192 )
2015
31
Molecular characterization of novel splice site mutation causing protein C deficiency. ( 26656900 )
2015
32
Cardiac left ventricular thrombus in protein C deficiency. ( 25114374 )
2014
33
Novel missense mutation C106R in the PROC gene associated with type I protein C deficiency in a young Polish man with high-risk pulmonary embolism. ( 24496376 )
2014
34
Combined crvo with crao in a patient with protein C deficiency. ( 25372333 )
2014
35
Protein C deficiency. ( 25332562 )
2014
36
The significance of F139V mutation on thrombotic events in compound heterozygous and homozygous protein C deficiency. ( 24911457 )
2014
37
Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study. ( 25533856 )
2014
38
Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress. ( 24648475 )
2014
39
Hereditary protein C deficiency caused by compound heterozygous mutants in two independent Chinese families. ( 25393254 )
2014
40
Childhood interstitial lung disease due to surfactant protein C deficiency: frequent use and costs of hospital services for a single case in Australia. ( 24642012 )
2014
41
Clinical and laboratory characteristics of children with venous thromboembolism and protein C-deficiency: an observational Israeli-German cohort study. ( 25039884 )
2014
42
Subcutaneous protein C concentrate in the management of severe protein C deficiency - experience from 12 centres. ( 24422725 )
2014
43
Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency. ( 24509341 )
2014
44
Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis. ( 24782131 )
2014
45
Hypercoagulability in a newborn with concomitant homozygous factor V Leiden and severe homozygous protein C deficiency type 1. ( 24056294 )
2013
46
HIV-Associated Thromboembolic Phenomenon due to Protein C Deficiency. ( 24162617 )
2013
47
Dysgenesis of the inferior vena cava associated with deep venous thrombosis and a partial Protein C deficiency. ( 24421930 )
2013
48
Is treatment with hydroxychloroquine effective in surfactant protein C deficiency? ( 23137777 )
2013
49
Protein-C deficiency presenting as pulmonary embolism and myocardial infarction in the same patient. ( 24228720 )
2013
50
A missense mutation G109R in the PROC gene associated with type I protein C deficiency in a young Polish man with acute myocardial infarction. ( 23643436 )
2013

Variations for Protein C Deficiency

Expression for Protein C Deficiency

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

Pathways for Protein C Deficiency

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 F2 F5 F9 HRG PROC SERPINC1
2
Show member pathways
12.35 F2 F5 F9 PROC SERPINC1 THBD
3
Show member pathways
11.83 F2 PROC THBD
4
Show member pathways
11.64 F2 F5 F9 PROC SERPINC1 THBD
5
Show member pathways
11.58 F2 F9 PROC
6 11.24 F2 F5 F9 PROC SERPINC1 THBD
7 10.61 F2 F9 PROC

GO Terms for Protein C Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 F2 F5 F9 HRG PROC SERPINC1
2 blood microparticle GO:0072562 9.5 F2 HRG SERPINC1
3 extracellular space GO:0005615 9.5 F2 F5 F9 PROC SERPINC1 SFTPC
4 Golgi lumen GO:0005796 9.43 F2 F9 PROC
5 endoplasmic reticulum lumen GO:0005788 9.02 F2 F5 F9 PROC SERPINC1

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.73 F2 F5 F9 PROC
2 cellular protein metabolic process GO:0044267 9.72 F2 F5 PROC SERPINC1 SFTPC
3 leukocyte migration GO:0050900 9.7 F2 PROC THBD
4 regulation of blood coagulation GO:0030193 9.58 F2 HRG SERPINC1
5 blood circulation GO:0008015 9.54 F5 MTHFR
6 signal peptide processing GO:0006465 9.54 F2 F9 PROC
7 fibrinolysis GO:0042730 9.51 F2 HRG
8 blood coagulation GO:0007596 9.5 F2 F5 F9 HRG PROC SERPINC1
9 blood coagulation, intrinsic pathway GO:0007597 9.49 F2 F9
10 negative regulation of blood coagulation GO:0030195 9.48 PROC THBD
11 negative regulation of platelet activation GO:0010544 9.46 F2 THBD
12 peptidyl-glutamic acid carboxylation GO:0017187 9.43 F2 F9 PROC
13 negative regulation of fibrinolysis GO:0051918 9.33 F2 HRG THBD
14 hemostasis GO:0007599 9.17 F2 F5 F9 HRG PROC SERPINC1

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.46 F2 F9 PROC THBD
2 serine-type endopeptidase activity GO:0004252 9.43 F2 F9 PROC
3 heparin binding GO:0008201 9.13 F2 HRG SERPINC1
4 serine-type peptidase activity GO:0008236 8.8 F2 F9 PROC

Sources for Protein C 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....