MCID: PRT011
MIFTS: 52

Protein C Deficiency malady

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Protein C Deficiency

Aliases & Descriptions for Protein C Deficiency:

Name: Protein C Deficiency 12 71 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 skin, liver and lung, and related phenotypes are cardiovascular system and embryo

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 : 71 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 212)
id Related Disease Score Top Affiliating Genes
1 thrombophilia due to activated protein c resistance 33.3 F2 F5 MTHFR SERPINC1
2 budd-chiari syndrome 31.1 F2 F5 MTHFR SERPINC1 THBD
3 influenza 29.5 F2 SERPINC1
4 myocardial infarction 29.3 F2 F5 MTHFR SERPINC1 THBD
5 myotonic dystrophy 29.2 F2 F5 F9
6 thrombophilia due to protein c deficiency, autosomal recessive 12.4
7 thrombophilia due to protein c deficiency, autosomal dominant 12.3
8 surfactant metabolism dysfunction, pulmonary, 2 11.2
9 sftpc-related pulmonary surfactant metabolism dysfunction 11.1
10 thrombophilia due to protein s deficiency, autosomal dominant 10.8
11 pulmonary fibrosis, idiopathic 10.8
12 thrombosis 10.5
13 congenital insensitivity to pain with severe intellectual disability 10.2 F2 F5
14 oxyphilic adenoma 10.2 F2 F5
15 hendra virus infection 10.2 F2 F5
16 stt3a-cdg and stt3b-cdg 10.2 F5 SERPINC1
17 stroke, ischemic 10.2 F2 F5
18 purpura 10.2
19 purpura fulminans 10.2
20 miller-dieker lissencephaly syndrome 10.2 F2 SERPINC1
21 freiberg's disease 10.2 F2 SERPINC1
22 chorioretinal scar 10.2 F2 SERPINC1
23 mixed hepatoblastoma 10.2 F2 SERPINC1
24 peanut allergy 10.2 F2 SERPINC1
25 may-hegglin anomaly 10.2 F2 SERPINC1
26 midline cystocele 10.2 F2 SERPINC1
27 schwannoma of jugular foramen 10.2 F2 SERPINC1
28 conjunctivochalasis 10.2 SERPINC1 SFTPC
29 cerebellar astrocytoma 10.2 F2 SERPINC1
30 periosteal chondrosarcoma 10.2 F2 SERPINC1
31 acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia 10.1 F5 F9
32 angelucci's syndrome 10.1 F2 SERPINC1
33 acrodysplasia scoliosis 10.1 F5 F9
34 bladder hepatoid adenocarcinoma 10.1 F5 THBD
35 ovarian papillary cystadenoma 10.1 F2 SERPINC1
36 epstein-barr virus hepatitis 10.1 F2 SERPINC1
37 invasive pneumococcal disease, recurrent isolated, 1 10.1 F2 F5
38 cerebritis 10.1
39 pulpitis 10.1 F2 THBD
40 autonomic neuropathy 10.1 F2 F9
41 hereditary alpha tryptasemia syndrome 10.1 F2 SERPINC1
42 low anorectal malformation 10.1 F2 F5
43 dmd-related dilated cardiomyopathy 10.1 F2 PROC SERPINC1
44 multiple familial trichoepithelioma 10.1 F5 MTHFR
45 pancreatic ductal carcinoma 10.1 F2 F5 SERPINC1
46 neutropenia 10.1 MTHFR PROC
47 lymphocytic colitis 10.1 F2 F5 SERPINC1
48 neuroaxonal dystrophy 10.1 F2 F5 SERPINC1
49 absence of innominate vein 10.1 F5 MTHFR
50 intestinal disaccharidase deficiency 10.1 F2 F5 SERPINC1

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 9.8 F2 F5 F9 PROC SERPINC1 SFTPC
2 embryo MP:0005380 9.55 F2 F5 F9 SERPINC1 THBD
3 liver/biliary system MP:0005370 9.35 F5 F9 PROC SERPINC1 THBD
4 mortality/aging MP:0010768 9.23 THBD F2 F5 F9 MTHFR PROC

Drugs & Therapeutics for Protein C Deficiency

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

(show top 50) (show all 557)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4 9041-08-1
2
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
3
Copper Approved Phase 4,Phase 2 15158-11-9, 7440-50-8 27099
4
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7439-89-6 23925
5
Zinc Approved Phase 4,Phase 3,Phase 2,Early Phase 1 7440-66-6 32051 23994
6
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2 147127-20-6 464205
7
Efavirenz Approved, Investigational Phase 4,Phase 2,Phase 3 154598-52-4 64139
8
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 134678-17-4 60825
9
Hydroxocobalamin Approved Phase 4,Phase 2 13422-51-0 11953898 5460373 44475014
10
Selenium Approved, Vet_approved Phase 4 7782-49-2
11
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2 143491-57-0 60877
12
Peginterferon alfa-2b Approved Phase 4,Phase 2 99210-65-8, 215647-85-1
13
Maraviroc Approved, Investigational Phase 4,Phase 3,Phase 2 376348-65-1 3002977
14
Abacavir Approved, Investigational Phase 4,Phase 3,Phase 2 136470-78-5 65140 441300
15
Amprenavir Approved Phase 4,Phase 2,Phase 3 161814-49-9 65016
16
Didanosine Approved Phase 4,Phase 1 69655-05-6 50599
17
Enfuvirtide Approved, Investigational Phase 4,Phase 3,Phase 2 159519-65-0 16130199
18
Indinavir Approved Phase 4 150378-17-9 5362440
19
Nelfinavir Approved Phase 4,Phase 2,Phase 3 159989-64-7 64143
20
Nevirapine Approved Phase 4,Phase 2,Phase 3,Early Phase 1 129618-40-2 4463
21
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 155213-67-5 392622
22
Saquinavir Approved, Investigational Phase 4,Phase 2,Phase 3 127779-20-8 60787
23
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
24
Tipranavir Approved, Investigational Phase 4,Phase 3,Phase 2 174484-41-4 65027
25
Zidovudine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 30516-87-1 35370
26
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
27 Dolutegravir Approved Phase 4,Phase 3,Phase 1 1051375-16-6 54726191
28
Amikacin Approved, Vet_approved Phase 4 37517-28-5 37768
29
Aminosalicylic Acid Approved Phase 4 65-49-6 4649
30
Capreomycin Approved Phase 4 11003-38-6 3000502
31
Clofazimine Approved, Investigational Phase 4 2030-63-9 2794
32
Cycloserine Approved Phase 4 68-41-7 401 6234
33
Darunavir Approved Phase 4,Phase 3,Phase 2 635728-49-3, 206361-99-1 213039
34
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Early Phase 1 50-28-2 5757 53477783
35
Ethambutol Approved Phase 4,Phase 2 74-55-5 3279 14052
36
Ethionamide Approved Phase 4 536-33-4 2761171
37
Etravirine Approved Phase 4,Phase 3,Phase 2 269055-15-4 193962
38
Isoniazid Approved Phase 4,Phase 3 54-85-3 3767
39
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
40
Lopinavir Approved Phase 4,Phase 3,Phase 2,Early Phase 1 192725-17-0 92727
41
Ofloxacin Approved Phase 4 82419-36-1 4583
42
Pyrazinamide Approved Phase 4 98-96-4 1046
43
Rifampin Approved Phase 4,Phase 2 13292-46-1 5458213 5381226
44
Glycerol Approved, Experimental Phase 4,Phase 2 56-81-5 753
45
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 1 616-91-1 12035
46
Nitric Oxide Approved Phase 4 10102-43-9 145068
47
Liraglutide Approved Phase 4 204656-20-2
48
Bedaquiline Approved Phase 4 843663-66-1
49
Cobicistat Approved Phase 4,Phase 3 1004316-88-4
50
Desogestrel Approved Phase 4 54024-22-5 40973

Interventional clinical trials:

(show top 50) (show all 380)
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 Comparison of Meal Replacements Versus Protein Supplements and Utilizing the Protein Digestibility Corrected Amino Acid Score (PDCAAS) Method Unknown status NCT01399333 Phase 4
3 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4
4 Vitamin D and Inflammatory Markers of Cardiovascular Disease in African Americans With Type 2 Diabetes Unknown status NCT01153243 Phase 4
5 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
6 Value Antiproteinuric Effects From Vitamin D Derivatives in Patient With Chronic Kidney Illness and the Lack of Vitamin D Unknown status NCT01442272 Phase 4
7 Retrospective Study to Capture Dosing and Treatment Outcome Data in Subjects With Severe Congenital Protein C Deficiency Who Were Treated With Protein C Concentrate Under an Emergency Use IND Completed NCT00161720 Phase 4
8 Postmarketing Immunogenicity Study in HAE Subjects Treated With Berinert Completed NCT01467947 Phase 4
9 Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso Completed NCT00909974 Phase 4
10 Ferumoxytol for Iron-Deficiency Anemia in Chronic Kidney Disease and Peritoneal Dialysis Patients Completed NCT01942460 Phase 4
11 Interferon Alfa Sensitivity in HIV/HCV Persons Before and After HIV Meds Completed NCT01285050 Phase 4
12 Maraviroc in Immunological Non-Responder (INR) HIV-1-infected Subjects Completed NCT00884858 Phase 4
13 HIV Infection And Metabolic Abnormalities Protocol 1 (HAMA001) Completed NCT00192660 Phase 4
14 Switching Undetectables to Selzentry Completed NCT01866267 Phase 4
15 A Study to Evaluate of the Efficacy of Enfuvirtide During the Induction Phase of Therapy Completed NCT00344760 Phase 4
16 WAND Study - A Study to Evaluate Fuzeon (Enfuvirtide) Administered by a Needle-Free Injection Device in Patients With HIV. Completed NCT00233883 Phase 4
17 KIVEXA Vs TRUVADA, Both Administered With Efavirenz, In ART-Naive Subjects Completed NCT00549198 Phase 4
18 Safety and Efficacy Study of Switching From Epzicom to Truvada Completed NCT00724711 Phase 4
19 TOTEM: Switch From Other Nucleoside Reverse Transcriptase Inhibitors (NRTIs) to Once Daily Truvada Completed NCT00323492 Phase 4
20 Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With IBD Recruiting NCT02774057 Phase 4
21 The Effects of Vitamin D Supplementation on Patients With Type 2 Diabetes and Vitamin D Deficiency Recruiting NCT01991054 Phase 4
22 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Recruiting NCT00555555 Phase 4
23 Integrase and Maraviroc Intensification for Neurocognitive Dysfunction (InMIND) Recruiting NCT02519777 Phase 4
24 Liraglutide for HIV-associated Neurocognitive Disorder Recruiting NCT02743598 Phase 4
25 Pharmacokinetic Study of Antiretroviral Drugs and Related Drugs During and After Pregnancy Recruiting NCT00042289 Phase 4
26 Effects of Cholecalciferol on Osteoprotegerin Levels in Patients on Peritoneal Dialysis Active, not recruiting NCT02598635 Phase 4
27 Cholecalciferol Supplementation for Anemia and Mineral and Bone Disorder in Hemodialysis Patients Active, not recruiting NCT02214563 Phase 4
28 Elvitegravir/Cobicistat/Tenofovir DF/Emtricitabine With Darunavir Treatment Simplification Strategy Active, not recruiting NCT02199613 Phase 4
29 Effect of Ergocalciferol on Iron Metabolism in Individuals With Chronic Kidney Disease Not yet recruiting NCT03073369 Phase 4
30 Pilot Study of Bydureon to Treat Diabetes in HIV-infected Adults Terminated NCT01791465 Phase 4
31 N-Acetylcysteine and Arginine Administration in Diabetic Patients Terminated NCT00569465 Phase 4
32 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4
33 Trial of High Dose Vitamin D in Patient's With Crohn's Disease Terminated NCT02208310 Phase 4
34 Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin Deficiency Unknown status NCT01357460 Phase 2, Phase 3
35 Vitamin D3 Substitution in Vitamin D Deficient Kidney Transplant Recipients Unknown status NCT00752401 Phase 3
36 Efficacy and Safety Study of Protein C Concentrate in Subjects With Severe Congenital Protein C Deficiency Completed NCT00157118 Phase 2, Phase 3
37 Efficacy and Safety of Drotrecogin Alfa (Activated) in Adult Patients With Septic Shock Completed NCT00604214 Phase 3
38 A Study to Assess Safety and PK of Liquid Alpha₁-Proteinase Inhibitor (Human) in Treating Alpha₁-Antitrypsin Deficiency Completed NCT02282527 Phase 2, Phase 3
39 The Safety and Tolerability of Alpha-1 Modified Process (MP) In Subjects With Alpha-1-antitrypsin (AAT) Deficiency Completed NCT00301366 Phase 3
40 Comparison of Pharmacokinetic, Safety, Tolerability of Alpha-1 MP and Prolastin In Alpha1-antitrypsin Deficient Adults Completed NCT00295061 Phase 3
41 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
42 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
43 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
44 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3
45 Vitamin B6 Effects for Women Taking Birth Control Pills Completed NCT01128244 Phase 2, Phase 3
46 Safety and Immunogenicity of Novartis Meningococcal B Vaccine When Administered to Immunocompromised Children and Adolescents Compared to Healthy Subjects. Completed NCT02141516 Phase 3
47 Efficacy and Mechanisms of GLN Dipeptide in the SICU Completed NCT00248638 Phase 3
48 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3
49 A Study Investigating Treatment Factor X in People With Factor X Deficiency Completed NCT00930176 Phase 3
50 Effect of Vitamin D Supplementation on Exercise Adaptations in Patients on Statin Therapy Completed NCT02030041 Phase 3

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
Skin, Liver, Lung, Testes, Myeloid, Breast, Brain

Publications for Protein C Deficiency

Articles related to Protein C Deficiency:

(show top 50) (show all 539)
id Title Authors Year
1
Renal Papillary Necrosis Caused by Protein C Deficiency Leading to Recurrent Hydronephrosis. ( 27579411 )
2016
2
Early cirrhosis in a young female with protein C deficiency: An extremely unusual case report with review. ( 27510694 )
2016
3
A case of Protein C deficiency presenting as massive pulmonary thrombus and CC F. ( 27728303 )
2016
4
Concurrent Factor V Leiden and Protein C Deficiency Presenting as Mesenteric Venous Thrombosis. ( 27097617 )
2016
5
Protein S and protein C deficiency with multiple infarcts in a human immunodeficiency virus-infected female child. ( 27890956 )
2016
6
Efficacy and safety of protein C concentrate to treat purpura fulminans and thromboembolic events in severe congenital protein C deficiency. ( 27052576 )
2016
7
Severe Congenital Protein C Deficiency: Practical Aspects of Management. ( 27138381 )
2016
8
Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes. ( 27517348 )
2016
9
Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay. ( 25648792 )
2015
10
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
11
Case of mesenteric ischaemia secondary to triple occlusive arterial disease in a patient with protein C deficiency and radiation-induced vascular insufficiency. ( 25649122 )
2015
12
Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency. ( 25618265 )
2015
13
Protein C Deficiency in Chronic Hepatitis C: Correlation With Histological Extent of Liver Fibrosis. ( 26008227 )
2015
14
Neonatal purpura fulminans due to protein C deficiency. ( 25783192 )
2015
15
Prenatal genetic testing for familial severe congenital protein C deficiency. ( 27081530 )
2015
16
Portal vein thrombosis associated with protein C deficiency and elevated Factor VIII in hepatosplenic schistosomiasis. ( 26397884 )
2015
17
Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency. ( 26250584 )
2015
18
Successful living domino liver transplantation in a child with protein C deficiency. ( 25712501 )
2015
19
Molecular characterization of novel splice site mutation causing protein C deficiency. ( 26656900 )
2015
20
Purpura Fulminans Due to Acquired Protein C Deficiency. ( 26677306 )
2015
21
Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency. ( 25677123 )
2015
22
Protein C deficiency related obscure gastrointestinal bleeding treated by enteroscopy and anticoagulant therapy. ( 25624741 )
2015
23
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
24
Cardiac left ventricular thrombus in protein C deficiency. ( 25114374 )
2014
25
Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress. ( 24648475 )
2014
26
Combined crvo with crao in a patient with protein C deficiency. ( 25372333 )
2014
27
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
28
Subcutaneous protein C concentrate in the management of severe protein C deficiency - experience from 12 centres. ( 24422725 )
2014
29
Protein C deficiency. ( 25332562 )
2014
30
The significance of F139V mutation on thrombotic events in compound heterozygous and homozygous protein C deficiency. ( 24911457 )
2014
31
Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study. ( 25533856 )
2014
32
Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency. ( 24509341 )
2014
33
Clinical and laboratory characteristics of children with venous thromboembolism and protein C-deficiency: an observational Israeli-German cohort study. ( 25039884 )
2014
34
Hereditary protein C deficiency caused by compound heterozygous mutants in two independent Chinese families. ( 25393254 )
2014
35
Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis. ( 24782131 )
2014
36
Protein C deficiency as the major cause of thrombophilias in childhood. ( 23521084 )
2013
37
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
38
HIV-Associated Thromboembolic Phenomenon due to Protein C Deficiency. ( 24162617 )
2013
39
A Case Report of Pulmonary Thromboendarterectomy for Chronic Thromboembolism in a Patient with Protein C Deficiency. ( 23903711 )
2013
40
Severe fetal ischaemic brain injury caused by homozygous protein C deficiency. ( 24122877 )
2013
41
Paediatric presentation and outcome of congenital protein C deficiency in Japan. ( 23379934 )
2013
42
Hypercoagulability in a newborn with concomitant homozygous factor V Leiden and severe homozygous protein C deficiency type 1. ( 24056294 )
2013
43
Protein-C deficiency presenting as pulmonary embolism and myocardial infarction in the same patient. ( 24228720 )
2013
44
Long-term Follow-up of Homozygote Protein C Deficiency After Multimodal Therapy. ( 24136027 )
2013
45
Dysgenesis of the inferior vena cava associated with deep venous thrombosis and a partial Protein C deficiency. ( 24421930 )
2013
46
Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report. ( 24319861 )
2013
47
Novel causative and neutral mutations in a patient with protein C deficiency. ( 23399439 )
2013
48
Unexpectedly Resolved Multiple Mobile Thrombi in a Normal Thoracic Aorta Associated With Colorectal Cancer and Protein C Deficiency. ( 23627996 )
2013
49
Adult-onset arterial thrombosis in a pedigree of homozygous and heterozygous protein C deficiency. ( 23174622 )
2013
50
Is treatment with hydroxychloroquine effective in surfactant protein C deficiency? ( 23137777 )
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 16)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.85 F2 F5 F9 PROC
2 ER to Golgi vesicle-mediated transport GO:0006888 9.73 F2 F5 F9 PROC
3 cellular protein metabolic process GO:0044267 9.72 F2 F5 PROC SERPINC1 SFTPC
4 leukocyte migration GO:0050900 9.71 F2 PROC THBD
5 platelet activation GO:0030168 9.65 F2 F5 HRG
6 regulation of blood coagulation GO:0030193 9.58 F2 HRG SERPINC1
7 blood circulation GO:0008015 9.56 F5 MTHFR
8 signal peptide processing GO:0006465 9.54 F2 F9 PROC
9 fibrinolysis GO:0042730 9.52 F2 HRG
10 blood coagulation, intrinsic pathway GO:0007597 9.51 F2 F9
11 blood coagulation GO:0007596 9.5 F2 F5 F9 HRG PROC SERPINC1
12 negative regulation of blood coagulation GO:0030195 9.49 PROC THBD
13 negative regulation of platelet activation GO:0010544 9.46 F2 THBD
14 peptidyl-glutamic acid carboxylation GO:0017187 9.43 F2 F9 PROC
15 negative regulation of fibrinolysis GO:0051918 9.33 F2 HRG THBD
16 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 9.56 F2 F9 PROC THBD
2 heparin binding GO:0008201 9.33 F2 HRG SERPINC1
3 serine-type peptidase activity GO:0008236 9.13 F2 F9 PROC
4 serine-type endopeptidase activity GO:0004252 8.92 F2 F5 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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