MCID: PRT011
MIFTS: 49

Protein C Deficiency

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Protein C Deficiency

MalaCards integrated aliases for Protein C Deficiency:

Name: Protein C Deficiency 12 77 54 26 56 45 15 17 74
Hereditary Thrombophilia Due to Protein C Deficiency 54 26
Autosomal Recessive Thrombophilia Due to Congenital Protein C Deficiency 54
Severe Hereditary Thrombophilia Due to Congenital Protein C Deficiency 54
Hereditary Thrombophilia Due to Congenital Protein C Deficiency 54
Congenital Thrombotic Disease, Due to Protein C Deficiency 74
Autosomal Recessive Thrombophilia Due to Pc Deficiency 54
Hereditary Thrombophilia Due to Pc Deficiency 54
Proc Deficiency 26
Protein C 13

Classifications:



External Ids:

Disease Ontology 12 DOID:3756
MeSH 45 D020151
NCIt 51 C99025
SNOMED-CT 69 76407009
ICD10 34 D68.59

Summaries for Protein C Deficiency

NIH Rare Diseases : 54 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.

MalaCards based summary : Protein C Deficiency, also known as hereditary thrombophilia due to protein c deficiency, is related to budd-chiari syndrome and purpura fulminans. 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 Protein C and Anticoagulants have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and t cells, and related phenotypes are cardiovascular system and homeostasis/metabolism

Genetics Home Reference : 26 Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.

Wikipedia : 77 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 438)
# Related Disease Score Top Affiliating Genes
1 budd-chiari syndrome 31.5 F2 F5 MTHFR SERPINC1
2 purpura fulminans 30.7 F2 PROC SERPINC1
3 acute respiratory distress syndrome 30.4 F5 SFTPC
4 purpura 30.2 F2 PROC SERPINC1 THBD
5 factor viii deficiency 30.0 F2 F5
6 hemophilia 29.9 F2 F9
7 afibrinogenemia 29.9 F2 F5
8 endocarditis 29.8 F2 SERPINC1
9 hemophilia a 29.8 F5 F9
10 cerebral sinovenous thrombosis 29.8 F2 F5
11 afibrinogenemia, congenital 29.7 F2 SERPINC1
12 legg-calve-perthes disease 29.7 F5 SERPINC1 THBD
13 sagittal sinus thrombosis 29.7 F2 F5 SERPINC1
14 acute liver failure 29.7 F2 F5
15 peripheral vascular disease 29.6 F2 SERPINC1 THBD
16 severe pre-eclampsia 29.6 F5 SERPINC1
17 spotted fever 29.5 F2 THBD
18 neonatal stroke 29.5 MTHFR PROC
19 sticky platelet syndrome 29.5 F5 SERPINC1
20 amaurosis fugax 29.5 F5 MTHFR
21 hepatic veno-occlusive disease 29.5 SERPINC1 THBD
22 ischemic colitis 29.4 F2 F5 SERPINC1
23 thrombocytosis 29.4 F2 SERPINC1
24 korean hemorrhagic fever 29.4 F2 SERPINC1
25 factor v deficiency 29.4 F2 F5 F9
26 carotid artery occlusion 29.4 F5 THBD
27 acquired hemophilia 29.4 F5 F9
28 acquired hemophilia a 29.4 F5 F9
29 portal vein thrombosis 29.3 F2 F5 MTHFR SERPINC1
30 thrombophilia due to thrombin defect 29.3 F2 F5 MTHFR PROC SERPINC1 THBD
31 cerebrovascular disease 29.3 F2 F5 MTHFR
32 thrombophlebitis 29.3 F2 F5 MTHFR SERPINC1
33 meningococcemia 29.1 F5 PROC SERPINC1 THBD
34 intracranial thrombosis 29.1 F5 MTHFR SERPINC1
35 myocardial infarction 29.1 F2 F5 MTHFR SERPINC1 THBD
36 livedoid vasculitis 29.1 F2 MTHFR SERPINC1
37 dysfibrinogenemia 29.1 F2 F5 SERPINC1 THBD
38 osteonecrosis 29.0 F2 MTHFR SERPINC1
39 von willebrand's disease 29.0 F2 F5 F9
40 sickle cell anemia 29.0 F2 MTHFR
41 central retinal vein occlusion 29.0 F2 F5 MTHFR SERPINC1
42 protein s deficiency 29.0 F2 F5 MTHFR SERPINC1
43 homocysteinemia 29.0 F2 F5 MTHFR SERPINC1
44 retinal vascular occlusion 29.0 F2 F5 MTHFR SERPINC1
45 stroke, ischemic 28.9 F2 F5 MTHFR SERPINC1 THBD
46 disseminated intravascular coagulation 28.9 F2 F5 F9 SERPINC1 THBD
47 cerebral palsy 28.9 F2 F5 MTHFR
48 placenta disease 28.8 F5 MTHFR SERPINC1
49 antithrombin iii deficiency 28.8 F2 F5 MTHFR SERPINC1
50 retinal vein occlusion 28.8 F2 F5 MTHFR 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 F2 F5 F9 PROC SERPINC1 SFTPC
2 homeostasis/metabolism MP:0005376 9.7 F2 F5 F9 MTHFR PROC SERPINC1
3 embryo MP:0005380 9.65 F2 F5 F9 SERPINC1 THBD
4 liver/biliary system MP:0005370 9.43 F5 F9 MTHFR PROC SERPINC1 THBD
5 mortality/aging MP:0010768 9.23 F2 F5 F9 MTHFR PROC SERPINC1

Drugs & Therapeutics for Protein C Deficiency

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Protein C Approved Phase 2, Phase 3,Phase 3
2 Anticoagulants Phase 2, Phase 3,Phase 3
3 Fibrinolytic Agents Phase 2, Phase 3,Phase 3
4 Anti-Infective Agents Phase 3,Phase 2
5 Drotrecogin alfa activated Phase 3,Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Efficacy and Safety of Drotrecogin Alfa (Activated) in Adult Patients With Septic Shock Completed NCT00604214 Phase 3 Drotrecogin alfa (activated);Placebo
3 Administration of Protein C Concentrates in Adult Critically Ill Septic Patients Terminated NCT01705808 Phase 3 Protein C concentrate
4 Evaluate Protein C Levels in Severe Sepsis Patients on Drotrecogin Alfa (Activated) Completed NCT00386425 Phase 2 Drotrecogin alfa (activated)
5 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 Protein C Concentrate (Human) Vapor Heated
6 Ceprotin Treatment Registry Completed NCT01127529

Search NIH Clinical Center for Protein C Deficiency

Cochrane evidence based reviews: protein c deficiency

Genetic Tests for Protein C Deficiency

Anatomical Context for Protein C Deficiency

MalaCards organs/tissues related to Protein C Deficiency:

42
Skin, Heart, T Cells, Brain, Prostate, Bone, Myeloid

Publications for Protein C Deficiency

Articles related to Protein C Deficiency:

(show top 50) (show all 583)
# Title Authors Year
1
Qualitative protein C deficiency due to PROC c.577_579delAAG mutation not detected by chromogenic assays: A case of intractable cerebral sinovenous thrombosis. ( 30255615 )
2019
2
Postpartum spontaneous renal blood vessel rupture followed by pulmonary artery thromboembolism associated with protein C deficiency. ( 29884108 )
2019
3
Diagnostic challenge of the newborn patients with heritable protein C deficiency. ( 30353081 )
2019
4
Protein C Deficiency. ( 30702334 )
2019
5
Management of severe congenital protein C deficiency with a direct oral anticoagulant, edoxaban: A case report. ( 30835920 )
2019
6
A Study of Congenital Protein C Deficiency With Infancy Onset of CADASIL in a Chinese Baby. ( 30883460 )
2019
7
Significance of a Family-based Study of Hereditary Thrombosis: A Single-family Case Series of Protein C Deficiency. ( 30918183 )
2019
8
Hemostatic assessment of combined anticoagulant therapy using warfarin and prothrombin complex concentrates in a case of severe protein C deficiency. ( 30963470 )
2019
9
Aortic Mural Thrombus Associated with Congenital Protein C Deficiency in an Elderly Patient. ( 31092765 )
2019
10
The relationship between the levels and function of endothelial progenitor cells and factor V Leiden and protein C deficiency in patients with primary Budd-Chiari syndrome. ( 29771426 )
2018
11
Recurrent diffuse lung disease due to surfactant protein C deficiency. ( 30094155 )
2018
12
Protein C deficiency (a novel mutation: ala291Thr) with systemic lupus erythematosus leads to the deep vein thrombosis. ( 30439769 )
2018
13
Protein C Deficiency Causing Recurrent Myocardial Infarction in a Young Male. ( 30141461 )
2018
14
Acute Anorectal Thrombophlebitis Caused by a Protein C Deficiency. ( 29033437 )
2018
15
Successful liver transplantation for homozygous protein C deficiency with a type II mutation using a heterozygous living related donor. ( 29218739 )
2018
16
Purpura fulminans in congenital protein C deficiency successfully treated with fresh frozen plasma and thrombomodulin. ( 29265490 )
2018
17
Homozygous protein C deficiency presenting as neonatal purpura fulminans: management with fresh frozen plasma, low molecular weight heparin and protein C concentrate. ( 29270858 )
2018
18
Rivaroxaban dose adjustment using thrombin generation in severe congenital protein C deficiency and warfarin-induced skin necrosis. ( 29365322 )
2018
19
Neonatal Purpura Fulminans, a rare genetic disorder due to protein C deficiency: A case report. ( 29540887 )
2018
20
In-stent thrombosis after carotid artery stenting in a patient with protein C deficiency. ( 30145678 )
2018
21
Recurrent cerebellar infarction associated with hereditary heterozygous protein C deficiency in a 35-year-old woman: A case report and genetic study on the pedigree. ( 30210609 )
2018
22
Case of mesenteric ischaemia secondary to triple occlusive arterial disease in a patient with protein C deficiency and radiation-induced vascular insufficiency. ( 25649122 )
2017
23
Protein C Deficiency in Chronic Hepatitis C: Correlation With Histological Extent of Liver Fibrosis. ( 26008227 )
2017
24
The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene. ( 28111891 )
2017
25
Simultaneous Left Ventricular and Deep Vein Thrombi Caused by Protein C Deficiency. ( 28194181 )
2017
26
Early antithrombotic treatment with warfarin oral suspension in severe neonatal protein C deficiency. ( 28259509 )
2017
27
A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects. ( 28265398 )
2017
28
Successful ABO-incompatible pediatric living donor liver transplantation in an infant with protein C deficiency. ( 28266768 )
2017
29
A novel compound heterozygous form of severe protein C deficiency causing bleeding without purpura fulminans. ( 28485122 )
2017
30
Anticoagulation therapy for thromboembolism prevention: a case of warfarin-induced skin necrosis in the setting of protein C deficiency. ( 28500260 )
2017
31
Perioperative management of severe congenital protein C deficiency. ( 28737523 )
2017
32
Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans. ( 29082047 )
2017
33
Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism. ( 29349439 )
2017
34
[Analysis of phenotypes and genetic mutations in two pedigrees affected with hereditary protein C deficiency]. ( 28186585 )
2017
35
Budd-Chiari Syndrome Due to Protein C Deficiency: A Rare Disorder to cause Chronic Liver Disease. ( 29201759 )
2016
36
Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency. ( 26250584 )
2016
37
Renal Papillary Necrosis Caused by Protein C Deficiency Leading to Recurrent Hydronephrosis. ( 27579411 )
2016
38
Portal vein thrombosis associated with protein C deficiency and elevated Factor VIII in hepatosplenic schistosomiasis. ( 26397884 )
2016
39
Molecular characterization of novel splice site mutation causing protein C deficiency. ( 26656900 )
2016
40
Efficacy and safety of protein C concentrate to treat purpura fulminans and thromboembolic events in severe congenital protein C deficiency. ( 27052576 )
2016
41
Concurrent Factor V Leiden and Protein C Deficiency Presenting as Mesenteric Venous Thrombosis. ( 27097617 )
2016
42
Severe Congenital Protein C Deficiency: Practical Aspects of Management. ( 27138381 )
2016
43
Early cirrhosis in a young female with protein C deficiency: An extremely unusual case report with review. ( 27510694 )
2016
44
Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes. ( 27517348 )
2016
45
Protein S and protein C deficiency with multiple infarcts in a human immunodeficiency virus-infected female child. ( 27890956 )
2016
46
Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study. ( 25533856 )
2015
47
Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency. ( 25618265 )
2015
48
Protein C deficiency related obscure gastrointestinal bleeding treated by enteroscopy and anticoagulant therapy. ( 25624741 )
2015
49
Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay. ( 25648792 )
2015
50
Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency. ( 25677123 )
2015

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 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
11.63 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 10.67 F2 F9 PROC

GO Terms for Protein C Deficiency

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

# 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 12)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.69 F5 PROC SERPINC1
2 ER to Golgi vesicle-mediated transport GO:0006888 9.67 F2 F5 F9 PROC
3 cellular protein metabolic process GO:0044267 9.65 F2 F5 PROC SERPINC1 SFTPC
4 regulation of blood coagulation GO:0030193 9.5 F2 HRG SERPINC1
5 blood coagulation GO:0007596 9.5 F2 F5 F9 HRG PROC SERPINC1
6 blood circulation GO:0008015 9.49 F5 MTHFR
7 fibrinolysis GO:0042730 9.48 F2 HRG
8 blood coagulation, intrinsic pathway GO:0007597 9.46 F2 F9
9 negative regulation of blood coagulation GO:0030195 9.43 PROC THBD
10 negative regulation of platelet activation GO:0010544 9.4 F2 THBD
11 negative regulation of fibrinolysis GO:0051918 9.33 F2 HRG THBD
12 hemostasis GO:0007599 9.17 F2 F5 F9 HRG PROC SERPINC1

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

# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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