MCID: PRT011
MIFTS: 48

Protein C Deficiency

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Protein C Deficiency

MalaCards integrated aliases for Protein C Deficiency:

Name: Protein C Deficiency 12 72 72 49 24 51 41 14 69
Hereditary Thrombophilia Due to Protein C Deficiency 49 24
Autosomal Recessive Thrombophilia Due to Congenital Protein C Deficiency 49
Severe Hereditary Thrombophilia Due to Congenital Protein C Deficiency 49
Hereditary Thrombophilia Due to Congenital Protein C Deficiency 49
Congenital Thrombotic Disease, Due to Protein C Deficiency 69
Autosomal Recessive Thrombophilia Due to Pc Deficiency 49
Hereditary Thrombophilia Due to Pc Deficiency 49
Proc Deficiency 24
Protein C 13

Classifications:



External Ids:

Disease Ontology 12 DOID:3756
ICD10 32 D68.59
MeSH 41 D020151
NCIt 46 C99025
SNOMED-CT 64 76407009

Summaries for Protein C Deficiency

NIH Rare Diseases : 49 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 Protein C and Anticoagulants have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and lung, and related phenotypes are cardiovascular system and liver/biliary system

Genetics Home Reference : 24 Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.

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 207)
# Related Disease Score Top Affiliating Genes
1 thrombophilia due to activated protein c resistance 31.8 F2 F5 F9 MTHFR SERPINC1 THBD
2 budd-chiari syndrome 31.1 F2 F5 MTHFR SERPINC1
3 purpura fulminans 30.5 F2 PROC SERPINC1
4 purpura 30.0 F2 PROC SERPINC1 THBD
5 afibrinogenemia 29.7 F2 F5
6 sagittal sinus thrombosis 29.6 F2 F5 SERPINC1
7 afibrinogenemia, congenital 29.5 F2 SERPINC1
8 neonatal stroke 29.4 MTHFR PROC
9 amaurosis fugax 29.3 F5 MTHFR
10 pulmonary hypertension 29.2 SERPINC1 SFTPC THBD
11 thrombocytosis 29.1 F2 SERPINC1
12 arteries, anomalies of 29.0 F2 MTHFR SERPINC1
13 portal vein thrombosis 29.0 F2 F5 MTHFR SERPINC1
14 thrombophlebitis 28.9 F2 F5 MTHFR SERPINC1
15 meningococcemia 28.9 F5 PROC SERPINC1 THBD
16 protein s deficiency 28.8 F2 F5 MTHFR SERPINC1
17 dysfibrinogenemia 28.8 F2 F5 SERPINC1 THBD
18 osteonecrosis 28.8 F2 MTHFR SERPINC1
19 thrombophilia due to thrombin defect 28.7 F2 F5 MTHFR PROC SERPINC1 THBD
20 myocardial infarction 28.6 F2 F5 MTHFR SERPINC1 THBD
21 antithrombin iii deficiency 28.5 F2 F5 MTHFR SERPINC1
22 central retinal vein occlusion 28.5 F2 F5 MTHFR SERPINC1
23 intracranial hypertension 28.4 F2 F5 MTHFR SERPINC1
24 retinal vein occlusion 28.4 F2 F5 MTHFR SERPINC1
25 stroke, ischemic 28.4 F2 F5 MTHFR SERPINC1 THBD
26 disseminated intravascular coagulation 28.3 F2 F5 F9 SERPINC1 THBD
27 pulmonary embolism 28.3 F2 F5 F9 MTHFR SERPINC1
28 antiphospholipid syndrome 27.9 F2 F5 MTHFR SERPINC1 THBD
29 thrombosis 27.8 F2 F5 F9 HRG MTHFR PROC
30 thrombophilia 26.9 F2 F5 F9 HRG MTHFR PROC
31 thrombophilia due to protein c deficiency, autosomal recessive 12.5
32 thrombophilia due to protein c deficiency, autosomal dominant 12.5
33 surfactant metabolism dysfunction, pulmonary, 2 11.7
34 pulmonary fibrosis, idiopathic 10.9
35 thrombophilia due to protein s deficiency, autosomal dominant 10.9
36 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.5
37 paracetamol poisoning 10.4 F2 F5
38 cerebral sinovenous thrombosis 10.4 F2 F5
39 hemoglobin e disease 10.3 F2 F5
40 factor viii deficiency 10.3 F2 F5
41 sticky platelet syndrome 10.3 F5 SERPINC1
42 intestinal impaction 10.3 F2 SERPINC1
43 scott syndrome 10.3 F2 F5
44 fournier gangrene 10.3 F2 SERPINC1
45 leech infestation 10.3 F2 SERPINC1
46 alpha-2-plasmin inhibitor deficiency 10.3 F2 SERPINC1
47 acute liver failure 10.3 F2 F5
48 giant hemangioma 10.3 F2 SERPINC1
49 acute respiratory distress syndrome 10.3 F5 SFTPC
50 blue toe syndrome 10.2 F2 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 SFTPC THBD F2 F5 F9 PROC
2 liver/biliary system MP:0005370 9.35 THBD F5 F9 PROC SERPINC1
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Protein C Approved Phase 2, Phase 3
2 Anticoagulants Phase 2, Phase 3
3 Fibrinolytic Agents Phase 2, 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:

38
Skin, Liver, Lung, Testes, Myeloid, Brain, Breast

Publications for Protein C Deficiency

Articles related to Protein C Deficiency:

(show top 50) (show all 555)
# Title Authors Year
1
Successful liver transplantation for homozygous protein C deficiency with a type II mutation using a heterozygous living related donor. ( 29218739 )
2018
2
Rivaroxaban dose adjustment using thrombin generation in severe congenital protein C deficiency and warfarin-induced skin necrosis. ( 29365322 )
2018
3
Acute Anorectal Thrombophlebitis Caused by a Protein C Deficiency. ( 29033437 )
2018
4
Perioperative management of severe congenital protein C deficiency. ( 28737523 )
2017
5
A novel compound heterozygous form of severe protein C deficiency causing bleeding without purpura fulminans. ( 28485122 )
2017
6
Homozygous protein C deficiency presenting as neonatal purpura fulminans: management with fresh frozen plasma, low molecular weight heparin and protein C concentrate. ( 29270858 )
2017
7
Successful ABO-incompatible pediatric living donor liver transplantation in an infant with protein C deficiency. ( 28266768 )
2017
8
Anticoagulation therapy for thromboembolism prevention: a case of warfarin-induced skin necrosis in the setting of protein C deficiency. ( 28500260 )
2017
9
Early antithrombotic treatment with warfarin oral suspension in severe neonatal protein C deficiency. ( 28259509 )
2017
10
A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects. ( 28265398 )
2017
11
[Analysis of phenotypes and genetic mutations in two pedigrees affected with hereditary protein C deficiency]. ( 28186585 )
2017
12
The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene. ( 28111891 )
2017
13
Simultaneous Left Ventricular and Deep Vein Thrombi Caused by Protein C Deficiency. ( 28194181 )
2017
14
Purpura fulminans in congenital protein C deficiency successfully treated with fresh frozen plasma and thrombomodulin. ( 29265490 )
2017
15
Protein C deficiency resulting from two mutations in<i>PROC</i>presenting with recurrent venous thromboembolism. ( 29349439 )
2017
16
Protein C Deficiency Caused by a Novel Mutation in the<i>PROC</i>Gene in an Infant with Delayed Onset Purpura Fulminans. ( 29082047 )
2017
17
A case of Protein C deficiency presenting as massive pulmonary thrombus and CC F. ( 27728303 )
2016
18
Protein S and protein C deficiency with multiple infarcts in a human immunodeficiency virus-infected female child. ( 27890956 )
2016
19
Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes. ( 27517348 )
2016
20
Concurrent Factor V Leiden and Protein C Deficiency Presenting as Mesenteric Venous Thrombosis. ( 27097617 )
2016
21
Severe Congenital Protein C Deficiency: Practical Aspects of Management. ( 27138381 )
2016
22
Early cirrhosis in a young female with protein C deficiency: An extremely unusual case report with review. ( 27510694 )
2016
23
Efficacy and safety of protein C concentrate to treat purpura fulminans and thromboembolic events in severe congenital protein C deficiency. ( 27052576 )
2016
24
Renal Papillary Necrosis Caused by Protein C Deficiency Leading to Recurrent Hydronephrosis. ( 27579411 )
2016
25
Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay. ( 25648792 )
2015
26
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
27
Portal vein thrombosis associated with protein C deficiency and elevated Factor VIII in hepatosplenic schistosomiasis. ( 26397884 )
2015
28
Prenatal genetic testing for familial severe congenital protein C deficiency. ( 27081530 )
2015
29
Molecular characterization of novel splice site mutation causing protein C deficiency. ( 26656900 )
2015
30
Successful living domino liver transplantation in a child with protein C deficiency. ( 25712501 )
2015
31
Purpura Fulminans Due to Acquired Protein C Deficiency. ( 26677306 )
2015
32
Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency. ( 25618265 )
2015
33
Protein C Deficiency in Chronic Hepatitis C: Correlation With Histological Extent of Liver Fibrosis. ( 26008227 )
2015
34
Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency. ( 25677123 )
2015
35
Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency. ( 26250584 )
2015
36
Protein C deficiency related obscure gastrointestinal bleeding treated by enteroscopy and anticoagulant therapy. ( 25624741 )
2015
37
Neonatal purpura fulminans due to protein C deficiency. ( 25783192 )
2015
38
Case of mesenteric ischaemia secondary to triple occlusive arterial disease in a patient with protein C deficiency and radiation-induced vascular insufficiency. ( 25649122 )
2015
39
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
40
Cardiac left ventricular thrombus in protein C deficiency. ( 25114374 )
2014
41
Clinical and laboratory characteristics of children with venous thromboembolism and protein C-deficiency: an observational Israeli-German cohort study. ( 25039884 )
2014
42
The significance of F139V mutation on thrombotic events in compound heterozygous and homozygous protein C deficiency. ( 24911457 )
2014
43
Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis. ( 24782131 )
2014
44
Hereditary protein C deficiency caused by compound heterozygous mutants in two independent Chinese families. ( 25393254 )
2014
45
Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study. ( 25533856 )
2014
46
Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency. ( 24509341 )
2014
47
Subcutaneous protein C concentrate in the management of severe protein C deficiency - experience from 12 centres. ( 24422725 )
2014
48
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
49
Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress. ( 24648475 )
2014
50
Combined crvo with crao in a patient with protein C deficiency. ( 25372333 )
2014

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
12.94 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
11.63 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 10.61 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 15)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.73 F2 F5 F9 PROC
2 leukocyte migration GO:0050900 9.7 F2 PROC THBD
3 cellular protein metabolic process GO:0044267 9.65 F2 F5 PROC SERPINC1 SFTPC
4 regulation of blood coagulation GO:0030193 9.58 F2 HRG SERPINC1
5 antimicrobial humoral immune response mediated by antimicrobial peptide GO:0061844 9.55 F2 HRG
6 blood circulation GO:0008015 9.54 F5 MTHFR
7 signal peptide processing GO:0006465 9.54 F2 F9 PROC
8 fibrinolysis GO:0042730 9.51 F2 HRG
9 peptidyl-glutamic acid carboxylation GO:0017187 9.5 F2 F9 PROC
10 blood coagulation GO:0007596 9.5 F2 F5 F9 HRG PROC SERPINC1
11 blood coagulation, intrinsic pathway GO:0007597 9.49 F2 F9
12 negative regulation of blood coagulation GO:0030195 9.48 PROC THBD
13 negative regulation of platelet activation GO:0010544 9.46 F2 THBD
14 negative regulation of fibrinolysis GO:0051918 9.33 F2 HRG THBD
15 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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