MCID: PRT011
MIFTS: 60

Protein C Deficiency malady

Blood diseases category

Summaries for Protein C Deficiency

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Protein c deficiency is a disorder of blood clotting. people with this condition have an increased risk of developing abnormal blood clots. protein c is found in the bloodstream and blocks the activity of (inactivates) certain proteins that promote blood clotting. those with protein c deficiency do not have enough functional protein c to inactivate clotting proteins, which results in an increased risk of developing abnormal blood clots. other factors can raise the risk of abnormal blood clots in people with mild protein c deficiency. these factors include increasing age, surgery, immobility, or pregnancy. the combination of protein c deficiency and other inherited disorders of blood clotting can also influence the risk. however, most people with mild protein c deficiency never develop abnormal blood clots. protein c deficiency can be inherited or acquired. inherited forms are caused by mutations in the proc gene and inherited in an autosomal dominant fashion. last updated: 9/20/2011

MalaCards: Protein C Deficiency, also known as hereditary thrombophilia due to protein c deficiency, is related to purpura and protein s deficiency. An important gene associated with Protein C Deficiency is PROC (protein C (inactivator of coagulation factors Va and VIIIa)), and among its related pathways are Cell surface interactions at the vascular wall and Gamma-carboxylation, transport, and amino-terminal cleavage of proteins. The compounds coumarins and warfarin have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and testes, and related mouse phenotypes are cardiovascular system and hematopoietic system.

Genetics Home Reference:21 Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.

Wikipedia:63 Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first... more...

Aliases & Classifications for Protein C Deficiency

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8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

protein c deficiency 8 63 42 21 10 44 60
hereditary thrombophilia due to protein c deficiency 42 21
protein c 9 20
congenital thrombotic disease, due to protein c deficiency 60
proc deficiency 21


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Disease Ontology8 DOID:3756
SNOMED-CT56 76407009
MeSH34 D020151

Related Diseases for Protein C Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Protein C Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 310)
idRelated DiseaseScoreTop Affiliating Genes
1purpura31.1SERPINC1
2protein s deficiency30.8SERPINC1, F9, F5
3factor v deficiency30.8F2, F5
4hypertension30.7F2, F5, SERPINE1, MTHFR
5myocardial infarction30.7SERPINC1, F9, MTHFR, PROCR, HRG, SERPINE1
6prothrombin deficiency30.6SERPINC1, F2, F5, APOH
7ischemia30.6SERPINA4
8thrombophilia30.6F5, F2, THBD, SERPINA10, SERPIND1, SERPINE1
9portal vein thrombosis30.6F5, MTHFR, F2, SERPINC1
10acute myocardial infarction30.6SERPINC1, SERPINE1, THBD, HRG, SERPINF2
11lupus erythematosus30.5F5, PROCR, APOH, CFP, THBD, SERPINC1
12systemic lupus erythematosus30.5F2, CFP, THBD, APOH, PROCR
13acute leukemia30.5MTHFR
14factor vii deficiency30.5SERPINC1, F2, F5, F9
15leukemia30.5F9, MTHFR, SERPINF2
16pneumonia30.5SFTPC
17pulmonary embolism30.4SERPINF2, SERPINC1, F9, APOH, F5, MTHFR
18factor v leiden thrombophilia30.4SERPINC1, F9, CFP, THBD, F5, SERPIND1
19thrombophlebitis30.3APOH
20stroke, ischemic30.3F2, F5
21sagittal sinus thrombosis30.3F5, SERPINC1
22antithrombin iii deficiency30.3APOH, F5, MTHFR, F2, SERPINC1, SERPIND1
23malaria30.3CFP
24respiratory failure30.3SFTPC, SERPINC1
25factor viii deficiency30.3F5, F9
26nephrotic syndrome30.3SERPINF2, SERPINC1, F9
27vascular disease30.3THBD, SERPINE1, SERPINC1, MTHFR, F5, APOH
28hepatitis30.2F9, F2
29coronary thrombosis30.2SERPINE1, SERPINC1
30hepatitis c30.2F2, F9
31retinal vein occlusion30.2APOH, F5, MTHFR, SERPINC1
32breast cancer30.2MTHFR, F9, SERPINE1, PROCR
33antiphospholipid syndrome30.2F2, PROCR, MTHFR, F5, APOH, THBD
34disseminated intravascular coagulation30.2F2, PROC, F5, F9, THBD, SERPINE1
35hyperhomocysteinemia30.2F5, SERPINE1, APOH, F9, MTHFR, HRG
36retinal vascular occlusion30.2APOH, F5
37liver cirrhosis30.2F2, F9, SERPINF2, SERPINC1
38atherosclerosis30.2APOH, MTHFR, PROCR, THBD, SERPINE1, SERPINC1
39sickle cell disease30.1F9
40polycystic ovary syndrome30.1SERPINE1
41obesity30.1SERPINE1
42placental abruption30.1SERPINC1, MTHFR, F5
43blood protein disease30.1F2, F5, SERPINC1, MTHFR
44peripheral vascular disease30.1THBD, MTHFR
45arthritis30.0SERPINA4
46schistosomiasis30.0SERPINF2
47central retinal vein occlusion30.0APOH, F5, MTHFR
48deficiency anemia30.0F9, F2
49intracranial thrombosis30.0APOH, F5, MTHFR, SERPINC1
50thrombocytosis30.0F2, SERPINC1, THBD, SERPINF2

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



Diseases related to protein c deficiency

Clinical Features for Protein C Deficiency

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Drugs & Therapeutics for Protein C Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Protein C Deficiency

Search NIH Clinical Center for Protein C Deficiency

Search CenterWatch for Protein C Deficiency

Genetic Tests for Protein C Deficiency

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20GeneTests
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Genetic tests related to Protein C Deficiency:

id Genetic test Affiliating Genes
1 Protein C Deficiency20 PROC

Anatomical Context for Protein C Deficiency

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32MalaCards
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MalaCards organs/tissues related to Protein C Deficiency:

32
Skin, Liver, Testes, Brain, Lung, T cells, Myeloid, Breast, Heart, Bone marrow, Bone, Endothelial, Uterus, Testis, Eye, Monocytes, B cells

Animal Models for Protein C Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Protein C Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.4F9, SFTPC, FOXM1, F2, CFP, ONECUT1
2MP:00053979.4PROCR, PROC, HRG, F2, THBD, SERPIND1
3MP:00053709.2F9, FOXM1, F5, PROC, THBD, ONECUT1
4MP:00053878.9PROC, PROCR, FOXM1, SFTPC, F9, HRG
5MP:00107688.5PROCR, MTHFR, F5, FOXM1, APOH, SFTPC
6MP:00053768.4SERPINF2, F9, APOH, FOXM1, F5, MTHFR

Publications for Protein C Deficiency

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50PubMed
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Articles related to Protein C Deficiency:

(show top 50)    (show all 646)
idTitleAuthorsYear
1
Edema and ulcers on the legs and dilated abdominal veins caused by thromboembolism of inferior vena cava in a patient with protein C deficiency. (23974600)
2013
2
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C I'. (23319571)
2013
3
Dysgenesis of the inferior vena cava associated with deep venous thrombosis and a partial Protein C deficiency. (24421930)
2013
4
An infant with aortoiliac thrombosis due to congenital protein C deficiency: anesthetic implications. (22986322)
2012
5
Intermittent coronary artery occlusion caused by a floating thrombus in the left coronary sinus of valsalva of a patient with a normal aorta and protein C deficiency. (21958805)
2011
6
Severe protein C deficiency is associated with organ dysfunction in patients with severe sepsis. (21737232)
2011
7
Protein C deficiency in Thai children with thromboembolism: A report of clinical presentations and mutation analysis. (19922983)
2010
8
Deficiency of protein kinase C-theta facilitates tolerance induction. (19307786)
2009
9
Floating, non-occlusive, mobile aortic thrombus and splenic infarction associated with protein C deficiency. (19647398)
2009
10
Pulmonary thromboendarterectomy for chronic pulmonary thromboembolism in protein C deficiency. (16519132)
2006
11
A protein C deficiency exacerbates inflammatory and hypotensive responses in mice during polymicrobial sepsis in a cecal ligation and puncture model. (15466407)
2004
12
Low membrane protein sulfhydrils but not G6PD deficiency predict ribavirin-induced hemolysis in hepatitis C. (15122753)
2004
13
Mice with a severe deficiency of the endothelial protein C receptor gene develop, survive, and reproduce normally, and do not present with enhanced arterial thrombosis after challenge. (12353077)
2002
14
A case of purpura fulminans secondary to transient protein C deficiency as a complication of chickenpox infection. (12026205)
2002
15
Clinical management of protein C deficiency. (11336597)
2001
16
Multiple venous thrombosis in a patient with BehAset's disease and protein C deficiency. (11760411)
2001
17
Studies on congenital protein C deficiency in Japanese: prevalence, genetic analysis, and relevance to the onset of arterial occlusive diseases. (10805275)
2000
18
Jejunal stricture complicating acute mesenteric venous thrombosis secondary to protein C deficiency and factor V Leiden gene mutation. (10812821)
2000
19
Thrombotic risk of muscular dystrophy: protein C deficiency, factor V Leiden, and myotonic dystrophy. (10726006)
1999
20
Protein S deficiency, activated protein C resistance and sticky platelet syndrome in a young woman with bilateral strokes. (9973658)
1999
21
Protein C deficiency in microvascular head and neck reconstruction. (10890776)
1999
22
Type-I protein-C deficiency caused by disruption of a hepatocyte nuclear factor (HNF)-6/HNF-1 binding site in the human protein-C gene promoter. (10578522)
1999
23
Activated protein C resistance assay performance: improvement by sample dilution with factor V-deficient plasma. (9593344)
1998
24
An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency. (9683579)
1998
25
The usefulness of single-strand DNA conformation polymorphism analysis to detect mutations in protein C deficiency. (9491267)
1997
26
Developmental expression of MARCKS and protein kinase C in mice in relation to the exencephaly resulting from MARCKS deficiency. (8922669)
1996
27
Treatment of homozygous protein C deficiency with subcutaneous protein C concentrate. (8611462)
1996
28
Cerebral infarctions in young patients related to deficiency of natural anticoagulants. Protein C and protein S]. (9201339)
1996
29
Portal vein thrombosis caused by protein C and protein S deficiency associated with cytomegalovirus infection. (7699538)
1995
30
Livedo reticularis associated with hereditary protein C deficiency and recurrent thromboembolism. (7888369)
1995
31
Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. (7780138)
1995
32
Planned pregnancy and delivery in a patient with congenital afibrinogenaemia and heterozygous protein C deficiency. (7605881)
1995
33
Cerebral infarction in a young adult associated with protein C deficiency. A case report. (7702203)
1995
34
Protein C concentrate in the treatment of warfarin-induced skin necrosis in the protein C deficiency. (8029804)
1994
35
Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular mechanism. (8128429)
1993
36
Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations. (1347706)
1992
37
Protein C and protein S deficiency in thalassemic patients. (1298996)
1992
38
Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene. (1348046)
1992
39
The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects. (1868249)
1991
40
Hereditary protein C deficiency and portal-vein thrombosis. (1922594)
1991
41
Acquired transient protein C deficiency in neonatal cardiac failure. (2301982)
1990
42
Stroke in protein C deficiency. (2220892)
1990
43
Recurrent multiple-branch retinal arteriolar occlusions in a patient with protein C deficiency. (2806931)
1989
44
Acquired protein C deficiency in patients with breast cancer receiving cyclophosphamide, methotrexate, and 5-fluorouracil. (2920359)
1989
45
Homozygous protein C deficiency with delayed onset of symptoms at 7 to 10 months. (2660320)
1989
46
Transient ischemic attack in a patient with congenital protein-C deficiency during treatment with stanozolol. (3189300)
1988
47
Protein C deficiency in splanchnic venous thrombosis. (2955698)
1987
48
Purpura fulminans in meningococcemia: association with acquired deficiencies of proteins C and S. (2956521)
1987
49
Coumarin prophylaxis for fulminant purpura syndrome due to homozygous protein C deficiency. (2857966)
1985
50
Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. (6546411)
1984

Genetic Variations for Protein C Deficiency

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Expression for genes affiliated with Protein C Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Protein C Deficiency

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

Pathways for genes affiliated with Protein C Deficiency

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53Reactome, 49PharmGKB, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 52R&D Systems, 29KEGG
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Pathways related to Protein C Deficiency according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1F2, PROC, THBD
2
Hide members
10.1F9, F2, PROC
310.1PROC, F2, F9
410.1SERPINC1, F9, FOXM1
510.1HRG, SERPINE1, SERPINF2
610.1SERPINE1, MTHFR, F2
7
Hide members
10.0SERPINF2, SERPINE1, F5, HRG
8
Hide members
10.0SERPINF2, THBD, F2, HRG
9
Hide members
9.9PROC, F2, THBD, SERPINC1, F5
10
Hide members
9.7F9, F5, PROC, F2, THBD, SERPINE1
11
Hide members
9.4SERPINC1, SERPINF2, SERPINE1, SERPIND1, THBD, F2
12
Hide members
9.4SERPINF2, SERPINC1, SERPINE1, SERPIND1, THBD, F2

Compounds for genes affiliated with Protein C Deficiency

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 2BitterDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Protein C Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 130)
idCompoundScoreTop Affiliating Genes
1coumarins4410.6APOH, F9
2warfarin44 49 11 2413.5F9, APOH, PROC, SERPINC1
3hirugen4410.4F5, THBD, F2, SERPINC1
4ximelagatran44 1111.4SERPINC1, THBD, F2, F5
5inogatran4410.4SERPINC1, F2, F5
6heparinoids4410.4F5, F2, SERPINC1, THBD
7bivalirudin44 1111.4F5, THBD, F2, SERPINC1
8kaolin4410.4F9, APOH, F5, F2
9argatroban44 1111.4F5, SERPINC1, THBD, F2
10fibrinopeptide a4410.4F2, SERPINF2, SERPINC1, THBD
11dextran sulfate4410.3F9, APOH, F5, CFP
12ecarin4410.3SERPINC1, F2, F5
13benzamidine44 1111.3THBD, SERPINC1, F5, F9
1411-dehydrothromboxane b24410.3THBD, F2, APOH, SERPINE1
15tranexamic acid44 1111.3SERPINC1, F2, F9, SERPINE1
16fondaparinux4410.3F5, F9, SERPINC1, THBD, F2
17spectrozyme4410.3SERPINC1, F5, F2
18ancrod4410.3F2, THBD, F5, SERPINE1, SERPINC1
19Drotrecogin alfa1110.3SERPINE1, F5, THBD, F2, PROCR
20ristocetin4410.3F9, F5, F2, SERPINC1, SERPINF2
21danaparoid4410.2F2, F5, SERPINC1
22phosphatidylethanolamine44 1111.2APOH, PROCR, F2, F5, F9
23gamma-carboxyglutamic acid4410.2F5, F9, PROCR, F2, THBD, PROC
24batroxobin4410.2F2, SERPINE1, F5
25coumarin44 2 49 2413.2SERPINC1, F5, F2, F9
26epsilon aminocaproic acid4410.1HRG, SERPINF2, SERPINC1, SERPINE1, F9, F2
27pge14410.1F5, APOH, F2, THBD, SERPINE1
28organon4410.1F2, SERPINC1, F9
29eaca4410.1SERPINE1, SERPINC1, SERPINF2
30phosphatidylcholine4410.1APOH, SFTPC, F2, THBD, F5, F9
31dermatan sulfate4410.1THBD, SERPINC1, SERPIND1, HRG, F5, F9
32serine4410.1SERPINA4, F9, SERPIND1, HRG, SERPINA10, PROCR
33desmopressin44 59 28 1113.0SERPINC1, F9, F5, F2, THBD, SERPINF2
34cyclophosphamide44 49 1112.0APOH, THBD, SERPINE1, F9, MTHFR, F5
35endotoxin4410.0F9, APOH, SERPINF2, SERPINE1, THBD, PROCR
36aprotinin44 1111.0SERPINF2, SERPINE1, SERPINA4, THBD, F5, F9
37aspirin44 49 28 2413.0F2, SERPINC1, APOH, SERPINE1, F5, MTHFR
38chloramphenicol44 2 1111.9FOXM1, F9, SERPINE1, SERPINC1, SFTPC, THBD
39hirudin449.9SERPINF2, SERPINC1, THBD, F2, PROCR, F5
40homocysteine44 2410.9F9, APOH, F5, MTHFR, F2, THBD
41heparin44 28 11 2412.8F9, APOH, MTHFR, HRG, CFP, SERPINA4
42creatinine449.8THBD, MTHFR, APOH, SERPINC1, F5, F9
43phospholipid449.8F5, F9, SFTPC, APOH, THBD, F2
44p-amino benzamidine449.8F9, SERPINE1, SERPINC1
45cholesterol44 28 11 2412.7SERPINE1, THBD, SERPINF2, SFTPC, APOH, F5
46vegf449.7PROCR, APOH, THBD, SFTPC, F5, SERPINC1
47kininogen449.6SERPINF2, SERPINC1, SERPINE1, SERPINA4, THBD, F2
48estrogen449.6SERPINE1, F2, MTHFR, F5, FOXM1, SERPINC1
49arginine449.4SERPINF2, HRG, F9, SFTPC, APOH, F5
50fibrinogen449.2SERPINE1, SERPINC1, SERPIND1, THBD, F2, HRG

GO Terms for genes affiliated with Protein C Deficiency

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16Gene Ontology
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Cellular components related to Protein C Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:00579610.1F2, PROC, F9
2platelet alpha granule lumenGO:0310939.7F5, HRG, SERPINE1, SERPINF2
3extracellular regionGO:0055769.2HRG, PROC, F5, F9, F2, CFP
4extracellular spaceGO:0056159.0SERPINF2, SFTPC, APOH, F5, F2, CFP

Biological processes related to Protein C Deficiency according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:01718710.3F9, PROC, F2
2positive regulation of blood coagulationGO:03019410.3APOH, F2, SERPINE1
3negative regulation of plasminogen activationGO:01075710.3SERPINF2, SERPINE1
4negative regulation of blood coagulationGO:03019510.3SERPINE1, THBD, PROC, APOH
5negative regulation of cell adhesion mediated by integrinGO:03362910.2HRG, SERPINE1
6blood coagulation, intrinsic pathwayGO:00759710.2F2, APOH, F9
7fibrinolysisGO:04273010.2HRG, F2, SERPINE1, SERPINF2
8regulation of blood coagulationGO:03019310.1F2, HRG
9leukocyte migrationGO:05090010.1THBD, F2, PROC
10platelet degranulationGO:00257610.1F5, HRG, SERPINE1, SERPINF2
11platelet activationGO:03016810.0F5, HRG, F2, SERPINE1, SERPINF2
12regulation of proteolysisGO:03016210.0SERPINA4, SERPINA10, SERPIND1, SERPINC1, SERPINF2
13negative regulation of fibrinolysisGO:05191810.0APOH, HRG, F2, THBD, SERPINE1, SERPINF2
14negative regulation of platelet activationGO:0105449.9THBD, F2
15negative regulation of endopeptidase activityGO:0109519.9SERPINA4, SERPINA10, SERPIND1, SERPINE1, SERPINC1, SERPINF2
16blood coagulationGO:0075969.3SERPINF2, F9, F5, PROCR, PROC, SERPINC1

Molecular functions related to Protein C Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020209.8SERPINE1, SERPINC1, SERPINF2
2heparin bindingGO:0082019.7SERPINC1, SERPIND1, SERPINA10, HRG, APOH
3serine-type endopeptidase inhibitor activityGO:0048679.5SERPINF2, HRG, SERPINA4, SERPINA10, SERPIND1, SERPINE1
4protein bindingGO:0055159.0APOH, FOXM1, F5, PROCR, PROC, HRG

Products for genes affiliated with Protein C Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Protein C Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet