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, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 9diseasecard, 20GeneTests, 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:

Search CenterWatch for Protein C Deficiency

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, Bone marrow, Breast, Heart, Bone, Endothelial, Uterus, Testis, Monocytes, Eye, 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
Hypercoagulability in a newborn with concomitant homozygous factor V Leiden and severe homozygous protein C deficiency type 1. (24056294)
2013
2
Omental gangrene and porto-mesenteric thrombosis in a patient of protein C and protein s deficiency. (24426632)
2013
3
Deficiency of antithrombin and protein C gene in 202 Chinese venous thromboembolism patients. (24028705)
2013
4
A survey of 20 inherited protein C deficiencies in the patients with venous thromboembolism]. (22944127)
2012
5
Deep vein thrombosis associated with protein C and protein S deficiency: an unusual cause of acute abdomen. (21547930)
2011
6
An accompanying genetic severe deficiency of tissue factor protects mice with a protein C deficiency from lethal endotoxemia. (20858853)
2011
7
Acquired protein C deficiency in a child with acute myelogenous leukemia, splenic, renal, and intestinal infarction. (21178585)
2011
8
Persistent Fetal Vasculature and Severe Protein C Deficiency. (21045961)
2010
9
Proteasome degradation of protein C and plasmin inhibitor mutants: molecular mechanism of congenital protein deficiency]. (19764408)
2009
10
A model for the formation, growth, and lysis of clots in quiescent plasma. A comparison between the effects of antithrombin III deficiency and protein C deficiency. (18539301)
2008
11
Anticoagulant blood factor deficiencies (protein C). (17727240)
2007
12
Protein C deficiency screening using a thrombin-generation assay. (17200789)
2007
13
Genetic background of type I protein C deficiency in Finland. (16360797)
2006
14
Calciphylaxis: a rare association with alcoholic cirrhosis. Are deficiencies in protein C and S the cause? (16108246)
2005
15
Chronic venous abnormalities in symptomatic and asymptomatic protein C deficiency. (15978099)
2005
16
Are the strokes in moyamoya syndrome associated with Down syndrome due to protein C deficiency? (12427521)
2002
17
Extensive coumarin-induced skin necrosis in a patient with acquired protein C deficiency. (11685354)
2001
18
Molecular genetic analysis of severe protein C deficiency. (10942114)
2000
19
Single founder mutation (W380G) in type II protein C deficiency in Finland. (11019966)
2000
20
Deficiency of natural anticoagulant proteins C, S, and antithrombin in portal vein thrombosis: a secondary phenomenon? (10716684)
2000
21
Analysis of 45 episodes of arterial occlusive disease in Japanese patients with congenital protein C deficiency. (10230891)
1999
22
Mesenteric artery thrombosis: a case report of combined protein S and protein C deficiency. (9662280)
1998
23
Arterial thrombosis leading to intestinal infarction in a patient with BehAset's disease associated with protein C deficiency. (9860426)
1998
24
The successful use of protein C concentrate during pregnancy in a patient with type 1 protein C deficiency, previous thrombosis and recurrent fetal loss. (9332323)
1997
25
Paediatric thrombo-embolism: the influence of non-genetic factors and the role of activated protein C resistance and protein C deficiency. (9128811)
1997
26
Familial thrombophilia: clinical and molecular analysis of Swedish families with inherited resistance to activated protein C or protein S deficiency. (8981666)
1996
27
Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patients. (8807339)
1996
28
Hereditary deficiency of protein C, protein S and antithrombin III. (8696990)
1996
29
Eosinophilic gastro-enteritis associated with protein-losing enteropathy and protein C deficiency. (8674794)
1996
30
Combined factor IX and protein C deficiency in a child: thrombogenic effects of two factor IX concentrates. (7847325)
1995
31
Aberrant processing of surfactant protein C in hereditary SP-B deficiency. (7537464)
1995
32
The risk of thromboembolism in asymptomatic patients with protein C and protein S deficiency: a prospective cohort study. (8052960)
1994
33
Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency. (8244342)
1993
34
Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket. (8398832)
1993
35
Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. (8093743)
1993
36
Protein C survival during replacement therapy in homozygous protein C deficiency. (1503096)
1992
37
Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene. (1675129)
1991
38
Late-onset homozygous protein C deficiency. (1678832)
1991
39
Meningococcemia and purpura fulminans in adults: acute deficiencies of proteins C and S and early treatment with antithrombin III concentrates. (2139671)
1990
40
Hereditary protein C deficiency--the first symptomatic family in Singapore. (2802509)
1989
41
Congenital severe protein C deficiency in adults. (2547423)
1989
42
Above-knee amputation with insidious pulmonary embolism and hypercoagulability secondary to protein C deficiency. (2774890)
1989
43
Protein C deficiency and the risk of venous thrombosis. (3352682)
1988
44
Combined factor VII and protein C deficiency found in a patient with peripheral pulmonary artery stenosis accompanied by progressive pulmonary hypertension and hemoptysis. (3187953)
1988
45
Association of inherited dysfibrinogenaemia and protein C deficiency in two unrelated families. (3355791)
1988
46
The use of a functional and immunologic assay for plasma protein C in the study of the heterogeneity of congenital protein C deficiency. (6547008)
1984
47
Severe homozygous protein C deficiency. (6547978)
1984
48
Severe inherited "homozygous" protein C deficiency in a newborn infant. (6548587)
1984
49
Effect of dietary protein and hypervitaminosis A or C on tissue peroxidation and erythrocyte lysis of vitamin E deficiency. (7160964)
1982
50
In vivo incorporation of L-(U- 14 C) lysine and L-(U- 14 C) leucine into brain proteins in pyridoxine deficiency. (5098364)
1971

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, 29KEGG, 52R&D Systems
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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
110.1THBD, F2, PROC
2
Hide members
10.1F2, PROC, F9
310.1F2, PROC, F9
410.1F9, FOXM1, SERPINC1
510.1HRG, SERPINE1, SERPINF2
610.1SERPINE1, F2, MTHFR
7
Hide members
10.0F5, HRG, SERPINE1, SERPINF2
8
Hide members
10.0SERPINF2, THBD, F2, HRG
9
Hide members
9.9F5, PROC, F2, THBD, SERPINC1
10
Hide members
9.7F9, F5, PROC, F2, THBD, SERPINE1
11
Hide members
9.4SERPINF2, F9, SERPINC1, SERPINE1, SERPIND1, THBD
12
Hide members
9.4F9, F5, PROC, F2, THBD, SERPIND1

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