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:

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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, 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
Acute aortoiliac thrombotic occlusion in an infant with protein C deficiency and small atrial sepal defect--a rare case. (23480928)
2013
2
Protein C deficiency: a case review. (21576049)
2011
3
Association of protein C deficiency with heat stroke in cool environment. (23006420)
2010
4
Case report: perioperative use of protein c concentrate for protein C deficiency in THA. (20012238)
2010
5
Use of human protein C concentrates in the treatment of patients with severe congenital protein C deficiency. (20376174)
2010
6
Hereditary basis of protein C deficiency (PCD) in thrombosis patients: first report from India. (19350130)
2009
7
Fulminant sepsis/meningitis due to Haemophilus influenzae in a protein C-deficient heterozygote treated with activated protein C therapy. (18751723)
2009
8
Splenic infarction in a patient hereditary spherocytosis, protein C deficiency and acute infectious mononucleosis. (18604554)
2008
9
Human protein C concentrates for replacement therapy in congenital and acquired protein C deficiency. (18596997)
2008
10
Successful protein C concentrate administration during initiation of oral anticoagulation in adult patients with severe congenital protein C deficiency: report of two cases. (19127082)
2008
11
Normal retinal vasculature despite familial protein C deficiency. (15860318)
2005
12
Attitudes toward genetic testing for thrombophilia in asymptomatic members of a large family with heritable protein C deficiency. (16241941)
2005
13
Pseudo-protein S deficiency due to activated protein C resistance. (15041281)
2003
14
Successful management of a pregnant woman with heterozygous protein C deficiency using activated protein C concentrate. (14641692)
2003
15
Hereditary deficiencies of antithrombin III, protein S, and the protein C pathway in Jordanian thrombosis patients. (12776777)
2002
16
Relentless progression of venous obstruction in a case of Budd-Chiari syndrome related to heterozygous protein C deficiency. (11907752)
2001
17
Activated protein C resistance and false type 2 protein C deficiency detected after multiple shunt failures in a patient with hydrocephalus. (11732775)
2001
18
Neonatal purpura fulminans due to homozygous protein C deficiency. (11594708)
2001
19
Thrombosis of lienal vein and acute consumptive coagulopathy following warfarin administration in a patient with severe protein C deficiency. (10997333)
2000
20
Duration of oral anticoagulant treatment in patients with venous thromboembolism and a deficiency of antithrombin, protein C or protein S--a decision analysis. (11127851)
2000
21
Mesenteric venous thrombosis associated with protein C deficiency. (10433018)
1999
22
Stroke after zoster ophthalmicus in a 12-year-old girl with protein C deficiency. (10496280)
1999
23
Budd-Chiari syndrome attributed to protein C deficiency. (8677948)
1996
24
Successful management of congenital protein C deficiency with recurrent pregnancy loss. (7589756)
1995
25
Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study) (7742536)
1995
26
Detection of protein C or protein S deficiency in patients on warfarin therapy--a study of nine patients. (7847765)
1994
27
Symptomatic hereditary type-II protein C deficiency caused by a missense mutation in exon IX of the protein C gene (Gly381 to Ser). (8018768)
1994
28
Acquired type II protein C deficiency in a long-term hemodialysis patient. (8190190)
1994
29
Inherited heterozygous protein C deficiency and dysfunctional protein S with recurrent venous thrombotic diseases: a study of three generations of a Japanese family. (1286225)
1992
30
Hereditary protein C-deficiency: laboratory values in transmitters and guidelines for the diagnostic procedure. Report on a study of the SSC Subcommittee on Protein C and Protein S. Protein C Transmitter Study Group. (1448781)
1992
31
Extensive venous thrombosis in a case of BehAset's disease associated with heterozygous protein C deficiency. (1621252)
1992
32
Protein C and S deficiency in severe infectious purpura of children: a collaborative study of 40 cases. (1430582)
1992
33
Cerebral infarction associated with protein C deficiency. (1731409)
1992
34
Pregnancy and protein C deficiency. (1511769)
1992
35
Arterial thrombosis as clinical manifestation of congenital protein C deficiency. (2049465)
1991
36
Homozygous protein C deficiency in two siblings. (2206858)
1990
37
Protein C deficiency in a black South African family. A case report. (2300856)
1990
38
Diagnosis and treatment of homozygous protein C deficiency. Report of the Working Party on Homozygous Protein C Deficiency of the Subcommittee on Protein C and Protein S, International Committee on Thrombosis and Haemostasis. (2647943)
1989
39
Homozygous protein C deficiency: early treatment with warfarin. (2618972)
1989
40
Association of congenital protein C deficiency and latent myeloproliferative disease as cause of splanchnic venous thrombosis in a 34-year-old woman. (2611143)
1989
41
Concomitant chronic lymphocytic leukemia, acute myeloid leukemia, and thrombosis with protein C deficiency. Case report and review of the literature. (2646007)
1989
42
Cerebral venous thrombosis in hereditary protein C deficiency. (2709030)
1989
43
Homozygous protein C deficiency: observations on the nature of the molecular abnormality and the effectiveness of warfarin therapy. (3340476)
1988
44
The report of an Italian family with heterozygous protein C deficiency. (2467857)
1988
45
Protein C deficiency associated with vitreous hemorrhage in a neonate. (3674193)
1987
46
Hereditary protein C deficiency during pregnancy. (3688069)
1987
47
Protein C deficiency: a cause of amaurosis fugax? (3559620)
1987
48
Coumarin induced acral skin necrosis associated with hereditary protein C deficiency. (3755068)
1986
49
Transient ischemic attack (T.I.A.) in a patient with non-thrombogenic hereditary protein C deficiency under oral contraceptives. (3841422)
1985
50
Congenital protein C deficiency and thrombotic disease in nine French families. (6437521)
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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Sources:
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