MCID: PRT011
MIFTS: 55

Protein C Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Protein C Deficiency

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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 procĀ 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 venous thrombosis. 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 Response to elevated platelet cytosolic Ca2+ and Collagen biosynthesis and modifying enzymes. The compounds gamma-carboxyglutamic acid and inogatran have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone marrow, and related mouse phenotypes are cardiovascular system and mortality/aging.

Wikipedia:66 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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9Disease Ontology, 10diseasecard, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Aliases & Descriptions:

protein c deficiency 9 66 44 22 11 46 63
hereditary thrombophilia due to protein c deficiency 44 22
protein c 10 21
congenital thrombotic disease, due to protein c deficiency 63
proc deficiency 22


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Disease Ontology9 DOID:3756
SNOMED-CT59 76407009
MeSH36 D020151

Related Diseases for Protein C Deficiency

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18GeneCards, 19GeneDecks
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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 276)
idRelated DiseaseScoreTop Affiliating Genes
1purpura31.2SERPINC1
2venous thrombosis31.1SERPINC1, PROC, F5, HRG
3purpura fulminans31.1F5, PROC, SERPINC1
4thromboembolism30.9SERPINC1, PROC, F5, HRG
5myocardial infarction30.7SERPINC1, F5, HRG
6thrombophilia30.6HRG, F5, PROC, SERPINC1
7lupus erythematosus30.6F5, SERPINC1, CFP
8acute myocardial infarction30.6HRG, SERPINC1
9portal vein thrombosis30.5SERPINC1, F5
10sepsis30.5F5, PROC, SERPINC1
11pulmonary embolism30.5F5, SERPINC1
12protein s deficiency30.4F5, SERPINC1
13respiratory failure30.4SERPINC1, SFTPC
14factor v leiden thrombophilia30.4F5, SERPINC1, CFP
15afibrinogenemia30.3F5, CFP
16sagittal sinus thrombosis30.3SERPINC1, F5
17pregnancy loss30.3SERPINC1, F5
18disseminated intravascular coagulation30.2SERPINC1, PROC, F5
19hyperhomocysteinemia30.2HRG, F5, SERPINC1
20vascular disease30.2F5, SERPINC1
21placental abruption30.2SERPINC1, F5
22central retinal vein occlusion30.2F5
23factor viii deficiency30.2F5, SERPINC1
24coronary thrombosis30.1SERPINC1
25meningococcemia30.1F5, SERPINC1
26retinal vein occlusion30.1SERPINC1, F5
27antithrombin iii deficiency30.1SERPINC1, F5
28dysfibrinogenemia30.1SERPINC1, F5
29antiphospholipid syndrome30.0SERPINC1, F5
30thrombocytopenia30.0F5, SERPINC1
31septic shock30.0CFP, SERPINC1, F5
32eclampsia29.9SERPINC1
33legg-calve-perthes disease29.8SERPINC1, F5
34endotheliitis11.1
35hypertrophic cardiomyopathy10.8
36cerebritis10.7
37hypertension10.5
38familial hypertrophic cardiomyopathy10.5
39ischemia10.5
40portal hypertension10.4
41systemic lupus erythematosus10.4
42inflammatory bowel disease10.4
43leukemia10.4
44thrombophilia due to protein c deficiency, autosomal dominant10.4
45acute pancreatitis10.4
46retinitis10.3
47pneumonia10.3
48prostatitis10.3
49splenic infarction10.3
50priapism10.3

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



Diseases related to protein c deficiency

Symptoms for Protein C Deficiency

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Drugs & Therapeutics for Protein C Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Protein C Deficiency

Search CenterWatch for Protein C Deficiency

Genetic Tests for Protein C Deficiency

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21GeneTests
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Genetic tests related to Protein C Deficiency:

id Genetic test Affiliating Genes
1 Protein C Deficiency21 PROC

Anatomical Context for Protein C Deficiency

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34MalaCards
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MalaCards organs/tissues related to Protein C Deficiency:

34
Skin, Liver, Bone marrow, Myeloid, Bone, Testes, Heart, Breast, Uterus, Lung, Brain, Eye, Monocytes

Animal Models for Protein C Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Protein C Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.6F5, PROC, SERPINC1, CFP, SFTPC
2MP:00107687.6F5, PROC, SERPINC1, CFP, SFTPC
3MP:00053877.5SFTPC, CFP, SERPINC1, PROC, HRG
4MP:00053767.3CFP, SERPINC1, PROC, F5, HRG

Publications for Protein C Deficiency

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53PubMed
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Articles related to Protein C Deficiency:

(show top 50)    (show all 503)
idTitleAuthorsYear
1
Neonatal asphyxia and renal failure as the presentation of non-inherited protein C deficiency. (23443294)
2013
2
Long-term Follow-up of Homozygote Protein C Deficiency After Multimodal Therapy. (24136027)
2013
3
The phenotypic and genetic assessment of protein C deficiency. (22321166)
2012
4
An infant with aortoiliac thrombosis due to congenital protein C deficiency: anesthetic implications. (22986322)
2012
5
Association of protein C deficiency with heat stroke in cool environment. (23006420)
2010
6
Spontaneous right ventricular thrombus in a patient with active ulcerative colitis and protein C deficiency: a review with a case report. (20556925)
2010
7
Neonatal arterial iliac thrombosis in type-I protein C deficiency: a case report. (20211026)
2010
8
Definite diagnosis in Japanese patients with protein C deficiency by identification of causative PROC mutations. (19373522)
2009
9
Early-onset stroke in a patient with nasopharyngeal cancer associated with protein C deficiency. (19586834)
2009
10
Activated protein C concentrate treatment for skin necrosis under warfarin treatment in severe genetic protein C deficiency combined with prothrombin mutation and factor V Leiden. (19190829)
2009
11
Recurrent vasculopathic skin lesions associated with homozygous protein C deficiency. (17300652)
2007
12
Protein C deficiency: podiatric medical relevance and case report. (16166470)
2005
13
Homozygous protein C deficiency with purpura fulminans: report of a new case and a description of a novel mutation. (12695756)
2003
14
Protein-c deficiency in a patient with Legg-CalvAc-Perthes disease and recurrent deep vein thrombosis. (12046918)
2002
15
Protein C deficiency presenting a thalamic hemorrhage. (12098199)
2002
16
Acute myocardial infarction: a rare complication of protein C deficiency. (11294179)
2001
17
Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred. (11204593)
2001
18
The G20210A prothrombin polymorphism is not associated with increased thromboembolic risk in a large protein C deficient kindred. (10744139)
2000
19
Thrombosis of lienal vein and acute consumptive coagulopathy following warfarin administration in a patient with severe protein C deficiency. (10997333)
2000
20
Inherited protein C deficiency, protein S deficiency and hyperhomocysteinaemia in a patient with hereditary spherocytosis. (10448604)
1999
21
Homozygous protein C deficiency: description of a new mutation and successful treatment with low molecular weight heparin. (9569188)
1998
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. (9553065)
1998
23
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
24
Priapism in a patient with protein C deficiency. (9352148)
1997
25
Combined factor IX and protein C deficiency in a child: thrombogenic effects of two factor IX concentrates. (7847325)
1995
26
Childhood stroke at three years of age with transient protein C deficiency, familial antiphospholipid antibodies and F. XII deficiency--a family study. (7770125)
1994
27
Protein C concentrate in the treatment of warfarin-induced skin necrosis in the protein C deficiency. (8029804)
1994
28
Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular mechanism. (8128429)
1993
29
Epidemic meningococcemia and purpura fulminans with induced protein C deficiency. (8399877)
1993
30
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
31
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
32
Treatment of homozygous protein C deficiency and neonatal purpura fulminans with a purified protein C concentrate. (1944440)
1991
33
Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene. (1675129)
1991
34
Deep vein thrombophlebitis of a leg in a young female with heterozygous protein C deficiency taking oral contraceptives. (1703114)
1990
35
Homozygous protein C deficiency in two siblings. (2206858)
1990
36
Idiopathic portal hypertension (noncirrhotic portal fibrosis), thrombosis in portal venous system and protein C deficiency. (2807175)
1989
37
Hereditary protein C deficiency--the first symptomatic family in Singapore. (2802509)
1989
38
Protein C deficiency and thrombotic complications after liver transplantation in children. (2562861)
1989
39
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
40
Severe protein C deficiency in a newborn. (3239711)
1988
41
Protein C deficiency and the risk of venous thrombosis. (3352682)
1988
42
Homozygous protein C deficiency: observations on the nature of the molecular abnormality and the effectiveness of warfarin therapy. (3340476)
1988
43
Unusual venous thrombosis associated with protein C deficiency. (3346957)
1988
44
Protein C deficiency in splanchnic venous thrombosis. (2955698)
1987
45
Coumarin prophylaxis for fulminant purpura syndrome due to homozygous protein C deficiency. (2857966)
1985
46
Severe protein C deficiency in congenital thrombotic disease--description of an immunoenzymological assay for protein C determination. (3901386)
1985
47
Defibrination during warfarin therapy in a man with protein C deficiency. (3839606)
1985
48
Congenital protein C deficiency and thrombotic disease in nine French families. (6437521)
1984
49
Successful progressive anticoagulation in a severe protein C deficiency and previous skin necrosis at the initiation of oral anticoagulant treatment. (6547009)
1984
50
Protein C deficiency in two Austrian families. (6665761)
1983

Variations for Protein C Deficiency

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Expression for genes affiliated with Protein C Deficiency

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 54QIAGEN, 31KEGG, 39NCBI BioSystems Database, 55R&D Systems
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Compounds for genes affiliated with Protein C Deficiency

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46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR, 3BitterDB, 25HMDB
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Compounds related to Protein C Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1gamma-carboxyglutamic acid469.9PROC, F5
2inogatran469.6F5, SERPINC1
3ecarin469.6SERPINC1, F5
4hirugen469.6SERPINC1, F5
5spectrozyme469.6F5, SERPINC1
6danaparoid469.6SERPINC1, F5
7nafamostat mesilate469.6SERPINC1, F5
8ancrod469.6F5, SERPINC1
9ximelagatran46 1210.6F5, SERPINC1
10heparinoids469.5SERPINC1, F5
11fondaparinux469.5F5, SERPINC1
12bivalirudin46 1210.5F5, SERPINC1
13desogestrel46 1210.5SERPINC1, F5
14argatroban46 1210.5SERPINC1, F5
15gabexate mesilate469.5SERPINC1, F5
16protamine sulfate469.5F5, SERPINC1
17gestodene46 1210.5F5, SERPINC1
18eltrombopag52 1210.5F5, SERPINC1
19benzamidine46 1210.5SERPINC1, F5
20epsilon aminocaproic acid469.5HRG, SERPINC1
21ristocetin469.5F5, SERPINC1
22tibolone469.5SERPINC1, F5
23levonorgestrel46 62 30 1212.5F5, SERPINC1
24coumarin46 3 52 2512.4F5, SERPINC1
25desmopressin46 62 30 1212.4F5, SERPINC1
26fluorescein46 1210.4SERPINC1, F5
27hirudin469.4F5, SERPINC1
28phospholipid469.4SFTPC, PROC, F5
29protamine469.4F5, SERPINC1
30raloxifene46 52 30 1212.4F5, SERPINC1
31aprotinin46 1210.3F5, SERPINC1
32copper46 2510.3HRG, F5
33progestin469.3F5, SERPINC1
34polyethylene glycol469.3SERPINC1, F5
35homocysteine46 2510.2F5, SERPINC1
36warfarin46 52 25 1212.2SERPINC1, PROC, F5
37citrate469.1SERPINC1, F5
38folate469.1F5, SERPINC1
39dermatan sulfate469.1HRG, F5, SERPINC1
40kininogen469.1HRG, F5, SERPINC1
41dextran sulfate469.0F5, SERPINC1, CFP
42ascorbic acid46 259.9CFP, SERPINC1, F5
43polysaccharide468.8F5, SERPINC1, CFP
44heparan sulfate46 259.8HRG, SERPINC1
45vegf468.8F5, SERPINC1, SFTPC
46cysteine468.7HRG, F5, CFP, SFTPC
47arginine468.5HRG, F5, SERPINC1, SFTPC
48serine468.4SERPINC1, PROC, F5, HRG
49fibrinogen468.2HRG, F5, PROC, SERPINC1, SFTPC
50heparin46 30 25 1211.0CFP, SERPINC1, PROC, F5, HRG

GO Terms for genes affiliated with Protein C Deficiency

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17Gene Ontology
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Cellular components related to Protein C Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.1HRG, F5
2blood microparticleGO:0725629.1HRG, SERPINC1
3extracellular spaceGO:0056158.0SFTPC, CFP, SERPINC1, F5
4extracellular regionGO:0055767.6HRG, F5, PROC, SERPINC1, CFP

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

idNameGO IDScoreTop Affiliating Genes
1platelet degranulationGO:0025769.4HRG, F5
2blood coagulationGO:0075967.9HRG, F5, PROC, SERPINC1

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.5F5, PROC
2serine-type endopeptidase inhibitor activityGO:0048679.0HRG, SERPINC1
3heparin bindingGO:0082018.8HRG, SERPINC1

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet