MCID: PRT011
MIFTS: 56

Protein C Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories
Download this MalaCard

Summaries for Protein C Deficiency

About this section


Fully expand this MalaCard
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 based summary: 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.

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

Aliases & Classifications for Protein C Deficiency

About this section

Protein C Deficiency, Aliases & Descriptions:

Name: Protein C Deficiency 8 65 42 21 10 44 62
Hereditary Thrombophilia Due to Protein C Deficiency 42 21 62
Protein C 9 20
 
Congenital Thrombotic Disease, Due to Protein C Deficiency 62
Proc Deficiency 21


Classifications:

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


External Ids:

Disease Ontology8 DOID:3756
SNOMED-CT57 76407009
MeSH34 D020151

Related Diseases for Protein C Deficiency

About this section

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

(show top 50)    (show all 284)
idRelated DiseaseScoreTop Affiliating Genes
1purpura31.5SERPINC1
2venous thrombosis30.8SERPINC1, HRG, F5, PROC
3central retinal vein occlusion30.7F5
4portal vein thrombosis30.6SERPINC1, F5
5pulmonary embolism30.6F5, SERPINC1
6thromboembolism30.6F5, SERPINC1, PROC, HRG
7meningococcemia30.5SERPINC1, F5
8protein s deficiency30.5SERPINC1, F5
9myocardial infarction30.5SERPINC1, HRG, F5
10afibrinogenemia30.5F5, CFP
11coronary thrombosis30.4SERPINC1
12sagittal sinus thrombosis30.4SERPINC1, F5
13eclampsia30.4SERPINC1
14respiratory failure30.4SFTPC, SERPINC1
15sepsis30.3F5, PROC, SERPINC1
16lupus erythematosus30.3SERPINC1, F5, CFP
17placental abruption30.3SERPINC1, F5
18acute myocardial infarction30.3HRG, SERPINC1
19pregnancy loss30.3SERPINC1, F5
20factor viii deficiency30.2F5, SERPINC1
21thrombophilia30.2PROC, F5, SERPINC1, HRG
22retinal vein occlusion30.2SERPINC1, F5
23antithrombin iii deficiency30.2F5, SERPINC1
24disseminated intravascular coagulation30.1SERPINC1, F5, PROC
25dysfibrinogenemia30.1F5, SERPINC1
26factor v leiden thrombophilia30.1SERPINC1, F5, CFP
27vascular disease30.1SERPINC1, F5
28hyperhomocysteinemia30.1F5, HRG, SERPINC1
29antiphospholipid syndrome30.0SERPINC1, F5
30legg-calve-perthes disease29.9SERPINC1, F5
31thrombocytopenia29.8SERPINC1, F5
32septic shock29.8F5, SERPINC1, CFP
33endotheliitis11.1
34hypertrophic cardiomyopathy10.8
35cerebritis10.7
36hypertension10.6
37familial hypertrophic cardiomyopathy10.5
38ischemia10.4
39portal hypertension10.4
40branch retinal artery occlusion10.4F5
41systemic lupus erythematosus10.4
42inflammatory bowel disease10.4
43leukemia10.4
44thrombophilia due to protein c deficiency, autosomal dominant10.4
45acute pancreatitis10.4
46pneumonia10.4
47retinitis10.4
48venous thromboembolism10.4
49prostatitis10.3
50splenic infarction10.3

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



Diseases related to protein c deficiency

Symptoms for Protein C Deficiency

About this section

Drugs & Therapeutics for Protein C Deficiency

About this section

Drug clinical trials:

Search ClinicalTrials for Protein C Deficiency

Search NIH Clinical Center for Protein C Deficiency

Genetic Tests for Protein C Deficiency

About this section

Genetic tests related to Protein C Deficiency:

id Genetic test Affiliating Genes
1 Protein C Deficiency20 PROC

Anatomical Context for Protein C Deficiency

About this section

MalaCards organs/tissues related to Protein C Deficiency:

32
Skin, Liver, Bone marrow, Bone, Brain, Heart, Lung, Breast, Testes, Myeloid, Eye, Uterus, Monocytes

Animal Models for Protein C Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Protein C Deficiency:

36
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

About this section

Articles related to Protein C Deficiency:

(show top 50)    (show all 508)
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 prothrombotic phenotypes in familial protein C deficiency are differentiated by computational modeling of thrombin generation. (22984498)
2012
4
The phenotypic and genetic assessment of protein C deficiency. (22321166)
2012
5
An infant with aortoiliac thrombosis due to congenital protein C deficiency: anesthetic implications. (22986322)
2012
6
Association of protein C deficiency with heat stroke in cool environment. (23006420)
2010
7
Spontaneous right ventricular thrombus in a patient with active ulcerative colitis and protein C deficiency: a review with a case report. (20556925)
2010
8
Neonatal arterial iliac thrombosis in type-I protein C deficiency: a case report. (20211026)
2010
9
Definite diagnosis in Japanese patients with protein C deficiency by identification of causative PROC mutations. (19373522)
2009
10
Early-onset stroke in a patient with nasopharyngeal cancer associated with protein C deficiency. (19586834)
2009
11
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
12
Recurrent vasculopathic skin lesions associated with homozygous protein C deficiency. (17300652)
2007
13
Protein C deficiency: podiatric medical relevance and case report. (16166470)
2005
14
Homozygous protein C deficiency with purpura fulminans: report of a new case and a description of a novel mutation. (12695756)
2003
15
Protein-c deficiency in a patient with Legg-CalvAc-Perthes disease and recurrent deep vein thrombosis. (12046918)
2002
16
Protein C deficiency presenting a thalamic hemorrhage. (12098199)
2002
17
Acute myocardial infarction: a rare complication of protein C deficiency. (11294179)
2001
18
Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred. (11204593)
2001
19
The G20210A prothrombin polymorphism is not associated with increased thromboembolic risk in a large protein C deficient kindred. (10744139)
2000
20
Thrombosis of lienal vein and acute consumptive coagulopathy following warfarin administration in a patient with severe protein C deficiency. (10997333)
2000
21
Inherited protein C deficiency, protein S deficiency and hyperhomocysteinaemia in a patient with hereditary spherocytosis. (10448604)
1999
22
Homozygous protein C deficiency: description of a new mutation and successful treatment with low molecular weight heparin. (9569188)
1998
23
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
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
Priapism in a patient with protein C deficiency. (9352148)
1997
26
Combined factor IX and protein C deficiency in a child: thrombogenic effects of two factor IX concentrates. (7847325)
1995
27
Childhood stroke at three years of age with transient protein C deficiency, familial antiphospholipid antibodies and F. XII deficiency--a family study. (7770125)
1994
28
Protein C concentrate in the treatment of warfarin-induced skin necrosis in the protein C deficiency. (8029804)
1994
29
Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular mechanism. (8128429)
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

About this section

Expression for genes affiliated with Protein C Deficiency

About this section
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

About this section

Compounds for genes affiliated with Protein C Deficiency

About this section

Compounds related to Protein C Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1gamma-carboxyglutamic acid449.9PROC, F5
2inogatran449.6F5, SERPINC1
3ecarin449.6SERPINC1, F5
4hirugen449.6SERPINC1, F5
5spectrozyme449.6F5, SERPINC1
6danaparoid449.6SERPINC1, F5
7nafamostat mesilate449.6SERPINC1, F5
8ancrod449.6F5, SERPINC1
9ximelagatran44 1110.6F5, SERPINC1
10heparinoids449.5SERPINC1, F5
11fondaparinux449.5F5, SERPINC1
12bivalirudin44 1110.5F5, SERPINC1
13desogestrel44 1110.5SERPINC1, F5
14argatroban44 1110.5SERPINC1, F5
15gabexate mesilate449.5SERPINC1, F5
16protamine sulfate449.5F5, SERPINC1
17gestodene44 1110.5F5, SERPINC1
18eltrombopag50 1110.5F5, SERPINC1
19benzamidine44 1110.5SERPINC1, F5
20epsilon aminocaproic acid449.5HRG, SERPINC1
21ristocetin449.5F5, SERPINC1
22tibolone449.5SERPINC1, F5
23levonorgestrel44 61 28 1112.5F5, SERPINC1
24coumarin44 2 50 2412.4F5, SERPINC1
25desmopressin44 61 28 1112.4F5, SERPINC1
26fluorescein44 1110.4SERPINC1, F5
27hirudin449.4F5, SERPINC1
28phospholipid449.4SFTPC, PROC, F5
29protamine449.4F5, SERPINC1
30raloxifene44 50 28 1112.4F5, SERPINC1
31aprotinin44 1110.3F5, SERPINC1
32copper44 2410.3HRG, F5
33progestin449.3F5, SERPINC1
34polyethylene glycol449.3SERPINC1, F5
35homocysteine44 2410.2F5, SERPINC1
36warfarin44 50 24 1112.2SERPINC1, PROC, F5
37citrate449.1SERPINC1, F5
38folate449.1F5, SERPINC1
39dermatan sulfate449.1HRG, F5, SERPINC1
40kininogen449.1HRG, F5, SERPINC1
41dextran sulfate449.0F5, SERPINC1, CFP
42ascorbic acid44 249.9CFP, SERPINC1, F5
43polysaccharide448.8F5, SERPINC1, CFP
44heparan sulfate44 249.8HRG, SERPINC1
45vegf448.8F5, SERPINC1, SFTPC
46cysteine448.7HRG, F5, CFP, SFTPC
47arginine448.5HRG, F5, SERPINC1, SFTPC
48serine448.4SERPINC1, PROC, F5, HRG
49fibrinogen448.2HRG, F5, PROC, SERPINC1, SFTPC
50heparin44 28 24 1111.0CFP, SERPINC1, PROC, F5, HRG

GO Terms for genes affiliated with Protein C Deficiency

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Protein C Deficiency

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet