MCID: PRT011
MIFTS: 59

Protein C Deficiency malady

Blood category

Summaries for Protein C Deficiency

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 protein s deficiency 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 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 bone marrow, whole blood and brain, 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:64 Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first... more...

Aliases & Classifications for Protein C Deficiency

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

protein c deficiency 8 64 43 21 10 45 61
hereditary thrombophilia due to protein c deficiency 43 21
protein c 9 20
congenital thrombotic disease, due to protein c deficiency 61
proc deficiency 21


External Ids:

Disease Ontology8 DOID:3756
SNOMED-CT57 76407009
MeSH35 D020151

Related Diseases for Protein C Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 298)
idRelated DiseaseScoreTop Affiliating Genes
1protein s deficiency31.8F9, F5, SERPINC1
2venous thrombosis31.2F9, APOH, F5, MTHFR, PROCR, PROC
3purpura fulminans31.1F5, PROCR, PROC, SERPINC1
4thromboembolism30.9MTHFR, PROCR, PROC, HRG, F2, THBD
5thrombophilia30.6F2, THBD, SERPINA10, SERPIND1, SERPINE1, SERPINC1
6factor v deficiency30.6F5, F2
7prothrombin deficiency30.6APOH, F5, F2, SERPINC1
8portal vein thrombosis30.6F5, MTHFR, F2, SERPINC1
9acute myocardial infarction30.6HRG, THBD, SERPINE1, SERPINC1, SERPINF2
10systemic lupus erythematosus30.5APOH, PROCR, F2, CFP, THBD
11acute leukemia30.5MTHFR
12sepsis30.5CFP, SERPINF2
13thrombophlebitis30.4APOH
14stroke, ischemic30.4F5, F2
15sagittal sinus thrombosis30.4SERPINC1, F5
16pregnancy loss30.3APOH, F5, MTHFR, F2, SERPINC1
17vascular disease30.3APOH, F5, MTHFR, THBD, SERPINE1, SERPINC1
18coronary thrombosis30.2SERPINE1, SERPINC1
19afibrinogenemia30.2CFP, F2, F5
20antiphospholipid syndrome30.2SERPINC1, THBD, F2, APOH, F5, MTHFR
21hyperhomocysteinemia30.2F9, APOH, F5, MTHFR, HRG, F2
22coronary heart disease30.2MTHFR, PROCR, THBD, SERPINE1, SERPINC1, SERPINF2
23atherosclerosis30.2APOH, MTHFR, PROCR, THBD, SERPINE1, SERPINC1
24sickle cell disease30.1F9
25polycystic ovary syndrome30.1SERPINE1
26placental abruption30.1SERPINC1, MTHFR, F5
27blood protein disease30.1F5, MTHFR, F2, SERPINC1
28peripheral vascular disease30.1THBD, MTHFR
29arthritis30.0SERPINA4
30mondor disease30.0F5, APOH
31central retinal vein occlusion30.0APOH, F5, MTHFR
32deficiency anemia30.0F2, F9
33meningococcemia30.0F5, PROCR, THBD, SERPINC1
34thrombocytosis30.0F2, THBD, SERPINC1, SERPINF2
35septic shock30.0F5, CFP, THBD, SERPINE1, SERPINC1
36dysfibrinogenemia30.0F5, F2, THBD, SERPIND1, SERPINC1
37thrombocytopenia30.0SERPINC1, THBD, F2, F5, APOH, F9
38factor v leiden thrombophilia30.0F9, F5, F2, CFP, THBD, SERPIND1
39ovarian hyperstimulation syndrome30.0F5
40factor viii deficiency30.0F5, F9
41homocysteinemia30.0MTHFR, F5
42eclampsia30.0SERPINC1, THBD, MTHFR
43factor vii deficiency30.0F9, F5, F2, SERPINC1
44alzheimer's disease30.0SFTPC
45coronary artery disease,30.0SERPINE1, THBD, MTHFR, F9
46patent foramen ovale29.8F5
47polycythemia vera29.8THBD
48hepatitis a29.8F2
49hepatitis c29.8F2, F9
50legg-calve-perthes disease29.8SERPINC1, F5

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



Diseases related to protein c deficiency

Clinical Features for Protein C Deficiency

Drugs & Therapeutics for Protein C Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests
See all sources

Genetic tests related to Protein C Deficiency:

id Genetic test Affiliating Genes
1 Protein C Deficiency20 PROC

Anatomical Context for Protein C Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Protein C Deficiency:

33
Bone marrow, Whole blood, Brain, Retina, Heart, Skeletal muscle, Small intestine, Colon, Kidney, Liver, Lung, Thyroid, Breast, Skin, Uterus, Myeloid, Monocytes, T cells, B lymphoblasts, B cells, Endothelial, Fetal brain, Fetal liver, Fetal lung, Fetal thyroid, Pituitary, Uterus corpus

Animal Models for Protein C Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Protein C Deficiency

Sources:
51PubMed
See all sources

Articles related to Protein C Deficiency:

(show top 50)    (show all 975)
idTitleAuthorsYear
1
Proteinase 3 activity in sputum from subjects with alpha-1-antitrypsin deficiency and COPD. (22936713)
2013
2
Vitamin D deficiency does not predict progression of coronary artery calcium, carotid intima-media thickness or high-sensitivity C-reactive protein in systemic lupus erythematosus. (23955647)
2013
3
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency. (23430487)
2013
4
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. (23931755)
2013
5
Mild case of D-bifunctional protein deficiency associated with novel gene mutations. (22507161)
2012
6
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. (20972249)
2011
7
Lamin C protein deficiency in the primary fibroblasts from a new laminopathy case with ovarian cystadenoma. (20819672)
2010
8
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
9
Deficiency of niemann-pick type C-1 protein impairs release of human immunodeficiency virus type 1 and results in Gag accumulation in late endosomal/lysosomal compartments. (19474101)
2009
10
First case of protein S deficiency due to a translocation t(3;21)(q11.2;q22). (19404554)
2009
11
Severe congenital protein C deficiency: description of a new mutation and prophylactic protein C therapy and in vivo pharmacokinetics. (18376272)
2008
12
Protein S deficiency with homozygous factor V Leiden mutation in central retinal vein occlusion. (17641719)
2007
13
Hereditary protein C deficiency: a case report. (17454772)
2007
14
Intracardiac thrombus and pulmonary embolism with cavitation and pneumomediastinum in a patient with protein S deficiency. (16915068)
2006
15
Diagnosis of idiopathic growth hormone deficiency: contributions of data on the acid-labile subunit, insulin-like growth factor (IGF)-I and-II, and IGF binding protein-3. (16759033)
2006
16
Protein C deficiency as a cause of simultaneous acute thrombosis of the superior mesenteric vein and inferior vena cava with jejunal infarction. (15800500)
2005
17
A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy. (12971428)
2003
18
Use of aprotinin during cardiopulmonary bypass in a patient with protein C deficiency. (12680495)
2003
19
Deficiency of a 180-kDa extracellular matrix protein in Fukuyama type congenital muscular dystrophy skeletal muscle. (11738352)
2002
20
Neuronal deficiency of presenilin 1 inhibits amyloid plaque formation and corrects hippocampal long-term potentiation but not a cognitive defect of amyloid precursor protein [V717I] transgenic mice. (11978821)
2002
21
Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon. (11313242)
2001
22
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. (10712202)
2000
23
Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activity. (10801056)
2000
24
Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy. (10488719)
1999
25
An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4. (9682215)
1998
26
Combined heterozygous deficiency of the classical complement pathway proteins C2 and C4. (9083894)
1997
27
Acquired free protein S deficiency in children with steroid resistant nephrosis. (8726222)
1996
28
Calciphylaxis in a haemodialysis patient: functional protein S deficiency? (8918640)
1996
29
Gene mutations in 21 unrelated cases of phenotypic heterozygous protein C deficiency and thrombosis. Protein C Study Group. (8972002)
1996
30
Vitamin A deficiency and protein-energy malnutrition in a sample of pre-school age children in the Kivu Province in Zaire. (8862482)
1996
31
Combined factor IX and protein C deficiency in a child: thrombogenic effects of two factor IX concentrates. (7847325)
1995
32
Molecular biological analysis of hereditary thrombophilia--genetic characterization of protein S deficiency]. (7783333)
1995
33
Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease. (7482396)
1995
34
Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency. The French INSERM Network on Molecular Abnormalities Responsible for Protein C and Protein S deficiencies. (7670104)
1995
35
Acquired protein S deficiency with primary antiphospholipid syndrome and recurrent thrombotic events: report of a case. (8869229)
1995
36
Clinically silent pulmonary embolism due to transient protein S deficiency. (8565357)
1995
37
Compound heterozygous protein C deficiency caused by two mutations, Arg-178 to Gln and Cys-331 to Arg, leading to impaired secretion of mutant protein C. (7740447)
1994
38
Protein S deficiency in pregnancy: a case report. (8420317)
1993
39
A case of portal vein thrombosis associated with protein S deficiency. (8409344)
1993
40
Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease. (8370580)
1993
41
Severe acquired protein C deficiency in purpura fulminans associated with disseminated intravascular coagulation: treatment with protein C concentrate. (8424021)
1993
42
Purpura fulminans due to protein S deficiency following chickenpox. (1386247)
1992
43
Late-onset homozygous protein C deficiency manifesting cerebral infarction as the first symptom at age 27. (1333307)
1992
44
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. (1371116)
1992
45
Heterozygous protein C deficiency associated with multiple congenital hemangiomas--a case report. (2014924)
1991
46
Hereditary protein C deficiency: a review of the genetics, clinical presentation, diagnosis and treatment. (2103316)
1990
47
Temporary protein C deficiency associated with cerebral arterial thrombosis in childhood. (3183840)
1988
48
Protein S deficiency in sickle cell anemia. (2966224)
1988
49
Purification of nonspecific lipid transfer protein (sterol carrier protein 2) from human liver and its deficiency in livers from patients with cerebro-hepato-renal (Zellweger) syndrome. (3555624)
1987
50
Effects of pyridoxine deficiency and dietary cholesterol supplementation in the chick on plasma protein-bound iodine, glutamic-oxalacetic transaminase activity, and 14-C-acetate incorporation into cholesterol. (4164049)
1966

Genetic Variations for Protein C Deficiency

Expression for genes affiliated with Protein C Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 50PharmGKB, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 30KEGG, 53R&D Systems
See all sources

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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 2BitterDB, 60Tocris Bioscience, 29IUPHAR
See all sources

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

(show top 50)    (show all 130)
idCompoundScoreTop Affiliating Genes
1coumarins4510.6APOH, F9
2warfarin45 50 11 2413.5F9, APOH, PROC, SERPINC1
3hirugen4510.4F5, THBD, F2, SERPINC1
4ximelagatran45 1111.4SERPINC1, THBD, F2, F5
5inogatran4510.4SERPINC1, F2, F5
6heparinoids4510.4F5, F2, SERPINC1, THBD
7bivalirudin45 1111.4F5, THBD, F2, SERPINC1
8kaolin4510.4F9, APOH, F5, F2
9argatroban45 1111.4F5, SERPINC1, THBD, F2
10fibrinopeptide a4510.4F2, SERPINF2, SERPINC1, THBD
11dextran sulfate4510.3F9, APOH, F5, CFP
12ecarin4510.3SERPINC1, F2, F5
13benzamidine45 1111.3THBD, SERPINC1, F5, F9
1411-dehydrothromboxane b24510.3THBD, F2, APOH, SERPINE1
15tranexamic acid45 1111.3SERPINC1, F2, F9, SERPINE1
16fondaparinux4510.3F5, F9, SERPINC1, THBD, F2
17spectrozyme4510.3SERPINC1, F5, F2
18ancrod4510.3F2, THBD, F5, SERPINE1, SERPINC1
19Drotrecogin alfa1110.3SERPINE1, F5, THBD, F2, PROCR
20ristocetin4510.3F9, F5, F2, SERPINC1, SERPINF2
21danaparoid4510.2F2, F5, SERPINC1
22phosphatidylethanolamine45 1111.2APOH, PROCR, F2, F5, F9
23gamma-carboxyglutamic acid4510.2F5, F9, PROCR, F2, THBD, PROC
24batroxobin4510.2F2, SERPINE1, F5
25coumarin45 2 50 2413.2SERPINC1, F5, F2, F9
26epsilon aminocaproic acid4510.1HRG, SERPINF2, SERPINC1, SERPINE1, F9, F2
27pge14510.1F5, APOH, F2, THBD, SERPINE1
28organon4510.1F2, SERPINC1, F9
29eaca4510.1SERPINE1, SERPINC1, SERPINF2
30phosphatidylcholine4510.1APOH, SFTPC, F2, THBD, F5, F9
31dermatan sulfate4510.1THBD, SERPINC1, SERPIND1, HRG, F5, F9
32serine4510.1SERPINA4, F9, SERPIND1, HRG, SERPINA10, PROCR
33desmopressin45 60 29 1113.0SERPINC1, F9, F5, F2, THBD, SERPINF2
34cyclophosphamide45 50 1112.0APOH, THBD, SERPINE1, F9, MTHFR, F5
35endotoxin4510.0F9, APOH, SERPINF2, SERPINE1, THBD, PROCR
36aprotinin45 1111.0SERPINF2, SERPINE1, SERPINA4, THBD, F5, F9
37aspirin45 50 29 2413.0F2, SERPINC1, APOH, SERPINE1, F5, MTHFR
38chloramphenicol45 2 1111.9FOXM1, F9, SERPINE1, SERPINC1, SFTPC, THBD
39hirudin459.9SERPINF2, SERPINC1, THBD, F2, PROCR, F5
40homocysteine45 2410.9F9, APOH, F5, MTHFR, F2, THBD
41heparin45 29 11 2412.8F9, APOH, MTHFR, HRG, CFP, SERPINA4
42creatinine459.8THBD, MTHFR, APOH, SERPINC1, F5, F9
43phospholipid459.8F5, F9, SFTPC, APOH, THBD, F2
44p-amino benzamidine459.8F9, SERPINE1, SERPINC1
45cholesterol45 29 11 2412.7SERPINE1, THBD, SERPINF2, SFTPC, APOH, F5
46vegf459.7PROCR, APOH, THBD, SFTPC, F5, SERPINC1
47kininogen459.6SERPINF2, SERPINC1, SERPINE1, SERPINA4, THBD, F2
48estrogen459.6SERPINE1, F2, MTHFR, F5, FOXM1, SERPINC1
49arginine459.4SERPINF2, HRG, F9, SFTPC, APOH, F5
50fibrinogen459.2SERPINE1, SERPINC1, SERPIND1, THBD, F2, HRG

GO Terms for genes affiliated with Protein C Deficiency

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Protein C Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet