MCID: PRT011
MIFTS: 54

Protein C Deficiency malady

Genetic diseases, Rare diseases, Bone diseases, Blood diseases categories

Summaries for Protein C Deficiency

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NIH Rare Diseases:41 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 congenital protein c deficiency, is related to purpura and budd-chiari syndrome, and has symptoms including thin skin, subcutaneous hemorrhage and thrombophlebitis. 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, bone and liver, 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: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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Protein C Deficiency, Aliases & Descriptions:

Name: Protein C Deficiency 9 63 41 21 11 43 60
Hereditary Thrombophilia Due to Congenital Protein C Deficiency 41 47
Hereditary Thrombophilia Due to Protein C Deficiency 41 21
Hereditary Thrombophilia Due to Pc Deficiency 41 47
 
Protein C 10 20
Congenital Thrombotic Disease, Due to Protein C Deficiency 60
Proc Deficiency 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
hereditary thrombophilia due to congenital protein c deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:3756
MeSH33 D020151
SNOMED-CT55 76407009
Orphanet47 745
ICD10 via Orphanet26 D68.2

Related Diseases for Protein C Deficiency

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

(show top 50)    (show all 270)
idRelated DiseaseScoreTop Affiliating Genes
1purpura31.5SERPINC1
2budd-chiari syndrome30.6SERPINC1, F5
3central retinal vein occlusion30.6F5
4portal vein thrombosis30.6SERPINC1, F5
5thrombophilia due to activated protein c resistance30.6SERPINC1, F5
6pulmonary embolism30.5F5, SERPINC1
7protein s deficiency30.4SERPINC1, F5
8myocardial infarction30.4SERPINC1, F5, HRG
9afibrinogenemia30.4F5, CFP
10coronary thrombosis30.4SERPINC1
11acute respiratory distress syndrome30.4F5, SFTPC
12factor v leiden thrombophilia30.3F5, SERPINC1
13sagittal sinus thrombosis30.3SERPINC1, F5
14eclampsia30.3SERPINC1
15respiratory failure30.3SERPINC1, SFTPC
16lupus erythematosus30.3F5, SERPINC1, CFP
17acute myocardial infarction30.2HRG, SERPINC1
18placental abruption30.2SERPINC1, F5
19thrombophilia30.2HRG, F5, PROC, SERPINC1
20meningococcemia30.1F5, SERPINC1
21retinal vein occlusion30.1SERPINC1, F5
22disseminated intravascular coagulation30.1SERPINC1, PROC, F5
23dysfibrinogenemia30.1SERPINC1, F5
24vascular disease30.0F5, SERPINC1
25hyperhomocysteinemia30.0HRG, F5, SERPINC1
26hemophilia a30.0F5, SERPINC1
27antiphospholipid syndrome29.9SERPINC1, F5
28legg-calve-perthes disease29.9SERPINC1, F5
29liver disease29.8SERPINC1, F5
30thrombocytopenia29.8F5, SERPINC1
31endotheliitis11.0
32hypertrophic cardiomyopathy10.7
33cerebritis10.7
34ischemia10.4
35branch retinal artery occlusion10.4F5
36thrombophilia due to protein c deficiency, autosomal dominant10.4
37portal hypertension10.4
38thrombophilia due to protein c deficiency, autosomal recessive10.4
39leukemia10.4
40systemic lupus erythematosus10.4
41inflammatory bowel disease10.4
42pneumonia10.3
43retinitis10.3
44prostatitis10.3
45sneddon syndrome10.3SERPINC1
46acute pancreatitis10.3
47splenic infarction10.3
48priapism10.3
49hereditary spherocytosis10.3
50chickenpox10.3

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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Symptoms:

 47 (show all 11)
  • autosomal recessive inheritance
  • skin hypoplasia/aplasia/atrophy
  • thin skin
  • purpura/petichiae
  • venous thrombosis/phlebitis/thrombophlebitis
  • chronic skin infection/ulcerations/ulcers/cancrum
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • pulmonary thromboembolism
  • varices/varicous veins/venous insufficiency
  • gangrena/necrosis
  • cerebral vascular anomalies

HPO human phenotypes related to Protein C Deficiency:

(show all 9)
id Description Frequency HPO Source Accession
1 thin skin typical (50%) HP:0000963
2 subcutaneous hemorrhage typical (50%) HP:0001933
3 thrombophlebitis typical (50%) HP:0004418
4 abnormality of skin pigmentation occasional (7.5%) HP:0001000
5 pulmonary embolism occasional (7.5%) HP:0002204
6 venous insufficiency occasional (7.5%) HP:0005293
7 abnormality of the cerebral vasculature occasional (7.5%) HP:0100659
8 gangrene occasional (7.5%) HP:0100758
9 skin ulcer occasional (7.5%) HP:0200042

Drugs & Therapeutics for Protein C Deficiency

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Drug clinical trials:

Search ClinicalTrials for Protein C Deficiency

Search NIH Clinical Center for Protein C Deficiency

Genetic Tests for Protein C Deficiency

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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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MalaCards organs/tissues related to Protein C Deficiency:

31
Skin, Bone, Liver, Bone marrow, Brain, Heart, Lung, Breast, Testes, Myeloid, Eye, Uterus, Monocytes

Animal Models for Protein C Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Protein C Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.6PROC, SFTPC, CFP, SERPINC1, F5
2MP:00107687.6SFTPC, CFP, SERPINC1, PROC, F5
3MP:00053877.5SFTPC, HRG, PROC, SERPINC1, CFP
4MP:00053767.3CFP, SERPINC1, PROC, F5, HRG

Publications for Protein C Deficiency

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Articles related to Protein C Deficiency:

(show top 50)    (show all 519)
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
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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Clinvar genetic disease variations for Protein C Deficiency:

6 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1PROCNM_000312.3(PROC): c.1042C> T (p.Arg348Ter)single nucleotide variantPathogenicrs121918141GRCh37Chr 2, 128186178: 128186178
2PROCNM_000312.3(PROC): c.1332G> C (p.Trp444Cys)single nucleotide variantPathogenicrs121918142GRCh37Chr 2, 128186468: 128186468
3PROCPROC, ARG12TRPundetermined variantPathogenic
4PROCNM_000312.3(PROC): c.631C> T (p.Arg211Trp)single nucleotide variantPathogenicrs121918143GRCh37Chr 2, 128183756: 128183756
5PROCNM_000312.3(PROC): c.902C> T (p.Ala301Val)single nucleotide variantPathogenicrs121918144GRCh37Chr 2, 128186038: 128186038
6PROCNM_000312.3(PROC): c.629C> T (p.Pro210Leu)single nucleotide variantPathogenicrs121918145GRCh37Chr 2, 128183754: 128183754
7PROCNM_000312.3(PROC): c.925G> A (p.Ala309Thr)single nucleotide variantPathogenicrs121918146GRCh37Chr 2, 128186061: 128186061
8PROCNM_000312.3(PROC): c.1027G> A (p.Gly343Ser)single nucleotide variantPathogenicrs121918147GRCh37Chr 2, 128186163: 128186163
9PROCNM_000312.3(PROC): c.185A> C (p.Glu62Ala)single nucleotide variantPathogenicrs121918148GRCh37Chr 2, 128178973: 128178973
10PROCNM_000312.3(PROC): c.226G> A (p.Val76Met)single nucleotide variantPathogenicrs121918149GRCh37Chr 2, 128179014: 128179014
11PROCNM_000312.3(PROC): c.1000G> A (p.Gly334Ser)single nucleotide variantPathogenicrs121918150GRCh37Chr 2, 128186136: 128186136
12PROCNM_000312.3(PROC): c.866C> T (p.Pro289Leu)single nucleotide variantPathogenicrs121918151GRCh37Chr 2, 128186002: 128186002
13PROCNM_000312.3(PROC): c.658C> T (p.Arg220Trp)single nucleotide variantPathogenicrs121918152GRCh37Chr 2, 128183783: 128183783
14PROCNM_000312.3(PROC): c.659G> A (p.Arg220Gln)single nucleotide variantPathogenicrs121918153GRCh37Chr 2, 128183784: 128183784
15PROCPROC, 1-BP DEL, 8857GdeletionPathogenic
16PROCNM_000312.3(PROC): c.814C> T (p.Arg272Cys)single nucleotide variantPathogenicrs121918154GRCh37Chr 2, 128185950: 128185950
17PROCPROC, 2-BP INS, 6139TTinsertionPathogenic
18PROCPROC, IVS7DS, C-T, +9single nucleotide variantPathogenic
19PROCNM_000312.3(PROC): c.678G> C (p.Gln226His)single nucleotide variantPathogenicrs121918155GRCh37Chr 2, 128183803: 128183803
20PROCNM_000312.3(PROC): c.793C> T (p.Leu265Phe)single nucleotide variantPathogenicrs121918156GRCh37Chr 2, 128184795: 128184795
21PROCNM_000312.3(PROC): c.1335C> G (p.Ile445Met)single nucleotide variantPathogenicrs121918157GRCh37Chr 2, 128186471: 128186471
22PROCNM_000312.3(PROC): c.1015G> A (p.Val339Met)single nucleotide variantPathogenicrs121918158GRCh37Chr 2, 128186151: 128186151
23PROCPROC, -14T-Csingle nucleotide variantPathogenic
24PROCNM_000312.3(PROC): c.446A> C (p.His149Pro)single nucleotide variantPathogenicrs121918159GRCh37Chr 2, 128180895: 128180895
25PROCNM_000312.3(PROC): c.935C> T (p.Ser312Leu)single nucleotide variantPathogenicrs121918160GRCh37Chr 2, 128186071: 128186071

Expression for genes affiliated with Protein C Deficiency

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Search GEO for disease gene expression data for Protein C Deficiency.

Pathways for genes affiliated with Protein C Deficiency

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Compounds for genes affiliated with Protein C Deficiency

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Compounds related to Protein C Deficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1gamma-carboxyglutamic acid439.9PROC, F5
2inogatran439.6F5, SERPINC1
3ecarin439.6SERPINC1, F5
4hirugen439.6SERPINC1, F5
5spectrozyme439.6F5, SERPINC1
6danaparoid439.6SERPINC1, F5
7nafamostat mesilate439.6SERPINC1, F5
8ancrod439.6F5, SERPINC1
9ximelagatran43 1210.6F5, SERPINC1
10heparinoids439.5SERPINC1, F5
11fondaparinux439.5F5, SERPINC1
12bivalirudin43 1210.5F5, SERPINC1
13desogestrel43 1210.5SERPINC1, F5
14argatroban43 1210.5SERPINC1, F5
15gabexate mesilate439.5SERPINC1, F5
16protamine sulfate439.5F5, SERPINC1
17gestodene43 1210.5F5, SERPINC1
18eltrombopag49 1210.5F5, SERPINC1
19benzamidine43 1210.5SERPINC1, F5
20epsilon aminocaproic acid439.5HRG, SERPINC1
21ristocetin439.5F5, SERPINC1
22tibolone439.5SERPINC1, F5
23levonorgestrel43 59 28 1212.5F5, SERPINC1
24coumarin43 2 49 2412.4F5, SERPINC1
25desmopressin43 59 28 1212.4F5, SERPINC1
26fluorescein43 1210.4SERPINC1, F5
27hirudin439.4F5, SERPINC1
28phospholipid439.4SFTPC, PROC, F5
29protamine439.4F5, SERPINC1
30raloxifene43 49 28 1212.4F5, SERPINC1
31aprotinin43 1210.3F5, SERPINC1
32copper43 2410.3HRG, F5
33progestin439.3F5, SERPINC1
34polyethylene glycol439.3SERPINC1, F5
35homocysteine43 2410.2F5, SERPINC1
36warfarin43 49 24 1212.2SERPINC1, PROC, F5
37citrate439.1SERPINC1, F5
38folate439.1F5, SERPINC1
39dermatan sulfate439.1HRG, F5, SERPINC1
40kininogen439.1HRG, F5, SERPINC1
41dextran sulfate439.0F5, SERPINC1, CFP
42ascorbic acid43 249.9CFP, SERPINC1, F5
43polysaccharide438.8F5, SERPINC1, CFP
44heparan sulfate43 249.8HRG, SERPINC1
45vegf438.8F5, SERPINC1, SFTPC
46cysteine438.7HRG, F5, CFP, SFTPC
47arginine438.5HRG, F5, SERPINC1, SFTPC
48serine438.4SERPINC1, PROC, F5, HRG
49fibrinogen438.2HRG, F5, PROC, SERPINC1, SFTPC
50heparin43 28 24 1211.0CFP, SERPINC1, PROC, F5, HRG

GO Terms for genes affiliated with Protein C Deficiency

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Cellular components related to Protein C Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.1HRG, F5
2blood microparticleGO:00725629.1HRG, SERPINC1
3extracellular spaceGO:00056158.0SFTPC, CFP, SERPINC1, F5
4extracellular regionGO:00055767.6HRG, F5, PROC, SERPINC1, CFP

Biological processes related to Protein C Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet degranulationGO:00025769.4HRG, F5
2blood coagulationGO:00075967.9HRG, F5, PROC, SERPINC1

Molecular functions related to Protein C Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.5F5, PROC
2serine-type endopeptidase inhibitor activityGO:00048679.0HRG, SERPINC1
3heparin bindingGO:00082018.8HRG, SERPINC1

Products for genes affiliated with Protein C Deficiency

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  • Antibodies
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Sources for Protein C Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet