Protein C Deficiency

Common Name(s)

Protein C Deficiency

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Protein C Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Protein C Deficiency" returned 122 free, full-text research articles on human participants. First 3 results:

Protein C and protein S deficiency - practical diagnostic issues.
 

Author(s): Ewa Wypasek, Anetta Undas

Journal: Adv Clin Exp Med. ;22(4):459-67.

 

Protein C (PC) and protein S (PS) are vitamin K-dependent glycoproteins, that act as natural anticoagulants. The proteolytic activation of PC by thrombin occurs on the surface of endothelial cells and involves thrombomodulin and endothelial PC receptor. In the presence of PS, phospholipids ...

Last Updated: 29 Aug 2013

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Edema and ulcers on the legs and dilated abdominal veins caused by thromboembolism of inferior vena cava in a patient with protein C deficiency.
 

Author(s): Hideo Kawano, Chika Ohata, Fumitake Ono, Norito Ishii, Takahiro Hamada, Takekuni Nakama, Minao Furumura, Daisuke Tsuruta, Takashi Hashimoto

Journal: Indian J Dermatol Venereol Leprol. ;79(5):725.

 

Last Updated: 26 Aug 2013

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Left main coronary artery thrombus resulting from combined protein C and S deficiency.
 

Author(s): Muhammet Rasit Sayin

Journal: Intern. Med.. 2013 ;52(6):697.

 

Last Updated: 18 Mar 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Protein C Deficiency" returned 3 free, full-text review articles on human participants. First 3 results:

Long-term subcutaneous protein C replacement in neonatal severe protein C deficiency.
 

Author(s): Ellen H M de Kort, Sabine L A G Vrancken, Arno F J van Heijst, Mathijs Binkhorst, Marcel P J M Cuppen, Paul P T Brons

Journal: Pediatrics. 2011 May;127(5):e1338-42.

 

We describe here the case of a boy who presented 2 days after birth with purpura fulminans on his feet and scalp. Laboratory investigations revealed signs of disseminated intravascular coagulation. An underlying coagulation disorder was suspected, and therapy with recombinant tissue ...

Last Updated: 2 May 2011

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Idiopathic portal hypertension in a patient with mixed connective tissue disease and protein C deficiency.
 

Author(s): Yoshiro Horai, Tomoya Miyamura, Akie Hirata, Masataka Nakamura, Soichiro Takahama, Hitoshi Ando, Rumi Minami, Masahiro Yamamoto, Eiichi Suematsu

Journal: Intern. Med.. 2010 ;49(18):2013-6.

 

We report a 29-year-old woman with a 2.5 year history of mixed connective tissue disease (MCTD) who developed idiopathic portal hypertension (IPH) and thrombocytopenia as a result of hypersplenism. She had recurrent esophagogastric variceal rupture. Hematological examination also ...

Last Updated: 17 Sep 2010

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Protein C deficiency in a family with thromboembolism and identified gene mutations.
 

Author(s): Sakuo Hoshi, Minako Hijikata, Yuuki Togashi, Tetsuji Aoyagi, Chiyoko Kono, Yoshihito Yamada, Hiroko Amano, Naoto Keicho, Tetsuo Yamaguchi

Journal: Intern. Med.. 2007 ;46(13):997-1003.

 

Protein C is the central component of the major anti-thrombotic regulatory system, and individuals with hereditary protein C deficiency tend to have an increased risk of thromboembolism. During the last several years, mutations causing protein C deficiency have been identified. In ...

Last Updated: 2 Jul 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Epidemiology of Surfactant Protein-B Deficiency
 

Status: Recruiting

Condition Summary: Lung Diseases; Respiratory Distress Syndrome, Newborn; Surfactant Deficiency

 

Last Updated: 22 Apr 2013

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Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Disease
 

Status: Available

Condition Summary: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency; Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2); Mitochondrial Trifunctional Protein Deficiency; Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogen Storage Disorders; Pyruvate Carboxylase Deficiency, Type B; Acyl-coA Dehydrogenase, Type 9

 

Last Updated: 7 Oct 2013

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The Effect of HIV Tat Protein on HCV Replication in an In-vitro Model System
 

Status: Recruiting

Condition Summary: Human Immunodeficiency Virus (HIV); Hepatitis C, Chronic

 

Last Updated: 3 Jan 2014

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