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 127 free, full-text research articles on human participants. First 3 results:

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
 

Author(s): Laura Melchionda, Tobias B Haack, Steven Hardy, Truus E M Abbink, Erika Fernandez-Vizarra, Eleonora Lamantea, Silvia Marchet, Lucia Morandi, Maurizio Moggio, Rosalba Carrozzo, Alessandra Torraco, Daria Diodato, Tim M Strom, Thomas Meitinger, Pinar Tekturk, Zuhal Yapici, Fathiya Al-Murshedi, René Stevens, Richard J Rodenburg, Costanza Lamperti, Anna Ardissone, Isabella Moroni, Graziella Uziel, Holger Prokisch, Robert W Taylor, Enrico Bertini, Marjo S van der Knaap, Daniele Ghezzi, Massimo Zeviani

Journal: Am. J. Hum. Genet.. 2014 Sep;95(3):315-25.

 

Cytochrome c oxidase (COX) deficiency is a frequent biochemical abnormality in mitochondrial disorders, but a large fraction of cases remains genetically undetermined. Whole-exome sequencing led to the identification of APOPT1 mutations in two Italian sisters and in a third Turkish ...

Last Updated: 6 Sep 2014

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Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis.
 

Author(s): L-H Yang, M-S Wang, F-X Zheng, J Li, Y Chen, Y-H Jin, H-X Xie, X-L Yang, B-C Chen

Journal:

 

We investigated the alteration of coagulation state in a protein C (PC) deficiency pedigree and the impact of the PC gene mutations. The pedigree of a proband with cerebral hemorrhagic infarction had sixteen members with four generations. The plasma levels of PC activity (PC:A), protein ...

Last Updated: 30 Apr 2014

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Childhood interstitial lung disease due to surfactant protein C deficiency: frequent use and costs of hospital services for a single case in Australia.
 

Author(s): Neil J Hime, Dominic Fitzgerald, Paul Robinson, Hiran Selvadurai, Peter Van Asperen, Adam Jaffé, Yvonne Zurynski

Journal:

 

Rare chronic diseases of childhood are often complex and associated with multiple health issues. Such conditions present significant demands on health services, but the degree of these demands is seldom reported. This study details the utilisation of hospital services and associated ...

Last Updated: 26 Mar 2014

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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

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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; Pulmonary Surfactants

 

Last Updated: 19 Oct 2014

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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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