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.

 

 

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

Protein C Thr315Ala variant results in gain of function but manifests as type II deficiency in diagnostic assays.
 

Author(s): Qiulan Ding, Likui Yang, Peyman Dinarvand, Xuefeng Wang, Alireza R Rezaie

Journal: Blood. 2015 Apr;125(15):2428-34.

 

Protein C (PC) is a vitamin K-dependent plasma glycoprotein, which upon activation by thrombin in complex with thrombomodulin (TM), regulates the coagulation cascade through a feedback loop inhibition mechanism. PC deficiency is associated with an increased risk of venous thromboembolism ...

Last Updated: 10 Apr 2015

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Clinical significance of C-reactive protein levels in predicting responsiveness to iron therapy in patients with inflammatory bowel disease and iron deficiency anemia.
 

Author(s): Tariq Iqbal, Jürgen Stein, Naveen Sharma, Stefanie Kulnigg-Dabsch, Senthil Vel, Christoph Gasche

Journal: Dig. Dis. Sci.. 2015 May;60(5):1375-81.

 

Iron deficiency anemia (IDA) is a common complication of inflammatory bowel disease (IBD). In clinical practice, many patients receive initial treatment with iron tablets although intravenous (i.v.) iron supplementation is often preferable.

Last Updated: 12 May 2015

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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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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 7 free, full-text review articles on human participants. First 3 results:

Protein C deficiency related obscure gastrointestinal bleeding treated by enteroscopy and anticoagulant therapy.
 

Author(s): Wei-Fan Hsu, Yuk-Ming Tsang, Chung-Jen Teng, Chen-Shuan Chung

Journal: World J. Gastroenterol.. 2015 Jan;21(3):1024-7.

 

Obscure gastrointestinal bleeding is an uncommonly encountered and difficult-to-treat clinical problem in gastroenterology, but advancements in endoscopic and radiologic imaging modalities allow for greater accuracy in diagnosing obscure gastrointestinal bleeding. Ectopic varices ...

Last Updated: 27 Jan 2015

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[Two cases of pulmonary thromboembolism associated with protein C and protein S deficiency and literature review].
 

Author(s): Fang Liu, Lanyan Zhu, Ping Chen, Zhihui Shi, Shaokun Liu

Journal: Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2013 Sep;38(9):971-6.

 

To explore the clinical manifestations, diagnosis and treatment of pulmonary thromboembolism associated with protein C (PC)/protein S (PS) deficiency. Two male patients 29 and 26 years old diagnosed with PC deficiency and/or PS deficiency were retrospectively analyzed and related ...

Last Updated: 27 Sep 2013

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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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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: 1 Jun 2015

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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 Disease; ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of

 

Last Updated: 3 Dec 2015

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Last Updated: 22 Feb 2012

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