Scott syndrome

Common Name(s)

Scott syndrome

Scott syndrome is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents ({9:Munnix et al., 2003}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Scott syndrome" 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 "Scott syndrome" returned 23 free, full-text research articles on human participants. First 3 results:

Combined Quantification of the Global Proteome, Phosphoproteome, and Proteolytic Cleavage to Characterize Altered Platelet Functions in the Human Scott Syndrome.
 

Author(s): Fiorella A Solari, Nadine J A Mattheij, Julia M Burkhart, Frauke Swieringa, Peter W Collins, Judith M E M Cosemans, Albert Sickmann, Johan W M Heemskerk, René P Zahedi

Journal: Mol. Cell Proteomics. 2016 Oct;15(10):3154-3169.

 

The Scott syndrome is a very rare and likely underdiagnosed bleeding disorder associated with mutations in the gene encoding anoctamin-6. Platelets from Scott patients are impaired in various Ca(2+)-dependent responses, including phosphatidylserine exposure, integrin closure, intracellular ...

Last Updated: 18 Aug 2016

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Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
 

Author(s): Alfredo Orrico, Lucia Galli, Jill Clayton-Smith, Jean-Pierre Fryns

Journal: Eur. J. Hum. Genet.. 2015 Apr;23(4):.

 

Last Updated: 12 Mar 2015

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Mania with Aarskog-Scott syndrome.
 

Author(s): Raghavendra B Nayak, L Ambika, G S Bhogale, A Pandurangi

Journal: Indian Pediatr. 2012 Apr;49(4):327-8.

 

Aarskog-Scott syndrome is transmitted as an X-linked trait and affects males. We report a 10-year-old boy presenting with complaints of increased temper tantrums, demanding behavior, grandiose ideas, over familiarity, abusive assaultive behavior and tobacco abuse. On examination, ...

Last Updated: 8 May 2012

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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 "Scott syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome.
 

Author(s): T Lhermusier, H Chap, B Payrastre

Journal: J. Thromb. Haemost.. 2011 Oct;9(10):1883-91.

 

Like all eukaryotic cells, platelets maintain plasma membrane phospholipid asymmetry in normal blood circulation via lipid transporters, which control transbilayer movement. Upon platelet activation, the asymmetric orientation of membrane phospholipids is rapidly disrupted, resulting ...

Last Updated: 30 Sep 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.