Arterial Tortuosity Syndrome

Common Name(s)

Arterial Tortuosity Syndrome

Arterial Tortuosity Syndrome (ATS) is a rare genetic condition that is characterized by arteries that are too long which twist and kink. ATS may predispose a person to stroke, heart attack, aneurism, and general pain. This connective tissue syndrome can also cause joints to stretch further than their normal range and predispose an affected individual to abdominal hernias. There are currently only 100 cases of ATS documented. ATS runs in families. ATS is commonly misdiagnosed or diagnosed at a late stage. There is currently no treatment for ATS, although other risk factors for stroke and heart attack, such as high blood pressure or obesity, can be controlled to decrease a persons overall risk of this complications.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arterial Tortuosity Syndrome" for support, advocacy or research.

A Twist of Fate-ATS

"Our mission is a world wide initiative to find a cure for Arterial Tortuosity Syndrome, by supporting research, education, awareness, and families"

Last Updated: 14 Jul 2016

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arterial Tortuosity Syndrome" for support, advocacy or research.

A Twist of Fate-ATS

"Our mission is a world wide initiative to find a cure for Arterial Tortuosity Syndrome, by supporting research, education, awareness, and families"

http://www.atwistoffate-ats.com

Last Updated: 14 Jul 2016

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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 "Arterial Tortuosity Syndrome" returned 17 free, full-text research articles on human participants. First 3 results:

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
 

Author(s): Nicoletta Zoppi, Nicola Chiarelli, Valeria Cinquina, Marco Ritelli, Marina Colombi

Journal: Hum. Mol. Genet.. 2015 Dec;24(23):6769-87.

 

Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disorder caused by loss-of-function mutations in SLC2A10, which encodes facilitative glucose transporter 10 (GLUT10). The role of GLUT10 in ATS pathogenesis remains an enigma, and the transported metabolite(s), ...

Last Updated: 6 Nov 2015

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Clinical utility gene card for: Arterial tortuosity syndrome.
 

Author(s): Juliette Albuisson, Pamela Moceri, Elisabeth Flori, Emre Belli, Céline Gronier, Xavier Jeunemaitre

Journal: Eur. J. Hum. Genet.. 2015 Oct;23(10):.

 

Last Updated: 17 Sep 2015

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Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report.
 

Author(s): Sheng Chen, Yuan Hong, Prativa Sherchan, Jian-Min Zhang

Journal: Turk Neurosurg. 2014 ;24(3):419-21.

 

Arterial tortuosity syndrome (ATS) is an extremely rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of all major arteries. We report a clinical case of a girl with this rare condition, who initially presented with epilepsy. DSA or MRA ...

Last Updated: 22 May 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 "Arterial Tortuosity Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
 

Author(s): Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Elena Reffo, Marina Venturini, Stefano Quinzani, Matteo Della Monica, Gioacchino Scarano, Giuseppe Santoro, Maria Giovanna Russo, Piergiacomo Calzavara-Pinton, Ornella Milanesi, Marina Colombi

Journal:

 

Arterial Tortuosity Syndrome (ATS) is a very rare autosomal recessive connective tissue disorder (CTD) characterized by tortuosity and elongation of the large- and medium-sized arteries and a propensity for aneurysm formation and vascular dissection. During infancy, children frequently ...

Last Updated: 27 Apr 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.