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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
 

Author(s): Alessandra Gamberucci, Paola Marcolongo, Csilla E Németh, Nicoletta Zoppi, András Szarka, Nicola Chiarelli, Tamás Hegedűs, Marco Ritelli, Giulia Carini, Andy Willaert, Bert L Callewaert, Paul J Coucke, Angiolo Benedetti, Éva Margittai, Rosella Fulceri, Gábor Bánhegyi, Marina Colombi

Journal:

 

GLUT10 belongs to a family of transporters that catalyze the uptake of sugars/polyols by facilitated diffusion. Loss-of-function mutations in the gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS). Since subcellular distribution of the transporter is dubious, ...

Last Updated: 31 Dec 1969

Go To URL
Arterial tortuosity syndrome.
 

Author(s): Erfan Mehrabi, Kamran Khan, Shahab A Malik

Journal:

 

Last Updated: 31 Dec 1969

Go To URL
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.
 

Author(s): Csilla E Németh, Paola Marcolongo, Alessandra Gamberucci, Rosella Fulceri, Angiolo Benedetti, Nicoletta Zoppi, Marco Ritelli, Nicola Chiarelli, Marina Colombi, Andy Willaert, Bert L Callewaert, Paul J Coucke, Pál Gróf, Szilvia K Nagy, Tamás Mészáros, Gábor Bánhegyi, Éva Margittai

Journal: FEBS Lett.. 2016 Jun;590(11):1630-40.

 

Loss-of-function mutations in the gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS), a rare connective tissue disorder. In this study GLUT10-mediated dehydroascorbic acid (DAA) transport was investigated, supposing its involvement in the pathomechanism. GLUT10 ...

Last Updated: 31 Dec 1969

Go To URL

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: 31 Dec 1969

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Pathogenetic Basis of Aortopathy and Aortic Valve Disease
 

Status: Recruiting

Condition Summary: Aortopathies; Thoracic Aortic Aneurysm; Aortic Valve Disease; Thoracic Aortic Disease; Thoracic Aortic Dissection; Thoracic Aortic Rupture; Ascending Aortic Disease; Descending Aortic Disease; Ascending Aortic Aneurysm; Descending Aortic Aneurysm; Marfan Syndrome; Loeys-Dietz Syndrome; Ehlers-Danlos Syndrome; Shprintzen-Goldberg Syndrome; Turner Syndrome; PHACE Syndrome; Autosomal Recessive Cutis Laxa; Congenital Contractural Arachnodactyly; Arterial Tortuosity Syndrome

 

Last Updated: 7 Aug 2018

Go to URL