Acanthocytosis

Common Name(s)

Acanthocytosis

Acanthocytosis is a condition characterized by the presence of abnormally-shaped red blood cells called acanthocytes. Signs and symptoms more commonly reported include a history of chronic diarrhea with pale, foul-smelling, and bulky stools; loss of appetite and vomiting; and slow weight gain and decreased growth. Some individuals hvae may have ataxia, tremors, and visual abnormalities; or jaundice, abdominal pain, pallor, dark urine, and recurrent infections. Although acanthocytosis has been associated with a number of both inherited and acquired conditions, it most commonly occurs with abetalipoproteinemia and hemolytic anemia of severe liver disease. Treatment for acanthocytosis depends on the underlying condition the affected individual has.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Acanthocytosis" 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 "Acanthocytosis" returned 37 free, full-text research articles on human participants. First 3 results:

Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate.
 

Author(s): Weronika Rzepnikowska, Krzysztof Flis, Joanna Kaminska, Marcin Grynberg, Agnieszka Urbanek, Kathryn R Ayscough, Teresa Zoladek

Journal: Hum. Mol. Genet.. 2017 Apr;26(8):1497-1510.

 

The rare human disorder chorea-acanthocytosis (ChAc) is caused by mutations in hVPS13A gene. The hVps13A protein interacts with actin and regulates the level of phosphatidylinositol 4-phosphate (PI4P) in the membranes of neuronal cells. Yeast Vps13 is involved in vacuolar protein ...

Last Updated: 23 Mar 2017

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Neuronal Dysfunction in iPSC-Derived Medium Spiny Neurons from Chorea-Acanthocytosis Patients Is Reversed by Src Kinase Inhibition and F-Actin Stabilization.
 

Author(s): Nancy Stanslowsky, Peter Reinhardt, Hannes Glass, Norman Kalmbach, Maximilian Naujock, Niko Hensel, Verena L├╝bben, Arun Pal, Anna Venneri, Francesca Lupo, Lucia De Franceschi, Peter Claus, Jared Sterneckert, Alexander Storch, Andreas Hermann, Florian Wegner

Journal: J. Neurosci.. 2016 Nov;36(47):12027-12043.

 

Chorea-acanthocytosis (ChAc) is a fatal neurological disorder characterized by red blood cell acanthocytes and striatal neurodegeneration. Recently, severe cell membrane disturbances based on depolymerized cortical actin and an elevated Lyn kinase activity in erythrocytes from ChAc ...

Last Updated: 24 Nov 2016

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[Epilepsy revealing chorea-acanthocytosis: about a case].
 

Author(s): Nawfal Doghmi, Abdelghafour Elkoundi, Amine Meskine, Aziz Benakrout, Abdelouahed Baite, Cherqui Haimeur

Journal:

 

Chorea-acanthocytosis (ChAc) is an extremely rare autosomal recessive disorder caused by mutations in the VSP13A gene on chromosome 9q21. It is characterized by neurological symptoms, psychiatric manifestations and multisystem involvement resulting in myopathy, axonal neuropathy and ...

Last Updated: 31 Oct 2016

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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 "Acanthocytosis" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins
 

Status: Recruiting

Condition Summary: Abetalipoproteinemia; Atherosclerosis; Healthy; Inborn Errors Lipid Metabolism

 

Last Updated: 26 Oct 2017

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Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 13 Sep 2017

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