Learn About Ataxia-Pancytopenia Syndrome

What is the definition of Ataxia-Pancytopenia Syndrome?

Ataxia-pancytopenia syndrome is a rare condition that affects the part of the brain that coordinates movement (the cerebellum) and blood-forming cells in the bone marrow. The age when signs and symptoms begin, the severity of the condition, and the rate at which it worsens all vary among affected individuals.

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What are the causes of Ataxia-Pancytopenia Syndrome?

Ataxia-pancytopenia syndrome is caused by inherited mutations in the SAMD9L gene. The protein produced from this gene is involved in regulating the growth and division (proliferation) and maturation (differentiation) of cells, particularly cells in the bone marrow that give rise to blood cells. Studies suggest that the SAMD9L protein acts as a tumor suppressor, keeping cells from growing and dividing too rapidly or in an uncontrolled way. The SAMD9L protein also appears to play an important role in the brain, particularly the cerebellum, although less is known about the protein's function there.

How prevalent is Ataxia-Pancytopenia Syndrome?

Ataxia-pancytopenia syndrome appears to be very rare. At least 25 affected individuals from four families have been described in the medical literature.

Is Ataxia-Pancytopenia Syndrome an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In all reported cases, an affected person has had one parent with the condition.

Who are the top Ataxia-Pancytopenia Syndrome Local Doctors?
Distinguished
Highly rated in
37
conditions
Hematology
Oncology
Internal Medicine

Levine Cancer Institute - Gaston

2610 Aberdeen Blvd 
Gastonia, NC 28054

Ali-reza Golshayan is a Hematologist and an Oncologist in Gastonia, North Carolina. Dr. Golshayan is rated as a Distinguished doctor by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. He is also highly rated in 37 other conditions, according to our data. His top areas of expertise are Fanconi Anemia, Shwachman-Diamond Syndrome, Ataxia-Pancytopenia Syndrome, and Pure Red Cell Aplasia. He is licensed to treat patients in North Carolina. Dr. Golshayan is currently accepting new patients.

Distinguished
Highly rated in
26
conditions
Hematology Oncology

Park Nicollet Health Services

Methodist Hospital

6500 Excelsior Blvd 
St. Louis Park, MN 55426

Kathryn Moore is a Hematologist Oncology doctor in St. Louis Park, Minnesota. Dr. Moore has been practicing medicine for over 17 years and is rated as a Distinguished doctor by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. She is also highly rated in 26 other conditions, according to our data. Her top areas of expertise are Shwachman-Diamond Syndrome, Ataxia-Pancytopenia Syndrome, Fanconi Anemia, and Pure Red Cell Aplasia. She is licensed to treat patients in Oregon and Illinois. Dr. Moore is currently accepting new patients.

 
 
 
 
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Distinguished
Highly rated in
25
conditions
Hematology Oncology
Palliative Medicine

Indiana University Health

IUSCC Hematology Clinic

1030 W Michigan St 
Indianapolis, IN 46202

Larry Cripe is a Hematologist Oncology specialist and a Palliative Medicine doctor in Indianapolis, Indiana. Dr. Cripe has been practicing medicine for over 38 years and is rated as a Distinguished doctor by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. He is also highly rated in 25 other conditions, according to our data. His top areas of expertise are Acute Myeloid Leukemia, Acute Myeloblastic Leukemia without Maturation, Acute Myeloblastic Leukemia with Maturation, and Fanconi Anemia. He is licensed to treat patients in Indiana. Dr. Cripe is currently accepting new patients.

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Who are the sources who wrote this article ?

Published Date:updated Last, September

Published By: National Institutes of Health

What are the Latest Advances for Ataxia-Pancytopenia Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.