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.
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.
Ataxia-pancytopenia syndrome appears to be very rare. At least 25 affected individuals from four families have been described in the medical literature.
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.
Rami Komrokji is a Hematologist Oncology specialist and an Oncologist in Tampa, Florida. Komrokji has been practicing medicine for over 27 years and is rated as a Distinguished expert by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. He is also highly rated in 36 other conditions, according to our data. His top areas of expertise are Myelodysplastic Syndrome (MDS), Chronic Myelomonocytic Leukemia (CMML), Sideroblastic Anemia, Acute Myeloid Leukemia (AML), and Bone Marrow Aspiration. Komrokji is currently accepting new patients.
Ali Golshayan is an Oncologist and a Hematologist Oncology expert in Gastonia, North Carolina. Golshayan has been practicing medicine for over 22 years and is rated as a Distinguished expert by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. He is also highly rated in 34 other conditions, according to our data. His top areas of expertise are Fanconi Anemia, Ataxia-Pancytopenia Syndrome, Shwachman-Diamond Syndrome, and Pure Red Cell Aplasia. Golshayan is currently accepting new patients.
Morgan Mclemore is a Hematologist Oncology specialist and a Hematologist in Atlanta, Georgia. Mclemore has been practicing medicine for over 33 years and is rated as a Distinguished expert by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. He is also highly rated in 46 other conditions, according to our data. His top areas of expertise are Sickle Cell Disease, Hemoglobinopathy, Congenital Hemolytic Anemia, Hemolytic Anemia, and Bone Marrow Aspiration. Mclemore is currently accepting new patients.
Published Date: September 01, 2017Published By: National Institutes of Health
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