Ataxia-pancytopenia syndrome is a rare autosomal dominant disorder characterized by cerebellar ataxia, peripheral neuropathies,

pancytopenia Pancytopenia is a medical condition in which there is significant reduction in the number of almost all blood cells (red blood cells, white blood cells, platelets, monocytes, lymphocytes, etc.). If only two parameters from the complete blood cou ...

and a predilection to myelodysplastic syndrome and acute

myeloid leukemia Myeloid leukemia is a type of leukemia affecting myeloid tissue. Types include: * Acute myeloid leukemia * Chronic myelogenous leukemia * Acute megakaryoblastic leukemia * Blastic plasmacytoid dendritic cell neoplasm See also * Hematological m ...

Signs and symptoms

Genetics

This syndrome is caused by mutations in the

sterile alpha motif In molecular biology, the protein domain Sterile alpha motif (or SAM) is a putative protein interaction module present in a wide variety of proteins involved in many biological processes. The SAM domain that spreads over around 70 residues is fo ...

domain containing 9-like ( SAMD9L) gene.Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH (2016) Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet 98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009 This gene is located on the long arm of chromosome 7.

Diagnosis

History

Ataxia-pancytopenia syndrome, also known as myelocerebellar dysfunction, was first described by

Frederick Pei Li Frederick Pei Li (; May 7, 1940 – June 12, 2015) was a United States, Chinese-American physician. He is most famous for his discovery, together with his colleague Joseph Fraumeni, of Li–Fraumeni syndrome, which is caused by germline mutations ...

in 1978. The father and all five of his children developed ataxia and hematologic

cytopenias Cytopenia is a reduction in the number of mature blood cells. It is common in cancer patients being treated with radiation and/or chemotherapy. Types Anemia – a reduction of the red blood cells in the body. Leukopenia – a deficiency of whit ...

of varying severity during their first to third decades of life.

References

Syndromes affecting the cerebellum Syndromes affecting blood Syndromes with tumors {{Genetic-disorder-stub}