Medical Definition of Pagon syndrome

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Pagon syndrome: Congenital anemia with spinocerebellar ataxia (wobbliness). The anemia is characterized by sideroblasts (iron-rich ancestors of red blood cells). The spinocerebellar ataxia becomes evident by 1 year of age.

The syndrome is inherited in an X-linked recessive manner and is due to mutation in the ABC gene in Xq13.1-q13.3. The ABC gene is an ATP-binding cassette (ABC) transporter, encodes a protein that localizes to the mitochondrial inner membrane and is involved in iron homeostasis. Thus, Pagon syndrome is a mitochondrial disease caused by a mutation in the nuclear genome.

The syndrome is named for the American pediatric geneticist Roberta Anderson Pagon. The condition is also known as ASAT "anemia, sideroblastic, and spinocerebellar ataxia" or ASAT.

Reviewed on 9/7/2018

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