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.

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