X-linked sideroblastic anemia with ataxia
X-linked sideroblastic anemia with ataxia
Definition
A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
Also known as anaemia sideroblastic and spinocerebellar ataxia, anemia, sideroblastic, with ataxia, X-linked recessive, ASAT, Pagon-Bird-Detter syndrome, sideroblastic anaemia with spinocerebellar ataxia, sideroblastic anemia with spinocerebellar ataxia, X-linked sideroblastic anaemia with spinocerebellar ataxia, X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with spinocerebellar ataxia, XLSA-A — per MONDO