/X-linked sideroblastic anemia with ataxia

X-linked sideroblastic anemia with ataxia

Rare Disease

MONDO:0010524

Also Known As

ASATPagon-Bird-Detter syndromeX-linked sideroblastic anaemia and ataxiaX-linked sideroblastic anaemia with spinocerebellar ataxiaX-linked sideroblastic anemia and ataxiaX-linked sideroblastic anemia with ataxiaX-linked sideroblastic anemia with spinocerebellar ataxiaXLSA-Aanaemia sideroblastic and spinocerebellar ataxiaanemia sideroblastic and spinocerebellar ataxiaanemia, sideroblastic, with ataxia, X-linked recessivesideroblastic anaemia with spinocerebellar ataxiasideroblastic anemia with spinocerebellar ataxiaPagon Bird Detter syndromeX-linked sideroblastic Anaemia and ataxiaX-linked sideroblastic Anemia and ataxiaX-linked sideroblastic anaemia and spinocerebellar ataxiaX-linked sideroblastic anemia and spinocerebellar ataxiaXlsa-Aanemia, Sex-linked hypochromic Sideroblaanemia, sideroblastic, and spinocerebellar 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.