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X-linked sideroblastic anemia with ataxia

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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.

Synonyms

  • ASAT
  • Pagon Bird Detter syndrome
  • Pagon-Bird-Detter syndrome
  • X-linked sideroblastic Anaemia and ataxia
  • X-linked sideroblastic Anemia and ataxia
  • X-linked sideroblastic anaemia and ataxia
  • X-linked sideroblastic anaemia and spinocerebellar ataxia
  • X-linked sideroblastic anaemia with spinocerebellar ataxia
  • X-linked sideroblastic anemia and ataxia
  • X-linked sideroblastic anemia and spinocerebellar ataxia
  • X-linked sideroblastic anemia with ataxia
  • X-linked sideroblastic anemia with spinocerebellar ataxia
  • XLSA-A
  • Xlsa-A
  • anaemia sideroblastic and spinocerebellar ataxia
  • anemia sideroblastic and spinocerebellar ataxia
  • anemia, Sex-linked hypochromic Siderobla
  • anemia, sideroblastic, and spinocerebellar ataxia
  • anemia, sideroblastic, with ataxia, X-linked recessive
  • sideroblastic anaemia with spinocerebellar ataxia
  • sideroblastic anemia with spinocerebellar ataxia
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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