X-linked sideroblastic anemia with ataxia

Summary
Synonym
  • Anemia sideroblastic and spinocerebellar ataxia
  • Anemia, sideroblastic, spinocerebellar ataxia
  • X-linked sideroblastic anaemia and ataxia
  • X-linked sideroblastic anaemia with ataxia
  • X-linked sideroblastic anemia and ataxia
Definition
A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.
Super Class
X-linked recessive disease sideroblastic anemia
Disease Ontology
DOID:0050554
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
22 ABCB7 ATP binding cassette subfamily B member 7

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024