sideroblastic anemia with spinocerebellar ataxia

Genetics

• recessive disorder
• associated with defects in ABCB7

Clinical manifestations

• infantile to early childhood onset of nonprogressive cerebellar ataxia

Laboratory

• complete blood count (CBC): mild anemia with hypochromia & microcytosis

More general terms

• sideroblastic anemia
• X-linked disease

Additional terms

• ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ABC transporter 7 protein (ABCB7 ABC7)

Patient information

sideroblastic anemia-ataxia syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/301310
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8252