PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0221018|x-linked sideroblastic anemia |
| Sentences | 6 |
| PubMedID- 21464130 | x-linked sideroblastic anemia with ataxia (xlsa/a) is a rare inherited disorder characterized by mild anemia and ataxia. |
| PubMedID- 25878762 | Examples are the mutations in the scaffold protein iscu in swedish myopathy or in the abcb7 gene in x-linked sideroblastic anemia with ataxia and the mutation in glutaredoxin glrx5 identified in a patient presenting sideroblastic anemia (reviewed in [53]). |
| PubMedID- 24592338 | Moreover, a rare inherited x-linked sideroblastic anemia with spinocerebellar ataxia, characterized by anaemia with mitochondrial iron accumulation in the bone marrow erythroblasts, is caused by mutations in abcb7 gene. |
| PubMedID- 24275786 | Mutations in abcb7 transporter may disrupt the maturation of [fe-s] [31] in fech during heme biosynthesis and lead to x-linked sideroblastic anemia with ataxia (xlsa-a) (omim: 301310). |
| PubMedID- 21326867 | Abcb7, previously shown to be mutated in x-linked sideroblastic anemia with ataxia (xlsa/a—omim 301310) is decreased in sod2-/- cells (1.6 fold decrease, p = 0.02, unpaired t test). |
| PubMedID- 21569638 | x-linked sideroblastic anemia with ataxia (xlsa/a) (mim 301310) is a rare x-linked disorder characterised by early onset slowly progressive ataxia associated with a sideroblastic anemia due to mitochondrial iron accumulation. |
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