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MIRAGE
leukoencephalopathy with vanishing white matter
Summary
- Synonym
-
- CACH
- CACH/VWM
- childhood ataxia with central nervous system hypomyelination
- vanishing white matter leukodystrophy
- Definition
- A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood.
- Super Class
- autosomal recessive disease leukodystrophy
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q61749 | Translation initiation factor eIF2B subunit delta | |
| Q8CHW4 | Translation initiation factor eIF2B subunit epsilon |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12754 | Translation initiation factor eIF2B subunit delta |
