Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 3037 | HAS2 | hyaluronan synthase 2 | |
| 6342 | SCP2 | sterol carrier protein 2 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 50515 | CHST11 | carbohydrate sulfotransferase 11 | |
| 134526 | ACOT12 | acyl-CoA thioesterase 12 | |
| 100507436 | MICA | MHC class I polypeptide-related sequence A |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase | |
| P07741 | Adenine phosphoribosyltransferase | |
| P35610 | Sterol O-acyltransferase 1 | |
| Q29983 | MHC class I polypeptide-related sequence A | |
| Q92819 | Hyaluronan synthase 2 | |
| Q9NPF2 | Carbohydrate sulfotransferase 11 |
