Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
metachromatic leukodystrophy
Summary
- Synonym
-
- MLD
- Scholz cerebral sclerosis
- arylsulfatase A deficiency
- deficiency of cerebroside-sulfatase
- sulfatide lipoidosis
- Definition
- A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
- Super Class
- sphingolipidosis
External Links
- Disease Ontology
- DOID:10581
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07602 | Prosaposin | |
| P15289 | Arylsulfatase A |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50428 | Arylsulfatase A | |
| Q61207 | Prosaposin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001251 | Ataxia |
| HP:0001263 | Global developmental delay |
| HP:0001271 | Polyneuropathy |
| HP:0001285 | Spastic tetraparesis |
| HP:0002015 | Dysphagia |
| HP:0002333 | Motor deterioration |
| HP:0002505 | Loss of ambulation |
| HP:0002518 | Abnormal periventricular white matter morphology |
| HP:0007305 | CNS demyelination |
| HP:0009830 | Peripheral neuropathy |
