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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
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P34059 | N-acetylgalactosamine-6-sulfatase | |
| P54803 | Galactocerebrosidase | |
| Q8NBK3 | Formylglycine-generating enzyme | |
| Q96EG1 | Arylsulfatase G |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0001268 | Mental deterioration |
| HP:0001283 | Bulbar palsy |
| HP:0001288 | Gait disturbance |
| HP:0001347 | Hyperreflexia |
| HP:0002445 | Tetraplegia |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002510 | Spastic tetraplegia |
| HP:0003445 | EMG: neuropathic changes |
| HP:0005609 | Gallbladder dysfunction |
