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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0007272 | Progressive psychomotor deterioration |
| HP:0007663 | Reduced visual acuity |
| HP:0008619 | Bilateral sensorineural hearing impairment |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0012433 | Abnormal social behavior |
| HP:0100575 | Neoplasm of the gallbladder |
| HP:0100753 | Schizophrenia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
