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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 |
|---|---|---|
| O15121 | Sphingolipid delta(4)-desaturase DES1 | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P07602 | Prosaposin | |
| P08842 | Steryl-sulfatase | |
| P15289 | Arylsulfatase A | |
| P15848 | Arylsulfatase B | |
| P16278 | Beta-galactosidase | |
| P17405 | Sphingomyelin phosphodiesterase | |
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P22304 | Iduronate 2-sulfatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002483 | Bulbar signs |
| HP:0002607 | Bowel incontinence |
| HP:0002922 | Increased CSF protein concentration |
| HP:0003270 | Abdominal distention |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0003487 | Babinski sign |
| HP:0004343 | Abnormal glycosphingolipid metabolism |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction |
| HP:0007133 | Progressive peripheral neuropathy |
| HP:0007240 | Progressive gait ataxia |
