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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 411 | ARSB | arylsulfatase B | |
| 412 | STS | steroid sulfatase | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2581 | GALC | galactosylceramidase | |
| 2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 5660 | PSAP | prosaposin |
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: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 |
