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
Displaying entries 1 - 10 of 14 in total
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
The Human Phenotype Ontology
Displaying entries 51 - 60 of 71 in total
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
Displaying all 2 entries
Gene ID Gene Symbol Description
410 ARSA arylsulfatase A
5660 PSAP prosaposin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024