adrenoleukodystrophy

Summary
Synonym
  • ALD
  • Bronze Schilder disease
  • Encephalitis periaxialis concentrica
  • Encephalitis periaxialis, Schilder's
  • Siemerling-Creutzfeldt Disease
  • X-linked adrenoleukodystrophy
  • diffuse sclerosis
  • sudanophilic cerebral sclerosis
Definition
A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
Super Class
X-linked recessive disease leukodystrophy
External Links
Disease Ontology
DOID:10588
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 41 - 50 of 92 in total
Gene ID Gene Symbol Description Source
3339 HSPG2 heparan sulfate proteoglycan 2
3383 ICAM1 intercellular adhesion molecule 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase
3897 L1CAM L1 cell adhesion molecule
4099 MAG myelin associated glycoprotein
4153 MBL2 mannose binding lectin 2
4245 MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
4684 NCAM1 neural cell adhesion molecule 1

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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