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 71 - 80 of 92 in total
Gene ID Gene Symbol Description Source
22925 PLA2R1 phospholipase A2 receptor 1
23175 LPIN1 lipin 1
23205 ACSBG1 acyl-CoA synthetase bubblegum family member 1
26503 SLC17A5 solute carrier family 17 member 5
27306 HPGDS hematopoietic prostaglandin D synthase
51548 SIRT6 sirtuin 6
56848 SPHK2 sphingosine kinase 2
60506 NYX nyctalopin
64834 ELOVL1 ELOVL fatty acid elongase 1
65078 RTN4R reticulon 4 receptor

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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