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 31 - 40 of 92 in total
Gene ID Gene Symbol Description Source
2523 FUT1 fucosyltransferase 1 (H blood group)
2539 G6PD glucose-6-phosphate dehydrogenase
2572 GAD2 glutamate decarboxylase 2
2678 GGT1 gamma-glutamyltransferase 1
2720 GLB1 galactosidase beta 1
2752 GLUL glutamate-ammonia ligase
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3033 HADH hydroxyacyl-CoA dehydrogenase
3290 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4

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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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