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 61 - 70 of 92 in total
Gene ID Gene Symbol Description Source
8529 CYP4F2 cytochrome P450 family 4 subfamily F member 2
8877 SPHK1 sphingosine kinase 1
9023 CH25H cholesterol 25-hydroxylase
9348 NDST3 N-deacetylase and N-sulfotransferase 3
9469 CHST3 carbohydrate sulfotransferase 3
10135 NAMPT nicotinamide phosphoribosyltransferase
10327 AKR1A1 aldo-keto reductase family 1 member A1
10682 EBP EBP cholestenol delta-isomerase
10998 SLC27A5 solute carrier family 27 member 5
11343 MGLL monoglyceride lipase

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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