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 21 - 30 of 92 in total
Gene ID Gene Symbol Description Source
1544 CYP1A2 cytochrome P450 family 1 subfamily A member 2
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1559 CYP2C9 cytochrome P450 family 2 subfamily C member 9
1571 CYP2E1 cytochrome P450 family 2 subfamily E member 1
1576 CYP3A4 cytochrome P450 family 3 subfamily A member 4
1589 CYP21A2 cytochrome P450 family 21 subfamily A member 2
1636 ACE angiotensin I converting enzyme
1737 DLAT dihydrolipoamide S-acetyltransferase
1892 ECHS1 enoyl-CoA hydratase, short chain 1
2262 GPC5 glypican 5

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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