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 1 - 10 of 92 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
126 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
128 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
142 PARP1 poly(ADP-ribose) polymerase 1
217 ALDH2 aldehyde dehydrogenase 2 family member
231 AKR1B1 aldo-keto reductase family 1 member B
353 APRT adenine phosphoribosyltransferase
411 ARSB arylsulfatase B
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
912 CD1D CD1d molecule

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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