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
Disease Ontology
DOID:10588
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
215 ABCD1 ATP binding cassette subfamily D member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
11666 Abcd1 ATP-binding cassette, sub-family D member 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
853647 PXA2 ATP-binding cassette long-chain fatty acid transporter PXA2
855956 PXA1 ATP-binding cassette long-chain fatty acid transporter PXA1
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 103 in total
HPO ID HPO Term
HP:0000026 Male hypogonadism
HP:0000317 Facial myokymia
HP:0000365 Hearing impairment
HP:0000618 Blindness
HP:0000657 Oculomotor apraxia
HP:0000708 Atypical behavior
HP:0000736 Short attention span
HP:0000752 Hyperactivity
HP:0001250 Seizure
HP:0001251 Ataxia
Displaying 1 entry
Gene ID Gene Symbol Description
215 ABCD1 ATP binding cassette subfamily D member 1

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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: December 8, 2025