Details of Disease | DrugMAP

General Information of Disease (ID: DISLN6PA)

Disease Name	X-linked cerebral adrenoleukodystrophy
Synonyms	childhood cerebral ALD; bronze Schilder disease; melanodermic leukodystrophy; Addison disease and cerebral sclerosis; ALD childhood cerebral form; Siemerling-Creutzfeldt disease; childhood-onset cerebral X-linked adrenoleukodystrophy; adrenoleukodystrophy; ALD; adrenomyeloneuropathy; adrenoleukodystrophy childhood cerebral form; adrenoleukodystrophy X-linked cerebral form; X-linked cerebral adrenoleukodystrophy
Definition	A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.
Disease Hierarchy	DISTUD1F: Adrenoleukodystrophy DISLN6PA: X-linked cerebral adrenoleukodystrophy
Disease Identifiers	MONDO ID MONDO_0010247 UMLS CUI C2026514 MedGen ID 1708324 Orphanet ID 139396

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCD1	DTKM9DZ	Definitive	X-linked	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCD1	OT3FL9W0	Definitive	X-linked	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.