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adrenoleukodystrophy

Disease Summary
Associated Targets (126)
Tbio

97

Tchem

16

Tdark

8

Tclin

5


Explore Associated Targets
Mondo Description A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
Uniprot Description A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0018544:  adrenoleukodystrophy
GARD:0005758: 
MESH:D000326: 
NCIT:C61252: 
Orphanet:43: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)