A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death. [ NCI ]

Synonyms:

Adrenoleukodystrophy

Schilder Disease

This is just here as a test because I lose it

Term information

Subsets

NCIT_C90259, NCIT_C118168, NCIT_C165258, NCIT_C116977, NCIT_C118467

ALT DEFINITION
  • An X-linked recessive condition caused by mutation(s) in the ABCD1 gene, resulting in defective peroxisomal fatty acid oxidation and accumulation of saturated very long chain fatty acids in all tissues of the body. Clinical manifestations of the condition vary in severity, and can include progressive loss of adrenal gland function, Leydig cell dysfunction, and neurodegenerative changes.
Contributing Source
  • CTRP
  • Cellosaurus
  • NICHD
Display Name
  • Adrenoleukodystrophy
Legacy Concept Name
  • Adrenoleukodystrophy
Preferred Name
  • Adrenoleukodystrophy
Semantic Type
  • Disease or Syndrome
UMLS CUI
  • C0162309
code
  • C61252