Terminology Service for NFDI4Health
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Adrenoleukodystrophy

Go to external page http://purl.obolibrary.org/obo/NCIT_C61252

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. [ ]

Term info

Label

Adrenoleukodystrophy

Synonyms
  • Adrenoleukodystrophy
  • Schilder Disease
Subsets

NCIT_C90259, NCIT_C118168, 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, NICHD

Display Name

Adrenoleukodystrophy

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C85239

Legacy Concept Name

Adrenoleukodystrophy

NICHD Hierarchy Term

Adrenoleukodystrophy

Preferred Name

Adrenoleukodystrophy

Semantic Type

Disease or Syndrome

UMLS CUI

C0162309

code

C61252