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GTR Home > Conditions/Phenotypes > Adrenoleukodystrophy

Adrenoleukodystrophy

Synonyms
ADDISON DISEASE AND CEREBRAL SCLEROSIS; Adrenoleukodystrophy, X-Linked; BRONZE SCHILDER DISEASE; MELANODERMIC LEUKODYSTROPHY; SIEMERLING-CREUTZFELDT DISEASE
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: X-Linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) involves the central or peripheral nervous system and the adrenal cortex. The nervous system and adrenal glands are involved independently; thus, an affected male may be diagnosed with cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and/or primary adrenocortical insufficiency. CALD is characterized by progressive behavioral, cognitive, and neurologic deficits; onset of symptoms ranges from childhood (typically ages 4 to 8 years) to adolescence (ages 11 to 21 years) and adulthood. AMN is characterized by leg weakness, spasticity, clumsy gait, pain, and bladder and bowel dysfunction; onset is typically in the 20s and 30s. Onset of primary adrenocortical insufficiency ranges from age two years to adulthood (most commonly by age 7.5 years). Heterozygous females are not at increased risk to develop CALD, but are at increased risk to develop AMN and primary adrenocortical insufficiency with increasing age.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Gerald V Raymond
Ann B Moser
Ali Fatemi
view full author information

Available tests

135 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (135 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC42, ALD, ALDP, AMN, ABCD1
    Summary: ATP binding cassette subfamily D member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG Algorithm, 2023
    ACMG Algorithm, X-ALD: Elevated lysophosphatidylcholines C24:0, C26:0, 2023
  • ACMG ACT, 2023
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated lysophosphatidylcholines, X-Linked Adrenoleukodystrophy (X-ALD), 2023
  • AAP, 2021
    Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.
  • EuroGentest, 2011
    Clinical utility gene card for: adrenoleukodystrophy.

Molecular resources

Consumer resources

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