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X-linked cerebral adrenoleukodystrophy

Disease definition

A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade.

ORPHA:139396

Classification level: Subtype of disorder
  • Synonym(s):
    • X-CALD
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: All ages
  • ICD-10: E71.3
  • ICD-11: 5C57.1
  • OMIM: 300100
  • UMLS: -
  • MeSH: -
  • GARD: 9412
  • MedDRA: -

  A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021) Português (2021) Deutsch (2013) Italiano (2013) Polski (2013, pdf)

Detailed information

General public

Guidelines

Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.