X-linked cerebral adrenoleukodystrophy

Orpha code: 139396OMIM code: 300100

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.

Disease data
Classification

Clinical subtype

Synonyms
X-CALD
ORPHA code
139396
OMIM code
300100
ICD10 code
E71.3
ICD11 code
5C57.1

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl