Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Hereditary Central Nervous System Demyelinating Diseases
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Hereditary Central Nervous System Demyelinating Diseases
...
Central Nervous System Diseases
Brain Diseases
Leukoencephalopathies
Hereditary Central Nervous System Demyelinating Diseases
Nervous System Diseases
Demyelinating Diseases
Hereditary Central Nervous System Demyelinating Diseases
...
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
...
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
...
Metabolic Diseases
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
...
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Peroxisomal Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Peroxisomal Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
...
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
...
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Preferred term
Adrenoleukodystrophy
Type
-
Topical Descriptor
Broader concept
Entry terms
- Addison Disease and Cerebral Sclerosis
- Adrenoleukodystrophy, X-Linked
- ALD (Adrenoleukodystrophy)
- Bronze Schilder Disease
- Leukodystrophies, Melanodermic
- Leukodystrophy, Melanodermic
- Melanodermic Leukodystrophy
- Schilder Addison Complex
- Schilder-Addison Complex
- Siemerling Creutzfeldt Disease
- Siemerling-Creutzfeldt Disease
- X ALD
- X-ALD
- X ALD (X Linked Adrenoleukodystrophy)
- X-ALD (X-Linked Adrenoleukodystrophy)
- X Linked Adrenoleukodystrophy
- X-Linked Adrenoleukodystrophy
Note
- do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS
Scope note
- An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).
History note
- 1991(1983)
In other languages
-
Finnish
-
adrenoleukodystrophia
-
Swedish
-
Addison–Schilders sjukdom
-
Adrenomyeloneuropati
-
Siemerling–Creutzfeldts sjukdom
URI
http://www.yso.fi/onto/mesh/D000326
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