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Neuroscience Information Framework (NIF) Dysfunction Ontlogy
Last uploaded:
April 11, 2018
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| Preferred Name | Adrenoleukodystrophy | |
| Synonyms |
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| Definitions |
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) (MeSH). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12527 |
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| acronym |
ALD
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| createdDate |
2007-10-05
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| definingCitationURI |
http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm |
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| definition |
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) (MeSH).
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| editorial note | ||
| hasBirnlexCurator | ||
| hasCurationStatus | ||
| hasExternalSource | ||
| label |
Adrenoleukodystrophy
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| MeshUid |
D000326
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| modifiedDate |
2007-10-05
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| note |
Do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS (MeSH) 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) (MeSH).
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| preferred label |
Adrenoleukodystrophy
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| scope note |
Do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS (MeSH)
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| synonym |
Adrenomyeloneuropathy X-Linked Adrenoleukodystrophy Schilder-Addison Complex
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| subClassOf |
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