- Concept UI
- M0000501
- 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).
- Terms
-
Adrenoleukodystrophy
Preferred Term
Term UI
T001071
Date01/01/1999
LexicalTag
NON
ThesaurusID
-
Bronze Schilder Disease
Term UI
T000880984
Date06/01/2015
LexicalTag
NON
ThesaurusID
-
Melanodermic Leukodystrophy
Term UI
T000880985
Date06/01/2015
LexicalTag
NON
ThesaurusID
-
Siemerling-Creutzfeldt Disease
Term UI
T000880986
Date06/01/2015
LexicalTag
NON
ThesaurusID
-
Schilder-Addison Complex
Term UI
T366221
Date11/03/1999
LexicalTag
EPO
ThesaurusID
-
X-Linked Adrenoleukodystrophy
Term UI
T366222
Date11/03/1999
LexicalTag
NON
ThesaurusID
-
ALD (Adrenoleukodystrophy)
Term UI
T366223
Date11/03/1999
LexicalTag
ABX
ThesaurusID
-
X-ALD (X-Linked Adrenoleukodystrophy)
Term UI
T843481
Date05/02/2013
LexicalTag
NON
ThesaurusID
-
Addison Disease and Cerebral Sclerosis
Term UI
T000880983
Date06/01/2015
LexicalTag
NON
ThesaurusID
-
X-ALD
Term UI
T845603
Date06/13/2013
LexicalTag
NON
ThesaurusID
NLM (2014)