| Descriptor English: | Adrenoleukodystrophy | ||||||
| Descriptor Spanish: |
Adrenoleucodistrofia
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| Descriptor Portuguese: | Adrenoleucodistrofia | ||||||
| Descriptor French: | Adrénoleucodystrophie | ||||||
| Entry term(s): |
ALD (Adrenoleukodystrophy) Addison Disease and Cerebral Sclerosis Adrenoleukodystrophy, X-Linked Adrenomyeloneuropathy 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 Linked Adrenoleukodystrophy) X Linked Adrenoleukodystrophy X-ALD X-ALD (X-Linked Adrenoleukodystrophy) X-Linked Adrenoleukodystrophy |
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| Tree number(s): |
C10.228.140.163.100.084 C10.228.140.163.100.362.250 C10.228.140.695.625.250 C10.314.400.250 C10.597.606.360.455.124 C16.320.322.500.124 C16.320.400.525.124 C16.320.565.189.084 C16.320.565.189.362.250 C16.320.565.663.100 C18.452.132.100.084 C18.452.132.100.362.250 C18.452.648.189.084 C18.452.648.189.362.250 C18.452.648.663.100 C19.053.500.270 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D000326 | ||||||
| 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). |
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| Annotation: | do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Adrenal Gland Hypofunction (1968-1982) Cerebral Sclerosis, Diffuse (1966-1982) Demyelinating Diseases (1966-1982) |
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| Public MeSH Note: | 1991; see CEREBRAL SCLEROSIS, DIFFUSE 1983-1990 |
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| History Note: | 1991(1983) |
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| Related: |
ATP-Binding Cassette Transporters
MeSH | ||||||
| DeCS ID: | 328 | ||||||
| Unique ID: | D000326 | ||||||
| NLM Classification: | WD 205.5.L5 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1982/04/27 | ||||||
| Revision Date: | 2018/06/30 |
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Adrenoleukodystrophy
- Preferred
Adrenomyeloneuropathy
- Related but not broader or narrower
| 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). |
| Preferred term | Adrenoleukodystrophy |
| Entry term(s) |
ALD (Adrenoleukodystrophy) Addison Disease and Cerebral Sclerosis Adrenoleukodystrophy, X-Linked 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 Linked Adrenoleukodystrophy) X Linked Adrenoleukodystrophy X-ALD X-ALD (X-Linked Adrenoleukodystrophy) X-Linked Adrenoleukodystrophy |
| Concept UI |
M0000502 |
| Preferred term | Adrenomyeloneuropathy |
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