| ID | NIF_Dysfunction:birnlex_12527 |
|---|---|
| ID Space | NIF_Dysfunction |
| Name | Adrenoleukodystrophy |
| Ontology | birnlex_anatomy |
| 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). |
| http://www.w3.org/2004/02/skos/core#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). |
| http://www.w3.org/2004/02/skos/core#prefLabel | Adrenoleukodystrophy |
| http://www.w3.org/2004/02/skos/core#scopeNote | Do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS (MeSH) |
| nif_annot:hasBirnlexCurator | http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug |
| nif_annot:hasCurationStatus | http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated |
| nif_obo_annot:MeshUid | D000326 |
| nif_obo_annot:acronym | ALD |
| nif_obo_annot:createdDate | 2007-10-05 |
| nif_obo_annot:definingCitationURI | http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm |
| nif_obo_annot:hasExternalSource | http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH |
| nif_obo_annot:modifiedDate | 2007-10-05 |
| nif_obo_annot:synonym | Adrenomyeloneuropathy |
| nif_obo_annot:synonym | Schilder-Addison Complex |
| nif_obo_annot:synonym | X-Linked Adrenoleukodystrophy |
| Synonym | Adrenomyeloneuropathy |
| Synonym | Schilder-Addison Complex |
| Synonym | X-Linked Adrenoleukodystrophy |
| is_a | Hereditary Central Nervous System Demyelinating Diseases |
