X-linked adrenoleukodystrophy. 1996

R P Bruyn

UI MeSH Term Description Entries
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000326 Adrenoleukodystrophy 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). Adrenomyeloneuropathy,Schilder-Addison Complex,X-Linked Adrenoleukodystrophy,ALD (Adrenoleukodystrophy),Addison Disease and Cerebral Sclerosis,Bronze Schilder Disease,Melanodermic Leukodystrophy,Siemerling-Creutzfeldt Disease,X-ALD,X-ALD (X-Linked Adrenoleukodystrophy),Adrenoleukodystrophy, X-Linked,Leukodystrophies, Melanodermic,Leukodystrophy, Melanodermic,Schilder Addison Complex,Siemerling Creutzfeldt Disease,X ALD,X ALD (X Linked Adrenoleukodystrophy),X Linked Adrenoleukodystrophy
D014960 X Chromosome The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species. Chromosome, X,Chromosomes, X,X Chromosomes
D015493 Paraparesis, Tropical Spastic A subacute paralytic myeloneuropathy occurring endemically in tropical areas such as the Caribbean, Colombia, India, and Africa, as well as in the southwestern region of Japan; associated with infection by HUMAN T-CELL LEUKEMIA VIRUS I. Clinical manifestations include a slowly progressive spastic weakness of the legs, increased reflexes, Babinski signs, incontinence, and loss of vibratory and position sensation. On pathologic examination inflammatory, demyelination, and necrotic lesions may be found in the spinal cord. (Adams et al., Principles of Neurology, 6th ed, p1239) HTLV-I-Associated Myelopathy,Tropical Spastic Paraparesis,Familial Spastic Paraparesis, Htlv-1-Associated,HTLV I Associated Myelopathies,HTLV-I-Associated Myelopathy-Tropical Spastic Paraparesis,Human T-Lymphotropic Virus Type 1 Associated Myelopathy,Myelopathies, HTLV I Associated,Myelopathy, Htlv-1-Associated,Myelopathy, Human T-Lymphotropic Virus Type 1 Associated,Paraplegia, Tropical Spastic,Familial Spastic Paraparesis, Htlv 1 Associated,HTLV I Associated Myelopathy,HTLV I Associated Myelopathy Tropical Spastic Paraparesis,HTLV-I-Associated Myelopathies,Htlv-1-Associated Myelopathies,Htlv-1-Associated Myelopathy,Human T Lymphotropic Virus Type 1 Associated Myelopathy,Myelopathies, HTLV-I-Associated,Myelopathies, Htlv-1-Associated,Myelopathy, HTLV-I-Associated,Myelopathy, Htlv 1 Associated,Myelopathy, Human T Lymphotropic Virus Type 1 Associated,Parapareses, Tropical Spastic,Paraplegias, Tropical Spastic,Spastic Parapareses, Tropical,Spastic Paraparesis, Tropical,Spastic Paraplegia, Tropical,Spastic Paraplegias, Tropical,Tropical Spastic Parapareses,Tropical Spastic Paraplegia,Tropical Spastic Paraplegias

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