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MIRAGE
typical adult-onset autosomal dominant demyelinating leukodystrophy
Summary
- Synonym
-
- ADLD
- adult-onset autosomal dominant leukodystrophy
- autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
- Definition
- An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes.
- Super Class
- adult onset demyelinating leukodystrophy autosomal dominant disease
External Links
- Disease Ontology
- DOID:0060785
- Mondo Disease Ontology
- UMLS
- GARD
- MGI genotype (from TogoID)
Related Genes
