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Disease Ontology Browser
typical adult-onset autosomal dominant demyelinating leukodystrophy (DOID:0060785)
Alliance: disease page
Synonyms: ADLD; adult-onset autosomal dominant leukodystrophy; autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
Alt IDs: OMIM:169500, UMLS_CUI:C3164344
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory