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adult-onset autosomal dominant demyelinating leukodystrophy
Summary
- Synonym
-
- ADLD
- adult-onset autosomal dominant leukodystrophy
- autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
- Definition
- A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q.
- Super Class
- autosomal dominant disease leukodystrophy
External Links
- Disease Ontology
- DOID:0060785
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P13591 | Neural cell adhesion molecule 1 |
