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
Displaying 1 entry
Gene ID Gene Symbol Description Source
4684 NCAM1 neural cell adhesion molecule 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P13591 Neural cell adhesion molecule 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024