adult-onset autosomal dominant demyelinating leukodystrophy

Summary

DOID:0060785 - adult-onset autosomal dominant demyelinating leukodystrophy

Disease Ontology 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.

Synonyms: ADLD, adult-onset autosomal dominant leukodystrophy, autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lmnb1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008215 - adult-onset autosomal dominant demyelinating leukodystrophy

MONDO:0008215 - adult-onset autosomal dominant demyelinating leukodystrophy

MIM:

MIM:169500 - LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT, TYPICAL; ADLDTY

MIM:169500 - LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT, TYPICAL; ADLDTY

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), leukodystrophy (is_a)