Typical Adult-Onset Autosomal Domit Demyelinating Leukodystrophy
Disease ID: disease_node_19956
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| Dbxref | GARD:10587, MIM:169500, SNOMEDCT_US_2023_03_01:448054001, UMLS_CUI:C3164344 |
|---|---|
| Subclassof | DOID_0050736, DOID_0051015 |
| Data Source | DOID |
| Synonyms | ADLD, adult-onset autosomal dominant leukodystrophy, autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease |
| Doid Label | typical adult-onset autosomal domit demyelinating leukodystrophy |
| Doid Description | 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. |
| Existence Starts During | HP_0003581 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19956 |
| Doid Id | DOID_0060785 |
| Label | Typical Adult-Onset Autosomal Domit Demyelinating Leukodystrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Adult Onset Demyelinating Leukodystrophy(ID:disease_node_19955) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)