FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ID (Ontology) DOID:0080523 (Human Disease)
Definition A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32.
Also Known As "hereditary diffuse leukoencephalopathy with spheroids"
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 Genes
 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia       1
 for disease ribbon | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia       1
 model of | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
cerebral degeneration           |
 |__leukodystrophy______________|
                                adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  1 rec.
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Is a autosomal dominant disease
leukodystrophy
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Synonyms
  • "hereditary diffuse leukoencephalopathy with spheroids" EXACT
Secondary IDs
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GARD:10981
MIM:221820
ORDO:313808