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hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.
Uniprot Description An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes.
Mondo Term and Equivalent IDs
MONDO:0009096:  hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
DOID:0080523: 
GARD:0010981: 
MESH:C580150: 
NCIT:C153289: 
Orphanet:313808: 
SCTID:702427005: 
UMLS:C3711381: