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Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia

^ http://www.orpha.net/ORDO/Orphanet_313808


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.

Synonyms: Familial dementia, Neumann type, Pigmentary orthochromatic leukodystrophy, POLD, HDLS, Subcortical gliosis of Neumann, Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, ALSP, Autosomal dominant leukoencephalopathy with neuroaxonal spheroids, Familial progressive subcortical gliosis, Hereditary diffuse leukoencephalopathy with spheroids, GPSC, FPSG

Term info

database cross reference
  • UMLS:C3711381 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E75.2 (Attributed)
  • OMIM:221820 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E75.2 (NTBT (narrower term maps to a broader term))
hasDbXref

OMIM:221820, UMLS:C3711381, ICD-10:E75.2

notation

ORPHA:313808