Details of Disease | DrugMAP

General Information of Disease (ID: DIS64L9O)

Disease Name	Leukoencephalopathy, diffuse hereditary, with spheroids 1
Synonyms	hereditary diffuse leukoencephalopathy with axonal spheroids; neuroaxonal leukodystrophy; adult-onset leukodystrophy with neuroaxonal spheroids; HDLS; leukoencephalopathy, diffuse hereditary, with spheroids; hereditary diffuse leukoencephalopathy with spheroids; leukoencephalopathy, hereditary diffuse, with spheroids; ALSP; leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia; subcortical gliosis of Neumann; gliosis, familial progressive subcortical; Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia; familial dementia, Neumann type; dementia, familial, Neumann type; familial progressive subcortical gliosis; autosomal dominant leukoencephalopathy with neuroaxonal spheroids; GPSC; pigmentary orthochromatic leukodystrophy; FPSG; CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; CSF1R-related ALSP; leukoencephalopathy with neuroaxonal spheroids, autosomal dominant; adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; POLD
Definition	A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.
Disease Hierarchy	DISVY1TT: Leukodystrophy DIS4DF8A: Leukoencephalopathy, hereditary diffuse, with spheroids DIS64L9O: Leukoencephalopathy, diffuse hereditary, with spheroids 1
Disease Identifiers	MONDO ID MONDO_0800027 UMLS CUI C5561929 OMIM ID 221820 MedGen ID 1794139 Orphanet ID 313808

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSF1R	TT7MRDV	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSF1R	OTDYTB9C	Strong	Autosomal dominant	[1]
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References

1	Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027.