Details of Disease | DrugMAP

General Information of Disease (ID: DISKMF1F)

Disease Name	Obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISKMF1F: Obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia

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	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AARS2	OTOB0KSG	Supportive	Autosomal dominant	[2]
CSF1R	OTDYTB9C	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. JAMA Neurol. 2016 Dec 1;73(12):1433-1439. doi: 10.1001/jamaneurol.2016.2229.