Details of Disease | DrugMAP

General Information of Disease (ID: DIS4DF8A)

Disease Name	Leukoencephalopathy, hereditary diffuse, with spheroids
Disease Hierarchy	DISYKSRF: Genetic disease DIS4DF8A: Leukoencephalopathy, hereditary diffuse, with spheroids
Disease Identifiers	MONDO ID MONDO_0030796 MESH ID C580150 UMLS CUI C3711381 MedGen ID 777989 SNOMED CT ID 702427005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSF1R	TT7MRDV	Limited	Biomarker	[1]
CSF1	TT0IQER	moderate	Genetic Variation	[2]
CTSA	TT5NILS	Strong	Biomarker	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AARS1	OTW8D813	Strong	Genetic Variation	[4]
AARS2	OTOB0KSG	Strong	Biomarker	[5]
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References

1	Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy.Eur J Neurol. 2020 Feb;27(2):369-375. doi: 10.1111/ene.14086. Epub 2019 Oct 15.
2	slan-defined subsets of CD16-positive monocytes: impact of granulomatous inflammation and M-CSF receptor mutation.Blood. 2015 Dec 10;126(24):2601-10. doi: 10.1182/blood-2015-06-651331. Epub 2015 Oct 6.
3	Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.Int J Mol Sci. 2019 Sep 3;20(17):4298. doi: 10.3390/ijms20174298.
4	An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.Acta Neuropathol Commun. 2019 Nov 27;7(1):188. doi: 10.1186/s40478-019-0843-y.
5	AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.J Neuropathol Exp Neurol. 2018 Nov 1;77(11):997-1000. doi: 10.1093/jnen/nly087.