Details of Disease | DrugMAP

General Information of Disease (ID: DISDD18L)

Disease Name	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Synonyms	Dmt1; dementia, familial nonspecific; CHMP2B amyotrophic lateral sclerosis; FTD3; frontotemporal dementia, chromosome 3-linked; amyotrophic lateral sclerosis, Chmp2B-related; CHMP2B-related amyotrophic lateral sclerosis; amyotrophic lateral sclerosis caused by mutation in CHMP2B
Definition	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.
Disease Hierarchy	DISWZ9CJ: Familial amyotrophic lateral sclerosis DISQHX2V: Behavioral variant of frontotemporal dementia DIS2B7L2: Frontotemporal dementia and/or amyotrophic lateral sclerosis DISDD18L: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Disease Identifiers	MONDO ID MONDO_0010936 MESH ID C579991 UMLS CUI C1833296 OMIM ID 600795 MedGen ID 318833 SNOMED CT ID 702393003

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
SLC11A2	TT2IS7P	Strong	Biomarker	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DMRT1	OT5PU9U1	Strong	Biomarker	[2]
CHMP2B	OTZA7RJB	Definitive	Autosomal dominant	[3]
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References

1	The Divalent Metal Transporter 1 (DMT1) Is Required for Iron Uptake and Normal Development of Oligodendrocyte Progenitor Cells.J Neurosci. 2018 Oct 24;38(43):9142-9159. doi: 10.1523/JNEUROSCI.1447-18.2018. Epub 2018 Sep 6.
2	A novel proton transfer mechanism in the SLC11 family of divalent metal ion transporters.Sci Rep. 2017 Jul 28;7(1):6194. doi: 10.1038/s41598-017-06446-y.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.