Details of Disease | DrugMAP

General Information of Disease (ID: DISYI9SD)

Disease Name	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Synonyms	frontotemporal dementia and/or amyotrophic lateral sclerosis 4; FTDALS4; frontotemporal dementia and/or amyotrophic lateral sclerosis type 4
Definition	An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.
Disease Hierarchy	DISPZM6A: Frontotemporal dementia with motor neuron disease DISWZ9CJ: Familial amyotrophic lateral sclerosis DIS2B7L2: Frontotemporal dementia and/or amyotrophic lateral sclerosis DISYI9SD: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Disease Identifiers	MONDO ID MONDO_0014641 UMLS CUI C4225325 OMIM ID 616439 MedGen ID 902979

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TBK1	TTMP03S	Strong	CausalMutation	[1]
TBK1	TTH5TC2	Definitive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBK1	OT1P06NV	Definitive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19.
2	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.