Details of Disease

General Information of Disease (ID: DISI9BHV)

Disease Name Amyotrophic lateral sclerosis type 10
Synonyms
frontotemporal dementia with Tdp43 inclusions, Tardbp-related; Ftld-TDP, Tardbp-related; amyotrophic lateral sclerosis 10 with or without frontotemporal dementia; frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related; amyotrophic lateral sclerosis 10, with or without FTD; TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions; amyotrophic lateral sclerosis 10; TARDBP amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 10; ALS10; amyotrophic lateral sclerosis 10, with or without frontotemporal dementia; frontotemporal lobar degeneration, TARDBP-related; amyotrophic lateral sclerosis caused by mutation in TARDBP
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene.
Disease Hierarchy
DISPZM6A: Frontotemporal dementia with motor neuron disease
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISI9BHV: Amyotrophic lateral sclerosis type 10
Disease Identifiers
MONDO ID
MONDO_0012790
MESH ID
C567429
UMLS CUI
C2677565
OMIM ID
612069
MedGen ID
383137
SNOMED CT ID
1208412003

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
TARDBP TT9RZ03 Limited Biomarker [1]
TARDBP TT9RZ03 Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TARDBP OTVOSFWW Definitive Autosomal dominant [2]
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References

1 TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD.Nat Neurosci. 2018 Apr;21(4):552-563. doi: 10.1038/s41593-018-0113-5. Epub 2018 Mar 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.