Details of Disease

General Information of Disease (ID: DIS8ZMZ8)

Disease Name Amyotrophic lateral sclerosis type 6
Synonyms
amyotrophic lateral sclerosis 6 with or without frontotemporal dementia; FUS amyotrophic lateral sclerosis; amyotrophic lateral sclerosis 6, with or without frontotemporal dementia; amyotrophic lateral sclerosis caused by mutation in FUS; autosomal recessive amyotrophic lateral sclerosis 6; ALS6
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene.
Disease Hierarchy
DISPZM6A: Frontotemporal dementia with motor neuron disease
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DIS8ZMZ8: Amyotrophic lateral sclerosis type 6
Disease Identifiers
MONDO ID
MONDO_0011951
MESH ID
C538251
UMLS CUI
C2931786
OMIM ID
608030
MedGen ID
419901
SNOMED CT ID
1204334005

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
FUS TTKGYZ9 Strong Genetic Variation [1]
FUS TTKGYZ9 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
FUS OTPPNGQO Definitive Autosomal dominant [2]
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References

1 Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.J Biomol Struct Dyn. 2015;33(4):834-44. doi: 10.1080/07391102.2014.915762. Epub 2014 May 14.
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.