Details of Disease

General Information of Disease (ID: DIS8SB8X)

• Disease Name: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
• Synonyms: FTDALS1; frontotemporal dementia and/or amyotrophic lateral sclerosis; frontotemporal dementia and/or motor neuron disease; frontotemporal dementia and/or amyotrophic lateral sclerosis 1; frontotemporal dementia and/or amyotrophic lateral sclerosis type 1; frontotemporal dementia with motor neuron disease caused by mutation in C9orf72; frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72; amyotrophic lateral sclerosis and/or frontotemporal dementia; C9orf72 frontotemporal dementia with motor neuron disease; FTDMND; ALSFTD; C9ORF72 frontotemporal dementia with motor neuron disease
• Definition: Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.
• Disease Hierarchy:
  DISPZM6A: Frontotemporal dementia with motor neuron disease
  DISWZ9CJ: Familial amyotrophic lateral sclerosis
  DIS2B7L2: Frontotemporal dementia and/or amyotrophic lateral sclerosis
  DIS8SB8X: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
• Disease Identifiers:
  MONDO ID: MONDO_0007105
  MESH ID: C566288
  UMLS CUI: C3888102
  OMIM ID: 105550
  MedGen ID: 854771
  SNOMED CT ID: 1259124000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
C9orf72	TTA4SHR	Limited	Genetic Variation	[1]
FUS	TTKGYZ9	moderate	SusceptibilityMutation	[2]
SQSTM1	TTOT2RY	Strong	CausalMutation	[3]
VCP	TTHNLSB	Strong	GermlineCausalMutation	[4]
C9orf72	TTA4SHR	Definitive	Autosomal dominant	[5]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHMP2B	OTZA7RJB	moderate	Biomarker	[6]
CHCHD10	OTCDHAM6	Strong	Genetic Variation	[7]
IGFALS	OTTWCZYM	Strong	Biomarker	[8]
C9orf72	OT0WH38E	Definitive	Autosomal dominant	[5]

References

• [1] C9ORF72 hexanucleotide repeat expansion frequency in patients with Paget's disease of bone.Neurobiol Aging. 2020 Jan;85:154.e1-154.e3. doi: 10.1016/j.neurobiolaging.2019.08.014. Epub 2019 Aug 21.
• [2] Clinic, neuropathology and molecular genetics of frontotemporal dementia: a mini-review.Transl Neurodegener. 2013 Apr 19;2(1):8. doi: 10.1186/2047-9158-2-8.
• [3] Targeted next-generation sequencing assay for detection of mutations in primary myopathies.Neuromuscul Disord. 2016 Jan;26(1):7-15. doi: 10.1016/j.nmd.2015.10.003. Epub 2015 Nov 25.
• [4] Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010 Dec 9;68(5):857-64. doi: 10.1016/j.neuron.2010.11.036.
• [5] 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.
• [6] CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.Hum Mol Genet. 2008 Jan 15;17(2):313-22. doi: 10.1093/hmg/ddm309. Epub 2007 Oct 22.
• [7] Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.Neurobiol Dis. 2018 Nov;119:159-171. doi: 10.1016/j.nbd.2018.07.027. Epub 2018 Aug 6.
• [8] The motor band sign in ALS: presentations and frequencies in a consecutive series of ALS patients.J Neurol Sci. 2019 Nov 15;406:116440. doi: 10.1016/j.jns.2019.116440. Epub 2019 Aug 30.