MCID: C9R003
MIFTS: 11

C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

Categories: Mental diseases

Aliases & Classifications for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

MalaCards integrated aliases for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis:

Name: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 25
C9orf72-Ftd/als 25

Characteristics:

GeneReviews:

25
Penetrance Heterozygosity for a pathogenic c9orf72 g4c2 repeat expansion is associated with age-dependent reduced penetrance, with the youngest individuals developing disease in their twenties and a small number of heterozygotes remaining asymptomatic in their nineties. age-dependent penetrance is estimated as follows [benussi et al 2015, murphy et al 2017]:...

Classifications:



Summaries for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

MalaCards based summary : C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis, also known as c9orf72-ftd/als, is related to frontotemporal dementia and lateral sclerosis. An important gene associated with C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis is C9orf72 (C9orf72-SMCR8 Complex Subunit).

GeneReviews: NBK268647

Related Diseases for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

Diseases related to C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia 30.2 LOC109504728 C9orf72
2 lateral sclerosis 30.1 LOC109504728 C9orf72
3 amyotrophic lateral sclerosis 1 10.4
4 motor neuron disease 10.4
5 dementia 9.7 LOC109504728 C9orf72
6 gangliocytoma 9.6 LOC109504728 C9orf72
7 aphasia 9.6 LOC109504728 C9orf72
8 hereditary spastic paraplegia 9.5 LOC109504728 C9orf72

Graphical network of the top 20 diseases related to C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis:



Diseases related to C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

Symptoms & Phenotypes for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

Drugs & Therapeutics for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

Search Clinical Trials , NIH Clinical Center for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

Genetic Tests for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

Anatomical Context for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

Publications for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

Articles related to C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis:

(show top 50) (show all 72)
# Title Authors PMID Year
1
C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD? 25
32876811 2020
2
Amyotrophic lateral sclerosis: a clinical review. 25
32526057 2020
3
Development of disease-modifying drugs for frontotemporal dementia spectrum disorders. 25
32203398 2020
4
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study. 25
31810826 2020
5
Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial. 25
31280619 2020
6
Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers. 25
32000838 2020
7
The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database. 25
31126629 2019
8
C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy. 25
31327044 2019
9
Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers. 25
31578300 2019
10
An update on genetic frontotemporal dementia. 25
31119452 2019
11
C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis. 25
31009932 2019
12
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers. 25
30337192 2019
13
Amyotrophic Lateral Sclerosis: An Update for 2018. 25
30401437 2018
14
C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature. 25
30637277 2018
15
Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum. 25
30349865 2018
16
Genotype-phenotype links in frontotemporal lobar degeneration. 25
29777184 2018
17
The Genetics of C9orf72 Expansions. 25
28130313 2018
18
Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study. 25
29172163 2018
19
Added Diagnostic Value of Cerebrospinal Fluid Biomarkers for Differential Dementia Diagnosis in an Autopsy-Confirmed Cohort. 25
29614653 2018
20
Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics. 25
29264395 2017
21
Rethinking Unconventional Translation in Neurodegeneration. 25
29149615 2017
22
Diagnosing, monitoring and managing behavioural variant frontotemporal dementia. 25
28954617 2017
23
Relationship between C9orf72 repeat size and clinical phenotype. 25
28319737 2017
24
Age-related penetrance of the C9orf72 repeat expansion. 25
28522837 2017
25
Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion. 25
28192553 2017
26
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. 25
26481318 2016
27
The Prevalence and Incidence of Frontotemporal Dementia: a Systematic Review. 25
27307130 2016
28
Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature. 25
26810719 2016
29
Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD. 25
25712133 2015
30
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
31
Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. 25
25308964 2015
32
C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study. 25
25737153 2015
33
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. 25
25326098 2014
34
Parkinsonian syndrome in familial frontotemporal dementia. 25
24998994 2014
35
Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. 25
24756204 2014
36
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. 25
24706941 2014
37
Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile. 25
24445580 2014
38
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. 25
24363131 2014
39
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. 25
24132570 2013
40
C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles. 25
24107864 2013
41
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. 25
24011653 2013
42
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. 25
23818065 2013
43
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum. 25
23746459 2013
44
Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients. 25
23261768 2013
45
C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment. 25
23352322 2013
46
C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. 25
23588422 2013
47
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians. 25
23107433 2013
48
Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. 25
23012445 2013
49
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. 25
23381195 2013
50
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. 25
23434116 2013

Variations for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

Expression for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

Search GEO for disease gene expression data for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis.

Pathways for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

GO Terms for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

Sources for C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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