MCID: C9R002
MIFTS: 13

C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Categories: Mental diseases

Aliases & Classifications for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

MalaCards integrated aliases for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia:

Name: C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia 24
C9orf72-Related Als/ftd 24
C9ftd/als 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance related to c9orf72 g4c2 repeat size has not yet been fully studied....

Classifications:



Summaries for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

MalaCards based summary : C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia, also known as c9orf72-related als/ftd, is related to lateral sclerosis and amyotrophic lateral sclerosis 1. An important gene associated with C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia is C9orf72 (C9orf72-SMCR8 Complex Subunit). Affiliated tissues include testes.

GeneReviews: NBK268647

Related Diseases for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 lateral sclerosis 30.1 LOC109504728 C9orf72
2 amyotrophic lateral sclerosis 1 10.6
3 frontotemporal dementia 10.6
4 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.4
5 dementia 10.4
6 motor neuron disease 10.4
7 tremor 10.4
8 ataxia and polyneuropathy, adult-onset 10.1
9 spinocerebellar ataxia 36 10.1
10 helix syndrome 10.1
11 autosomal dominant cerebellar ataxia 10.1

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



Diseases related to C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Symptoms & Phenotypes for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

Drugs & Therapeutics for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

Search Clinical Trials , NIH Clinical Center for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Genetic Tests for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

Anatomical Context for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

MalaCards organs/tissues related to C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia:

41
Testes

Publications for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

Articles related to C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. 4
25326098 2014
2
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. 4
24549040 2014
3
Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. 4
24756204 2014
4
Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria. 4
24849862 2014
5
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. 4
24706941 2014
6
Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile. 4
24445580 2014
7
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. 4
24493408 2014
8
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. 4
24363131 2014
9
C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study. 4
24064469 2014
10
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. 4
24132570 2013
11
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. 4
24011653 2013
12
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum. 4
23746459 2013
13
Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients. 4
23261768 2013
14
Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. 4
23088937 2013
15
Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation. 4
23566336 2013
16
Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. 4
23012445 2013
17
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. 4
23381195 2013
18
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. 4
23338682 2013
19
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. 4
23393093 2013
20
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. 4
23434116 2013
21
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. 4
22650353 2013
22
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. 4
23111906 2013
23
The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs. 4
23329412 2013
24
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. 4
22692064 2013
25
Investigation of c9orf72 in 4 neurodegenerative disorders. 4
22964832 2012
26
Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. 4
22721568 2012
27
A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan. 4
22673113 2012
28
Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. 4
22875087 2012
29
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. 4
22406228 2012
30
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. 4
22366793 2012
31
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. 4
22366794 2012
32
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. 4
22366795 2012
33
Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. 4
22228244 2012
34
Repeat expansion in C9ORF72 in Alzheimer's disease. 4
22216764 2012
35
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. 4
22154785 2012
36
Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease. 4
23248642 2012
37
Cognitive and behavioral features of c9FTD/ALS. 4
22817642 2012
38
Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions. 4
23006986 2012
39
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. 4
22083254 2011
40
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. 4
21944778 2011
41
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 4
21944779 2011
42
Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management. 4
20369906 2010
43
The prevalence of frontotemporal dementia. 4
12058088 2002
44
Amyotrophy in prion diseases. 4
10634430 2000
45
Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study. 4
10025778 1999
46
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats. 38
31358992 2019
47
C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo. 38
31086314 2019
48
Non-coding RNA in C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia: A perfect storm of dysfunction. 38
30533567 2018
49
Insights into C9ORF72-Related ALS/FTD from Drosophila and iPSC Models. 38
29729808 2018
50
Non-invasive in vivo neuropathology of the C9orf72-related ALS-FTD syndrome. 38
29054918 2018

Variations for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

Expression for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

Search GEO for disease gene expression data for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Pathways for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

GO Terms for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

Sources for C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal...

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