C9orf72, C9orf72-SMCR8 complex subunit, 203228

N. diseases: 258; N. variants: 16
Disease: Nonorganic psychosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 GeneticVariation disease BEFREE Thalamus degeneration was identified only in bvFTD cases with the C9ORF72 repeat expansion, and to a similar extent in cases with and without psychosis. 28482638 2017
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 GeneticVariation disease BEFREE The pathogenic repeat expansion [GGGGCC]<sub>n</sub> found at the C9orf72 locus is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and has also been documented in patients with psychosis and schizophrenia. 28320191 2017
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 GeneticVariation disease BEFREE Despite the high frequency of psychiatric symptoms in bvFTD patients and the extremely high prevalence of the C9ORF72 expansion in Finland, pathogenic expansion (>40 repeats) was not detected among the Northern Finland Birth Cohort 1966 individuals with psychosis, indicating that these disorders, especially schizophrenia before the age of 43 years, may not be associated with the C9ORF72 expansion. 26862832 2016
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 Biomarker disease BEFREE C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis. 26723138 2016
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 Biomarker disease BEFREE In our study, we aimed to screen patients affected by atypical parkinsonian syndromes or PD complicated by psychosis or dementia for the presence of C9ORF72 repeat expansions, and in unrelated age- and sex-matched healthy controls. 26275564 2015
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 GeneticVariation disease BEFREE In contrast, C9ORF72-FTLD is predominantly associated with behavioural variant FTD, which often presents with psychosis, most commonly in the form of hallucinations and delusions. 24493408 2014
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 Biomarker disease BEFREE Here, we genotyped the repeat at C9ORF72 in a large Irish psychosis case-control sample (n = 2477).We found no carriers of >30 repeats. 24411481 2014
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 GeneticVariation disease BEFREE Results revealed: 1) prevalence is approximately 10%, 2) TDP-43 type B and FUS pathologies might have relatively high frequency of psychosis, 3) psychosis in FTD is higher with genetic mutations of C9ORF72 and GRN, 4) imaging researches did not achieve conclusive results, and 5) no treatment for psychosis in FTD is currently available. 24898651 2014
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 Biomarker disease PSYGENET Patients with frontotemporal lobar degeneration with the C9ORF72 repeat expansion are more likely than those without to present with psychosis. 23036583 2013
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 Biomarker disease PSYGENET Detailed histories revealed a higher prevalence of psychosis, including visual and auditory hallucinations and delusions, in the 8 C9ORF72 carriers than in our patients with sporadic FTD. 24077574 2013
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 GeneticVariation disease BEFREE Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort. 24077574 2013
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 GeneticVariation disease BEFREE The repeat expansion in C9ORF72 is a common cause of FTLD and often presents with late-onset psychosis or memory impairment. 23473366 2013
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 Biomarker disease BEFREE Patients with frontotemporal lobar degeneration with the C9ORF72 repeat expansion are more likely than those without to present with psychosis. 23036583 2013
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 Biomarker disease PSYGENET The repeat expansion in C9ORF72 is a common cause of FTLD and often presents with late-onset psychosis or memory impairment. 23473366 2013
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.400 GeneticVariation disease BEFREE Thirty-eight per cent of the patients with C9ORF72 mutations presented with psychosis, with a further 28% exhibiting paranoid, deluded or irrational thinking, whereas <4% of non-mutation bearers presented similarly. 22300873 2012