ITM2B, integral membrane protein 2B, 9445

N. diseases: 77; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GeneticVariation disease BEFREE Notably, ITM2B variants linked to familial Danish dementia and retinal dystrophy significantly attenuated the inhibition of GLUT9-mediated urate influx. 31695625 2019
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GeneticVariation disease BEFREE Molecular alterations in the ITM2B gene are associated with two neurodegenerative diseases, Familial British and Familial Danish dementia. 25557390 2015
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 Biomarker disease BEFREE Post-translational processing of wild type BRI2 and FBD-BRI2 result in the production of a 23-residue long Bri peptide and a 34-amino acid long ABri peptide, respectively, and ABri is found deposited in the brains of individuals with FBD. 25957407 2015
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 GeneticVariation disease BEFREE FBD is associated with a T to A single nucleotide transition in the stop codon of a gene encoding BRI2, leading to the production of an elongated precursor protein. 25261792 2014
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GeneticVariation disease BEFREE Here we investigated tau accumulation and truncation in double transgenic (Tg-FDD-Tau) mice generated by crossing transgenic mice expressing human Danish mutant BRI(2) (Tg-FDD) with mice expressing human 4-repeat mutant Tau-P301S (Tg-Tau). 23418567 2013
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 Biomarker disease BEFREE BRI2 deficiency of FDD provokes an increase in amyloid-β precursor protein (APP) processing since BRI2 is an inhibitor of APP proteolysis, and APP mediates the synaptic/memory deficits in FDD. 22170863 2012
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 GeneticVariation disease BEFREE FBD(KI) mice are a model of FBD that is genetically congruous to the human disease, because they carry one mutant and one wild-type Bri2/Itm2b allele. 22514310 2012
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 Biomarker disease BEFREE Here, we show that APP/Bri2 complexes are reduced in synaptic membranes of FDD(KI) mice. 21587206 2011
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GeneticVariation disease BEFREE An autosomal dominant mutation in the BRI2/ITM2B gene causes Familial Danish Dementia (FDD). 21841249 2011
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 Biomarker disease BEFREE Bri2(+/-) mice exhibit synaptic and memory deficits similar to FDD(KI/+) mice, and memory loss of FDD(KI/+) mice is prevented by expression of WT BRI2, indicating that Danish dementia is caused by loss of BRI2 function. 21098268 2010
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GeneticVariation disease BEFREE Familial British and Familial Danish Dementia (FBD and FDD) are two dominantly inherited neurodegenerative diseases that present striking similarities with Alzheimer's disease. 18440095 2010
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 AlteredExpression disease BEFREE We report that the British mutation drastically reduces expression of mature BRI2 in both KI mice and human FBD brains. 21048150 2010
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GeneticVariation disease BEFREE FDD is caused by a 10-nucleotide duplication-insertion in the BRI(2) gene that generates a larger-than-normal precursor protein, of which the Danish amyloid subunit (ADan) comprises the last 34 amino acids. 18410407 2009
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 Biomarker disease BEFREE The failure to demonstrate BRI2 in blood vessels under the conditions tested suggests that vascular amyloid peptide production does not contribute significantly to cerebral amyloid angiopathy (CAA) in FBD and FDD, lending indirect support to the drainage hypothesis of CAA. 18282158 2008
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 Biomarker disease BEFREE These findings suggest that neurones and glia and are a major source of BRI2 protein and that in FBD, the mutated precursor protein may undergo furin cleavage within neurones to produce the amyloid peptide ABri. 18282158 2008
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GeneticVariation disease BEFREE The chromosome 13 linked amyloidopathies familial British dementia (FBD) and familial Danish dementia (FDD) are caused by mutations in the C-terminus of the BRI2 gene. 16612985 2006
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 GeneticVariation disease BEFREE The chromosome 13 linked amyloidopathies familial British dementia (FBD) and familial Danish dementia (FDD) are caused by mutations in the C-terminus of the BRI2 gene. 16612985 2006
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GeneticVariation disease BEFREE Notably, BRI2 mutations cause familial British (FBD) and Danish dementias (FDD) that are clinically and pathologically similar to AD. 15983050 2005
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 Biomarker disease BEFREE In both conditions, the genetic defects cause the loss of the normal stop codon in the precursor BRI, generating novel 34-residue peptides named ABri and ADan in FBD and FDD, respectively. 15913558 2005
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 Biomarker disease BEFREE In both conditions, the genetic defects cause the loss of the normal stop codon in the precursor BRI, generating novel 34-residue peptides named ABri and ADan in FBD and FDD, respectively. 15913558 2005
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GeneticVariation disease BEFREE In FDD a decamer duplication between codons 265 and 266 in the 3' region of the BRI gene originates an amyloid peptide named ADan, 11 residues longer than the wild-type peptide produced from the normal BRI gene. 14690516 2004
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GeneticVariation disease BEFREE FDD is associated with a mutation of the BRI2 gene located on chromosome 13. 11895040 2002
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GeneticVariation disease BEFREE Different mutations in the BRI(2) gene cause rare neurodegenerative conditions, termed familial British dementia (FBD) and familial Danish dementia (FDD). 11709554 2002
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 Biomarker disease BEFREE CAA occurs in several familial conditions, including hereditary cerebral hemorrhage with amyloidosis of Icelandic type caused by deposition of mutant cystatin C, hereditary cerebral hemorrhage with amyloidosis Dutch type and familial AD with deposition of either A beta variants or wild-type A beta, the transthyretin-related meningo-vascular amyloidoses, gelsolin as well as familial prion disease-related CAAs and the recently described BRI2 gene-related CAAs in familial British dementia and familial Danish dementia. 12146803 2002
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 Biomarker disease BEFREE CAA occurs in several familial conditions, including hereditary cerebral hemorrhage with amyloidosis of Icelandic type caused by deposition of mutant cystatin C, hereditary cerebral hemorrhage with amyloidosis Dutch type and familial AD with deposition of either A beta variants or wild-type A beta, the transthyretin-related meningo-vascular amyloidoses, gelsolin as well as familial prion disease-related CAAs and the recently described BRI2 gene-related CAAs in familial British dementia and familial Danish dementia. 12146803 2002