DSCAM, DS cell adhesion molecule, 1826

N. diseases: 45; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 AlteredExpression disease BEFREE Considering that chromosomal duplications lead to increased DSCAM expression in trisomy 21, our findings may help uncover novel mechanisms contributing to intellectual disability in Down syndrome. 30745319 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 Biomarker disease BEFREE This work identifies DSCAM as a candidate causative gene in DS that is sufficient to modify synaptic transmission and synaptic plasticity and cause a DS behavioural phenotype. 29196216 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 Biomarker disease BEFREE The aim of this review is to present what is currently known about DSCAM (Down Syndrome Cell Adhesion Molecule) a protein that is directly connected to pathological changes in synaptic plasticity. 30295678 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 Biomarker disease BEFREE We suggest a DS CHD candidate region on 21q22.2 (0.96Mb), being shared by most PT21 cases with CHD and containing three known protein-coding genes (DSCAM, BACE2, PLAC4) and four known non-coding RNAs (DSCAM-AS1, DSCAM-IT1, LINC00323, MIR3197). 28648597 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 AlteredExpression disease BEFREE Increased expression of Down Syndrome Cell Adhesion Molecule (Dscam) is implicated in the pathogenesis of brain disorders such as Down syndrome (DS) and fragile X syndrome (FXS). 25988807 2015
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 Biomarker disease BEFREE Our results reveal the involvement of DSCAM as a HSCR susceptibility locus, both in Down syndrome and HSCR isolated cases. 23671607 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 Biomarker disease BEFREE Recently, it has been suggested that the facial gestalt of DS has been linked to the distal part of the DSCR whereas the proximal region harboring DSCR1/RCAN and DSCAM should be associated with the cardiac abnormalities. 20101688 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 GeneticVariation disease BEFREE We propose that impairment of the NMDA-mediated regulation of DSCAM translation may contribute to the alterations in dendritic morphology and/or synaptic plasticity in Down's syndrome. 20926679 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 GeneticVariation disease BEFREE In contrast, no comparable cardiac defects were detected in embryos of the more limited mouse trisomy model, Dp(16Cbr1-ORF9)1Rhr (Ts1Rhr), indicating that trisomy of the region syntenic to the Down's syndrome critical region, including the candidate genes DSCAM and DYRK1A, is insufficient to yield DS cardiac abnormalities. 20558441 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 Biomarker disease BEFREE The duplication encompasses the gene DYRK1 but not DSCR1 or DSCAM, all of which have previously been implicated in the causation of DS. 17237124 2007
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 AlteredExpression disease BEFREE The present case provides further support to the concept that there exists Down syndrome-associated congenital heart disease gene(s) on chromosome 21q22 and that over-expression of DSCAM may contribute to the cardiac defects of Down syndrome. 15904434 2005
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 Biomarker disease LHGDN The Down syndrome cell adhesion molecule (DSCAM) is a member of the immunoglobulin superfamily that maps to a Down syndrome region of chromosome 21q22.2-22.3. 15169762 2004
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 Biomarker disease BEFREE We now report human molecular and cardiac data that narrow the DS-CHD region, excluding two candidate regions, and propose DSCAM (Down syndrome cell adhesion molecule) as a candidate gene. 11280955 2001
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 Biomarker disease BEFREE Given the homology of DSCAM to cell adhesion molecules involved in development and synaptic plasticity, and its demonstrated role in axon guidance, we propose that DSCAM overexpression contributes not only to the structural defects seen in these regions of the DS brain, but also to the defects of learning and memory seen in adults with DS. 11856873 2001
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 Biomarker disease BEFREE Recently, a novel gene named, DSCAM, has been identified in the DS critical region. 10925149 2000
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 AlteredExpression disease BEFREE The overexpression of DSCAM may also play a role in the mental retardation and the precocious dementia of DS patients, although the mechanism of neuronal dysfunction is undetermined. 11078217 2000
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 Biomarker disease BEFREE Given its location on chromosome 21, its specific expression in the central nervous system and neural crest, and the homologies to molecules involved in neural migration, differentiation, and synaptic function, we propose that DSCAM is involved in neural differentiation and contributes to the central and peripheral nervous system defects in DS. 9426258 1998