L1CAM, L1 cell adhesion molecule, 3897

N. diseases: 289; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease BEFREE A new frameshift mutation in L1CAM producing X-linked hydrocephalus. 31756056 2020
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 Biomarker disease RGD The authors used this method to generate a transgenic rat L1cam knockout model of X-linked hydrocephalus (XLH) with human genetic etiology. 30738385 2019
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 Biomarker disease BEFREE The authors used this method to generate a transgenic rat L1cam knockout model of X-linked hydrocephalus (XLH) with human genetic etiology. 30738385 2019
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation disease BEFREE The hemizygous L1CAM variant p.G452R, previously implicated in patients with L1 syndrome, was identified in patient 5, who presented with antenatal hydrocephalus. 31504653 2019
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease BEFREE The most common genetic cause is L1CAM-related X-linked hydrocephalus and that explains only 5%-10% of all male cases. 29225145 2018
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation disease BEFREE We combined clinical data, in silico effect predictions and functional analysis of four L1CAM variants, p.I37N, p.T38M, p.M172I and p.D202Y, located to the two N-terminal Ig-like domains present in five families with symptoms of L1 syndrome. 26891472 2017
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation disease UNIPROT We combined clinical data, in silico effect predictions and functional analysis of four L1CAM variants, p.I37N, p.T38M, p.M172I and p.D202Y, located to the two N-terminal Ig-like domains present in five families with symptoms of L1 syndrome. 26891472 2017
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease BEFREE A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS). 27207492 2016
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation disease BEFREE Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. 25934484 2016
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation disease BEFREE Three cases with L1 syndrome and two novel mutations in the L1CAM gene. 25948108 2015
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease BEFREE Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene. 25039760 2014
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation disease BEFREE Based on the presentation of the proband and other reported patients with whole gene deletions, we provide further evidence that L1CAM whole gene deletions result in L1 syndrome with a severe phenotype, deletions of PDZD4 do not cause additional manifestations, and that X-linked nephrogenic diabetes insipidus reported in a subset of patients with large L1CAM deletions results from the loss of AVPR2. 24668863 2014
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease UNIPROT Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster. 24155914 2013
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease UNIPROT L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells. 22973895 2013
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation disease UNIPROT Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster. 24155914 2013
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation disease UNIPROT The variable effects observed with the different L1CAM mutants suggest that this function contributes to the marked heterogeneity of symptoms and severity observed in the patients affected by the L1 syndrome. 22973895 2013
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease UNIPROT Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. 22344793 2012
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease BEFREE We report here a family case of X-linked hydrocephalus in which an obligate female carrier has two exonic L1CAM missense mutations in trans substituting amino acids in the first (p.W635C) or second (p.V768I) fibronectin-type III domains. 22222883 2012
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 Biomarker disease BEFREE L1CAM molecule is a cell adhesion molecule in nervous and enteric systems and is responsible for X-linked hydrocephalus (XLH) spectrum, which is a rare condition with severe congenital hydrocephalus, dysgenesis of the corpus callosum, intellectual disability, spasticity, and adducted thumbs. 22354677 2012
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease BEFREE Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. 22344793 2012
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation disease UNIPROT Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. 22344793 2012
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation disease BEFREE The poly-ubiquitination of L1-W635C and its association with the ER chaperone calnexin provide further insights into the molecular mechanisms underlying defective cell surface trafficking of L1CAM in L1 syndrome. 22222883 2012
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 Biomarker disease BEFREE The aim of this study was to evaluate the feasibility of prenatal L1CAM gene testing for X-linked hydrocephalus (XLH). 21961551 2011
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease BEFREE Mutations of the human L1CAM gene have been shown to cause neurodevelopmental disorders such as X-linked hydrocephalus, spastic paraplegia and mental retardation. 20237819 2010
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease UNIPROT L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms. 20621658 2010