Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 GeneticVariation phenotype BEFREE Known defects of folate transport are deficiency of the proton coupled folate transporter, associated with systemic as well as cerebral folate deficiency, and deficiency of the folate receptor alpha, leading to an isolated cerebral folate deficiency associated with intractable seizures, developmental delay and/or regression, progressive ataxia and choreoathetoid movement disorders. 30916789 2019
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype BEFREE Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folate and attributed to different causes such as autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus, FOLR1 gene mutations or mitochondrial disorders. 29661558 2018
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype CLINGEN Folate receptor 1 is necessary for neural plate cell apical constriction during Xenopus neural tube formation. 28255006 2017
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 GeneticVariation phenotype BEFREE A diagnosis of cerebral folate deficiency was confirmed by a homozygous c.466T>G (p.W156G) mutation in FOLR1, coupled with extremely low cerebrospinal fluid levels of 5-methyltetrahydrofolate. 27743887 2017
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype BEFREE Folate receptor alpha (FRα) autoantibodies have been associated with fetal abnormalities and cerebral folate deficiency-related developmental disorders. 27646260 2017
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype CLINGEN We present the cases of two sisters with cerebral folate transport deficiency caused by mutation in the folate receptor 1 (FOLR1) gene (MIM *136430). 27328863 2016
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype CLINGEN (1,3,5,6) We present the late diagnosis of adult siblings with cerebral folate deficiency due to FOLR1 mutations and their subsequent treatment. 27066576 2016
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype GENOMICS_ENGLAND We present the cases of two sisters with cerebral folate transport deficiency caused by mutation in the folate receptor 1 (FOLR1) gene (MIM *136430). 27328863 2016
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype GENOMICS_ENGLAND The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders. 27830117 2016
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 GeneticVariation phenotype BEFREE We present the cases of two sisters with cerebral folate transport deficiency caused by mutation in the folate receptor 1 (FOLR1) gene (MIM *136430). 27328863 2016
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype GENOMICS_ENGLAND Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. 25046240 2015
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype CLINGEN Delayed myelination and cerebellar atrophy on cranial MRI were important clues to the diagnosis of cerebral folate transport deficiency, which was confirmed by homozygosity for the known nonsense mutation p.R204X in the FOLR1 gene. 24556562 2014
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype CLINGEN Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures. 25274592 2014
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype CLINGEN Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 GeneticVariation phenotype BEFREE Thus, our studies suggest that different clinical severities do not necessarily correlate with residual function of folate receptor alpha mutants and indicate that additional factors contribute to the clinical phenotype in cerebral folate transport deficiency. 22586289 2012
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype CLINGEN Thus, our studies suggest that different clinical severities do not necessarily correlate with residual function of folate receptor alpha mutants and indicate that additional factors contribute to the clinical phenotype in cerebral folate transport deficiency. 22586289 2012
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype BEFREE While the FRα defect is a disorder of brain-specific folate transport accompanied with cerebral folate deficiency (CFD) causing progressive neurological symptoms, LAMM syndrome is a solely malformative condition, with normal physical growth and cognitive development. 21752681 2011
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype CLINGEN Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). 21752681 2011
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 GeneticVariation phenotype BEFREE We report a case of cerebral folate transport deficiency due to a novel homozygous mutation in the FOLR1 gene, in an effort to clarify phenotype-genotype correlation in this newly identified neurometabolic disorder. 20857335 2010
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype GENOMICS_ENGLAND We report a case of cerebral folate transport deficiency due to a novel homozygous mutation in the FOLR1 gene, in an effort to clarify phenotype-genotype correlation in this newly identified neurometabolic disorder. 20857335 2010
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype CLINGEN We report a case of cerebral folate transport deficiency due to a novel homozygous mutation in the FOLR1 gene, in an effort to clarify phenotype-genotype correlation in this newly identified neurometabolic disorder. 20857335 2010
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 CausalMutation phenotype CLINVAR Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. 19732866 2009
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype GENOMICS_ENGLAND Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. 19732866 2009
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 CausalMutation phenotype CLINVAR Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment. 20018644 2009