CSF1R, colony stimulating factor 1 receptor, 1436

N. diseases: 356; N. variants: 60
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 Biomarker disease CTD_human
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE Our goal is to describe three unrelated Italian patients affected by HDLS and carrying new CSF1R mutations, thus expanding the mutational spectrum and phenotypic presentation. 24532199 2014
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation disease CLINVAR A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids. 25012610 2014
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation disease CLINVAR A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. 24034409 2013
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE We describe the clinical and neuropathological features in three siblings with HDLS and the CSF1R p.Arg782His (c.2345G > A) pathogenic mutation. 26141825 2015
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 Biomarker disease BEFREE Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. 27749956 2016
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE Recently, mutations in the colony-stimulating factor-1 receptor (CSF1R) gene have been shown to be associated with HDLS. 24428556 2014
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function. 24145216 2013
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is caused by autosomal-dominantly inherited mutations in the colony stimulating factor 1 receptor (CSF1R) gene, and is clinically characterized by a progressive cognitive and motor decline leading to death within several years. 24198292 2013
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disease caused by mutations within the colony stimulating factor 1 receptor (CSF1R) gene. 25239393 2014
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE Recently, Rademakers and colleagues identified mutations in the CSF1R gene as the cause of hereditary diffuse leukoencephalopathy with spheroids (HDLS), offering the possibility for an in-life diagnosis. 23649896 2013
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE A Novel Splicing Mutation in the CSF1R Gene in a Family With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids. 31191609 2019
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE We identified CSF1R mutations in both POLD families: in family 5901, we found c.2297T>C (p.M766T), previously reported by us in HDLS family CA1, and in family FTD368, we identified c.2345G>A (p.R782H), recently reported in a biopsy-proven HDLS case. 23408870 2013
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation disease CLINVAR Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. 25311247 2015
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE However, recent identification of mutations in the tyrosine kinase domain of the colony stimulating factor 1 receptor (CSF1R) gene, which regulates mononuclear cell lineages including microglia, have provided genetic and mechanistic evidence that POLD and HDLS should be regarded as a single clinicopathologic entity. 29122458 2018
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE We report here a newly identified family with HDLS harboring a mutation in the CSF1R gene. 27423618 2016
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation. 28025469 2017
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation disease CLINVAR Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 24336230 2014
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE Functional prediction of the mutant CSF1R as well as cross-species conservation of the affected amino acids supports the notion that these variants are pathogenic for HDLS. 23038421 2012
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 AlteredExpression disease BEFREE Our findings suggest that expression of wild-type CSF1R in some cells, whether achieved by mosaicism or chimerism, may confer benefit in hereditary diffuse leukoencephalopathy with axonal spheroids and suggest that haematopoietic stem cell transplantation might have a therapeutic role for this disorder. 27190017 2016
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult-onset autosomal dominant leukoencephalopathy resulting from mutations affecting the tyrosine kinase domain of the colony stimulating factor receptor 1 protein (encoded by CSF1R). 30968732 2019
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. 30136118 2018
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE <i>CSF1R</i>-related leukoencephalopathy, also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS), is a rare white-matter encephalopathy characterized by motor and neuropsychiatric symptoms due to colony-stimulating factor 1 receptor (<i>CSF1R</i>) gene mutation. 31827782 2019
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 GeneticVariation disease BEFREE We report familial cases of a novel CSF1R mutation causing HDLS similar to hydrocephalus. 31093799 2019