2012年8月30日 · The diagnosis of CSF1R-related disorder is established in a proband with suggestive findings and a heterozygous CSF1R pathogenic variant or biallelic CSF1R pathogenic variants identified by molecular genetic testing.

2024年12月24日 · CSF1R (Colony Stimulating Factor 1 Receptor) is a Protein Coding gene. Diseases associated with CSF1R include Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 and Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis. Among its related pathways are GPCR Pathway and ERK Signaling.

2023年1月5日 · Colony-Stimulating Factor-1 Receptor (CSF1R) is a receptor tyrosine kinase that controls the differentiation and maintenance of most tissue-resident macrophages and bone-resorbing osteoclasts. Mutations of CSF1R have been implicated in neurodegeneration, skeletal anomalies, and cancers.

The CSF1R gene provides instructions for making a protein called the colony stimulating factor 1 receptor (CSF-1 receptor). Learn about this gene and related health conditions.

CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology. A recurrent pathogenic splicing mutation of Colony-stimulating factor 1 receptor is responsible for a Chinese family with diffuse leukoencephalopathy.

2024年7月16日 · CSF1R-related disorder (CSF1R-RD) is a devastating autosomal dominant inherited white matter disorder characterized by a variable combination of cognitive impairment, neuropsychiatric changes, and motor symptoms including pyramidal and extrapyramidal signs, gait ataxia and seizures.

2025年2月8日 · Clinical resource with information about CSF1R, Brain abnormalities, neurodegeneration, and dysosteosclerosis, Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy, diffuse hereditary, with spheroids 1, and available tests.

CSF1R-related disorder (CSF1R-RD) is a devastating autosomal dominant inherited white matter disorder characterized by a variable combination of cognitive impairment, neuropsychiatric changes, and motor symptoms including pyramidal and …

The 14 CSF1R mutations identified in HDLS families are all located in the intracellular tyrosine-kinase domain of CSF1R encoded by exons 12-22. The mutations include 10 missense mutations and one single-codon deletion, all affecting residues highly conserved across species and within members of the CSF1/PDGF receptor family of tyrosine-protein ...

2 天之前 · Colony-stimulating factor 1 receptor (CSF1R) -related disorder (CSF1R-RD) is a rare and rapidly progressive leukoencephalopathy characterized by cognitive, motor, and neuropsychiatric symptoms [].It accounts for 10%–25% of adult-onset leukodystrophy [].The CSF1R-RD includes cases of Hereditary diffuse leukoencephalopathy with spheroids (HDLS) …