Brain abnormalities, neurodegeneration, and dysosteosclerosis: genes and variants
Brain abnormalities, neurodegeneration, and dysosteosclerosis is linked to 1 analyzed protein (CSF1R). 2 DNA variants are known to cause it; 15 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Brain abnormalities, neurodegeneration, and dysosteosclerosis
CSF1R: Macrophage colony-stimulating factor 1 receptor
Signals from CSF1 and IL-34 through this pathway are required for development, survival, and function of macrophages and microglia. Pathogenic variants can cause adult-onset leukoencephalopathy with cognitive, psychiatric, and motor deterioration.
2 disease-causing and 15 uncertain variants in CSF1R are linked to Brain abnormalities, neurodegeneration, and dysosteosclerosis.
Known disease-causing variants in Brain abnormalities, neurodegeneration, and dysosteosclerosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CSF1R R782H | 782 | Protein kinase | Disease-causing (★★) |
| CSF1R F849I | 849 | Protein kinase | Disease-causing (★) |
Same protein, different disease
- Leukoencephalopathy, diffuse hereditary, with spheroids 1 is also caused by CSF1R variants; they fall mostly in different places as the Brain abnormalities, neurodegeneration, and dysosteosclerosis variants (13 disease-causing).
- Hereditary diffuse leukoencephalopathy with spheroids is also caused by CSF1R variants; they fall mostly in different places as the Brain abnormalities, neurodegeneration, and dysosteosclerosis variants (9 disease-causing).
Diseases related to Brain abnormalities, neurodegeneration, and dysosteosclerosis
- Alzheimer disease, also linked to CSF1R
- Gastrointestinal stromal tumor, also linked to CSF1R
- Leukoencephalopathy, diffuse hereditary, with spheroids 1, also linked to CSF1R
- Hereditary diffuse leukoencephalopathy with spheroids, also linked to CSF1R
- Renal cell carcinoma, also linked to CSF1R
Frequently asked questions
Which genes are linked to Brain abnormalities, neurodegeneration, and dysosteosclerosis?
In CATVariant, Brain abnormalities, neurodegeneration, and dysosteosclerosis is linked to 1 analyzed protein: CSF1R (Macrophage colony-stimulating factor 1 receptor).
How many genetic variants are linked to Brain abnormalities, neurodegeneration, and dysosteosclerosis?
26 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 15 are of uncertain significance or have conflicting reports.
Which uncertain variants in Brain abnormalities, neurodegeneration, and dysosteosclerosis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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