CSF2 gene related symptoms and diseases

All the information presented here about the CSF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CSF2 gene

Symptoms // Phenotype % Cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Acute myeloid leukemia Very Common - Between 80% and 100% cases
Acute myelomonocytic leukemia Very Common - Between 80% and 100% cases
Juvenile myelomonocytic leukemia Very Common - Between 80% and 100% cases
Monocytosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CSF2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Refractory anemia
  • Myeloproliferative disorder
  • Acute monocytic leukemia
  • Facial hypotonia
  • Myeloid leukemia
  • Abnormal facial shape
  • Neurofibromas
  • Myelodysplasia

And 6 more phenotypes, you can get all of them using our tools for rare diseases.


Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to CSF2 gene

Here you will find a list of rare diseases related to the CSF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia, jmml, leukemia, juvenile myelomonocytic


Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.


  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly



Potential gene panels for CSF2 gene

CSF2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CSF2 gene.

More info about this panel

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SIPA1L3 CCND3 INS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian

Learn more