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.
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.
JUVENILE MYELOMONOCYTIC LEUKEMIA
Alternate names
JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia, jmml, leukemia, juvenile myelomonocytic
Description
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).
Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA
- Generalized hypotonia
- Abnormal facial shape
- Anemia
- Anteverted nares
- Splenomegaly
More info about JUVENILE MYELOMONOCYTIC LEUKEMIA
Search interest in CSF2
Potential gene panels for CSF2 gene
CSF2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CSF2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NDUFV1 DLX5 PIGT SLC45A2 KLKB1 RECQL4 KDR