ZRSR2 gene related symptoms and diseases
All the information presented here about the ZRSR2 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 ZRSR2 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 ZRSR2 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 ZRSR2 gene
Here you will find a list of rare diseases related to the ZRSR2. 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 ZRSR2
Potential gene panels for ZRSR2 gene
MyeloidDx by NGS Panel
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panelMyeloidDx by NGS Panel
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panelMyeloid Tumor Panel Panel
By Centogene AG - the Rare Disease Company Myeloid Tumor Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panelFocus::Myeloid™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panelFocus::MDS™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MDS™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TP53 U2AF1 KDM6A WT1 CBL
More info about this panelFocus::AML™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::AML™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TP53 U2AF1 KDM6A WT1 CALR
More info about this panelHematopoietic Disorders Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1
More info about this panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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