RAC2 gene related symptoms and diseases

All the information presented here about the RAC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to RAC2 gene

Symptoms // Phenotype	% Cases
Generalized hypotonia	Uncommon - Between 30% and 50% cases
Refractory anemia	Uncommon - Between 30% and 50% cases
Urachal cyst	Uncommon - Between 30% and 50% cases
Rectal abscess	Uncommon - Between 30% and 50% cases
Neutrophilia	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with RAC2 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Poor wound healing
Leukocytosis
Immunodeficiency
Chronic myelomonocytic leukemia
Acute myelomonocytic leukemia
Juvenile myelomonocytic leukemia
Monocytosis
Myeloproliferative disorder

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RAC2 gene

Here you will find a list of rare diseases related to the RAC2. 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). 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.

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

Generalized hypotonia
Abnormal facial shape
Anemia
Anteverted nares
Splenomegaly

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

SOURCES: ORPHANET MESH OMIM

NEUTROPHIL IMMUNODEFICIENCY SYNDROME

Description

Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.

Most common symptoms of NEUTROPHIL IMMUNODEFICIENCY SYNDROME

Immunodeficiency
Leukocytosis
Poor wound healing
Neutrophilia
Rectal abscess

More info about NEUTROPHIL IMMUNODEFICIENCY SYNDROME

SOURCES: OMIM ORPHANET MESH

Search interest in RAC2

Potential gene panels for RAC2 gene

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24

RAC2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to RAC2 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to RAC2 gene

JUVENILE MYELOMONOCYTIC LEUKEMIA

Alternate names

Description

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

NEUTROPHIL IMMUNODEFICIENCY SYNDROME

Description

Most common symptoms of NEUTROPHIL IMMUNODEFICIENCY SYNDROME

Search interest in RAC2

Potential gene panels for RAC2 gene

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel

Inherited Neutropenia panel by next-generation sequencing (NGS) Panel

Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel

Inherited Neutropenia Deletion/Duplication Panel Panel

RAC2 Deletion/duplication analysis Panel

RAC2 Sequencing Panel

Hereditary neutropenia (NGS panel for 22 genes) Panel

Severe Congenital Neutropenia Sequencing Panel with CNV Detection Panel

Comprehensive SCID panel Panel

Neutrophil immunodeficiency syndrome Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

B-negative SCID panel Panel

Defects of phagocytosis Panel Panel

Invitae Common Variable Immunodeficiency Panel Panel

Invitae Monogenic Autoimmunity Panel Panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel

Invitae Primary Immunodeficiency Panel Panel

Invitae Combined Immunodeficiency (CID) Panel Panel

Neutropenia Panel

Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel Panel

Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel Panel

RAC2 Panel

Primary Immunodeficiency Panel Panel

Comprehensive Hematology Panel Panel

Bone Marrow Failure Syndrome Panel Panel

Congenital Neutropenia Panel Panel

NEUTROPENIA CONGENITAL: NGS PANEL Panel

Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel

Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes Panel

Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes Panel

Tempus xO assay Panel