GATA2 gene related symptoms and diseases

All the information presented here about the GATA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, 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 GATA2 gene

Symptoms // Phenotype	% Cases
Leukemia	Very Common - Between 80% and 100% cases
Anemia	Very Common - Between 80% and 100% cases
Myelodysplasia	Very Common - Between 80% and 100% cases
Myeloid leukemia	Very Common - Between 80% and 100% cases
Acute myeloid leukemia	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GATA2 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Pancytopenia
Acute monocytic leukemia
Recurrent infections
Leukopenia
Neoplasm
Bruising susceptibility
Fatigue
Fever

And 95 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to GATA2 gene

Here you will find a list of rare diseases related to the GATA2. 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

LEUKEMIA, ACUTE MYELOID; AML

Alternate names

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Most common symptoms of LEUKEMIA, ACUTE MYELOID; AML

Seizures
Neoplasm
Pain
Anemia
Fever

More info about LEUKEMIA, ACUTE MYELOID; AML

SOURCES: OMIM ORPHANET

MYELODYSPLASTIC SYNDROME; MDS

Alternate names

MYELODYSPLASTIC SYNDROME; MDS Is also known as myelodysplastic syndrome, susceptibility to, included

Description

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML ). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011).

Most common symptoms of MYELODYSPLASTIC SYNDROME; MDS

Anemia
Leukemia
Myelodysplasia
Myeloid leukemia
Acute myeloid leukemia

More info about MYELODYSPLASTIC SYNDROME; MDS

SOURCES: OMIM ORPHANET

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Alternate names

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency, dcml, dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency, monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia, monoc

Description

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

Most common symptoms of MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Hearing impairment
Sensorineural hearing impairment
Anemia
Hypertension
Immunodeficiency

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

SOURCES: OMIM ORPHANET

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Alternate names

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Description

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

Most common symptoms of DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Hearing impairment
Neoplasm
Sensorineural hearing impairment
Anemia
Epicanthus

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

SOURCES: OMIM ORPHANET

INHERITED ACUTE MYELOID LEUKEMIA

Alternate names

INHERITED ACUTE MYELOID LEUKEMIA Is also known as pure familial aml, familial aml, pure familial acute myeloid leukemia, inherited aml

Description

Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.

More info about INHERITED ACUTE MYELOID LEUKEMIA

SOURCES: ORPHANET

Search interest in GATA2

Potential gene panels for GATA2 gene

Hereditary Leukemia/Lymphoma Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Hereditary Leukemia/Lymphoma Panel that also includes the following genes: RUNX1 BRCA2 TP53 CBL CEBPA SBDS BRIP1 PALB2 GATA2 ATM

GATA2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to GATA2 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to GATA2 gene

JUVENILE MYELOMONOCYTIC LEUKEMIA

Alternate names

Description

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

LEUKEMIA, ACUTE MYELOID; AML

Alternate names

Most common symptoms of LEUKEMIA, ACUTE MYELOID; AML

MYELODYSPLASTIC SYNDROME; MDS

Alternate names

Description

Most common symptoms of MYELODYSPLASTIC SYNDROME; MDS

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Alternate names

Description

Most common symptoms of MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Alternate names

Description

Most common symptoms of DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

INHERITED ACUTE MYELOID LEUKEMIA

Alternate names

Description

Search interest in GATA2

Potential gene panels for GATA2 gene

Hereditary Leukemia/Lymphoma Panel Panel

Comprehensive Hereditary Cancer Panel Panel

NGS Vascular Disorders Panel Panel

MyeloidDx by NGS Panel

MyeloidDx by NGS Panel

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

GATA2 Sequencing Panel

Hemophagocytic Lymphohistiocytosis 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

GATA2 Deleton/duplication analysis Panel

Inherited Bone Marrow Failure Sequencing Panel Panel

Thrombocytopenia Sequencing Panel Panel

Comprehensive Hereditary Cancer Panel Panel

Hereditary Leukemia and Breast Cancer Panel Panel

Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel

Thrombocytopenia Deletion/Duplication Panel Panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

GATA2 gene screen test Panel

Lymphedema NGS Multi-Gene Panel (36 Genes) Panel

GATA2. Complete sequencing Panel

GATA2 sequencing Panel

CHOP Comprehensive Hereditary Cancer Panel Panel

Neonatal Respiratory Distress Del/Dup Panel Panel

Neonatal Respiratory Distress Seq + Del/ Dup Panel Panel

Neonatal Respiratory Distress Seq Analysis Panel

Humoral dysfunction Del/Dup Panel Panel

Humoral dysfunction Seq Analysis Panel

Comprehensive Pulmonary-Vascular Seq Analysis Panel

Comprehensive Pulmonary-Vascular Del/Dup Panel Panel

Humoral dysfunction Seq + Del/Dup Panel Panel

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel

GATA2 deficiency (sequence analysis of GATA2 gene) Panel

Hereditary neutropenia (NGS panel for 22 genes) Panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Immunodeficiency 21 (sequence analysis of GATA2 gene) Panel

Immunodeficiency 21 (sequence analysis of GATA2 gene) Panel

Cancer Sequencing Panel with CNV Detection Panel

Lymphedema Sequencing Panel with CNV Detection Panel

Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection Panel

GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML) via GATA2 Gene Sequencing with CNV Detection Panel

Severe Congenital Neutropenia Sequencing Panel with CNV Detection Panel

Vascular malformations Deletion / Duplication panel Panel

Vascular malformations NGS panel Panel

Vascular malformations Comprehensive panel Panel

Hereditary Cancer Syndromes - panels Panel

GATA2 gene Panel

Myeloid Tumor Panel Panel

Immunodeficiency type 21 Panel

Emberger syndrome Panel