IRF2BP2 gene related symptoms and diseases
All the information presented here about the IRF2BP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IRF2BP2 gene
Symptoms // Phenotype | % Cases |
---|---|
Leukemia | Uncommon - Between 30% and 50% cases |
Acute promyelocytic leukemia | Uncommon - Between 30% and 50% cases |
Abnormal granulocytopoietic cell morphology | Uncommon - Between 30% and 50% cases |
Immunodeficiency | Uncommon - Between 30% and 50% cases |
Diabetes mellitus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with IRF2BP2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Decreased antibody level in blood
- Psoriasiform dermatitis
- Colitis
- Recurrent sinopulmonary infections
Rare diseases associated to IRF2BP2 gene
Here you will find a list of rare diseases related to the IRF2BP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACUTE PROMYELOCYTIC LEUKEMIA
Alternate names
ACUTE PROMYELOCYTIC LEUKEMIA Is also known as acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloblastic leukemia 3, apml, aml m3, aml with t(15;17)(q22;q12);(pml/raralpha) and variants, leukemia, acute promyelocytic
Description
Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.
Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA
- Leukemia
- Acute promyelocytic leukemia
- Abnormal granulocytopoietic cell morphology
More info about ACUTE PROMYELOCYTIC LEUKEMIA
IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14
Most common symptoms of IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14
- Immunodeficiency
- Diabetes mellitus
- Decreased antibody level in blood
- Psoriasiform dermatitis
- Colitis
More info about IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14
SOURCES: OMIM
Search interest in IRF2BP2
Potential gene panels for IRF2BP2 gene
Primary Immunodeficiency Panel Panel
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panelCOMMON VARIABLE IMMUNODEFICIENCY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL COMMON VARIABLE IMMUNODEFICIENCY NGS PANEL that also includes the following genes: IKZF1 CD19 CD81 LRBA TNFRSF13C TNFRSF13B IRF2BP2 CR2 ICOS IL21
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