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

SOURCES: OMIM ORPHANET MESH

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


Potential gene panels for IRF2BP2 gene

Primary Immunodeficiency Panel Panel

Finland.

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 panel
Finland.

COMMON VARIABLE IMMUNODEFICIENCY NGS PANEL Panel

Spain.

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

More info about this panel
Spain.

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