ITGB2 gene related symptoms and diseases

All the information presented here about the ITGB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ITGB2 gene

Symptoms // Phenotype % Cases
Arthritis Uncommon - Between 30% and 50% cases
Confusion Uncommon - Between 30% and 50% cases
Rheumatoid arthritis Uncommon - Between 30% and 50% cases
Seizures Rare - less than 30% cases
Thrombophlebitis Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with ITGB2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Erythema nodosum
  • Immunologic hypersensitivity
  • Chorioretinitis
  • Optic neuritis
  • Posterior uveitis
  • Anterior uveitis
  • Oral ulcer
  • Iridocyclitis

And 123 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ITGB2 gene

Here you will find a list of rare diseases related to the ITGB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BEHÇET DISEASE


Alternate names

BEHÇET DISEASE Is also known as bd, behcet disease

Description

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

Most common symptoms of BEHÇET DISEASE

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


More info about BEHÇET DISEASE

SOURCES: OMIM ORPHANET MESH

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

LEUKOCYTE ADHESION DEFICIENCY TYPE I


Alternate names

LEUKOCYTE ADHESION DEFICIENCY TYPE I Is also known as lad-i

Description

Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.


More info about LEUKOCYTE ADHESION DEFICIENCY TYPE I

SOURCES: ORPHANET

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD


Alternate names

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1, lymphocyte function-associated antigen 1 immunodeficiency, lfa1 immunodeficiency

Description

Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

Most common symptoms of LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

SOURCES: OMIM


Potential gene panels for ITGB2 gene

ITGB2 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ITGB2 gene.

More info about this panel

ITGB2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ITGB2 gene.

More info about this panel

Leukocyte adhesion deficiency (sequence analysis of ITGB2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ITGB2 gene.

More info about this panel

CD18 gene Panel

United States.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute

This panel specifically test the ITGB2 gene.

More info about this panel

Leukocyte adhesion deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ITGB2 gene.

More info about this panel

Complement deficiencies Panel Panel

Germany.

By CeGaT GmbH Complement deficiencies Panel that also includes the following genes: CFB THBD SERPING1 C1QA C1QB C1QC C1R C1S C2 C3

More info about this panel

Defects of phagocytosis Panel Panel

Germany.

By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3

More info about this panel

Leukocyte adhesion deficiency type 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ITGB2 gene.

More info about this panel

Leukocyte adhesion deficiency type 1 Panel

Slovakia.

By MedGene

This panel specifically test the ITGB2 gene.

More info about this panel

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

United States.

By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Phagocyte Defects Panel Panel

United States.

By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA

More info about this panel

ITGB2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ITGB2 gene.

More info about this panel

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

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel

Leukocyte adhesion deficiency type I Panel

Spain.

By Bioarray

This panel specifically test the ITGB2 gene.

More info about this panel

LEUKOCYTE ADHESION DEFICIENCY TYPE I Panel

Spain.

By Laboratorio de Genetica Clinica SL LEUKOCYTE ADHESION DEFICIENCY TYPE I that also includes the following genes: SLC35C1 FERMT3 ITGB2

More info about this panel

Leukocyte Adhesion Deficiency Type 1, Sequencing ITGB2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ITGB2 gene.

More info about this panel


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