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.
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
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
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
Search interest in ITGB2
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 United States.
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 Spain.
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 Portugal.
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 United States.
Leukocyte adhesion deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ITGB2 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
Leukocyte adhesion deficiency type 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ITGB2 gene.
More info about this panel Austria.
Leukocyte adhesion deficiency type 1 Panel
Slovakia.
By MedGene
This panel specifically test the ITGB2 gene.
More info about this panel Slovakia.
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 United States.
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 United States.
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 United States.
ITGB2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ITGB2 gene.
More info about this panel United States.
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.
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 Finland.
Leukocyte adhesion deficiency type I Panel
Spain.
By Bioarray
This panel specifically test the ITGB2 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SLC6A5 FNDC3B PSTPIP1 EPB41 IL17F CBS FOXP3