IL12B gene related symptoms and diseases
All the information presented here about the IL12B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IL12B gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Uncommon - Between 30% and 50% cases |
Abnormal pattern of respiration | Uncommon - Between 30% and 50% cases |
Psoriasiform dermatitis | Uncommon - Between 30% and 50% cases |
Abnormal heart valve morphology | Uncommon - Between 30% and 50% cases |
Hemoptysis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with IL12B gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Gangrene
- Cerebral ischemia
- Reduced consciousness/confusion
- Abnormal aortic valve morphology
- Inflammatory abnormality of the eye
- Arterial stenosis
- Vasculitis
- Ascending tubular aorta aneurysm
And 30 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IL12B gene
Here you will find a list of rare diseases related to the IL12B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TAKAYASU ARTERITIS
Alternate names
TAKAYASU ARTERITIS Is also known as young female arteritis, aortic arch syndrome, pulseless disease
Description
Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.
Most common symptoms of TAKAYASU ARTERITIS
- Seizures
- Muscle weakness
- Anemia
- Hypertension
- Fever
More info about TAKAYASU ARTERITIS
MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY
Alternate names
MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency, msmd due to complete interleukin 12b deficiency, msmd due to complete il12b deficiency, il12b deficiency
Description
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.
Most common symptoms of MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY
- Immunodeficiency
- Lymphadenopathy
More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY
Search interest in IL12B
Potential gene panels for IL12B gene
IL12B Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the IL12B gene.
More info about this panelFamilial Atypical Mycobacteriosis (sequence analysis of IL12B gene) Panel
By CGC Genetics
This panel specifically test the IL12B gene.
More info about this panelPsoriasis susceptibility type 11 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the IL12B gene.
More info about this panelDefects of phagocytosis Panel Panel
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 panelInvitae Mendelian Susceptibility to Mycobacterial Disease Panel Panel
By Invitae Invitae Mendelian Susceptibility to Mycobacterial Disease Panel that also includes the following genes: STAT1 STAT2 ACP5 TYK2 SAMHD1 IRAK4 ADAR CYBB ISG15 GATA2
More info about this panelInvitae Primary Immunodeficiency Panel Panel
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 panelIL12B Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IL12B gene.
More info about this panelPrimary 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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FDXR PCK2 FUZ ATXN2 SCN2A ARSE HAMP