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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM


Potential gene panels for IL12B gene

IL12B Sequencing Panel

United States.

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 panel

Familial Atypical Mycobacteriosis (sequence analysis of IL12B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IL12B gene.

More info about this panel

Psoriasis susceptibility type 11 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IL12B gene.

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

Invitae Mendelian Susceptibility to Mycobacterial Disease Panel Panel

United States.

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 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

IL12B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IL12B 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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PTPN2 MTPAP

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more