IL12RB1 gene related symptoms and diseases

All the information presented here about the IL12RB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IL12RB1 gene

Symptoms // Phenotype % Cases
Diarrhea Very Common - Between 80% and 100% cases
Hypertension Uncommon - Between 30% and 50% cases
Fat malabsorption Uncommon - Between 30% and 50% cases
Abnormality of lipid metabolism Uncommon - Between 30% and 50% cases
Hepatocellular carcinoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with IL12RB1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Xerostomia
  • Antinuclear antibody positivity
  • Excessive daytime somnolence
  • Allergy
  • Conjugated hyperbilirubinemia
  • Cholangitis
  • Biliary cirrhosis
  • Cholestatic liver disease

And 40 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to IL12RB1 gene

Here you will find a list of rare diseases related to the IL12RB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PRIMARY BILIARY CHOLANGITIS


Alternate names

PRIMARY BILIARY CHOLANGITIS Is also known as pbc, hanot syndrome, primary biliary cirrhosis

Description

Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.

Most common symptoms of PRIMARY BILIARY CHOLANGITIS

  • Hypertension
  • Fatigue
  • Diarrhea
  • Encephalopathy
  • Osteoporosis


More info about PRIMARY BILIARY CHOLANGITIS

SOURCES: ORPHANET OMIM

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY


Alternate names

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency, il12rb1 deficiency, msmd due to complete il12rb1 deficiency, msmd due to complete interleukin 12 receptor beta 1 deficiency

Description

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) 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 IL12RB1 DEFICIENCY

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent mycobacterial infections


More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for IL12RB1 gene

IL12RB1 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 IL12RB1 gene.

More info about this panel

IL12RB1 Deletion/duplication analysis 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 IL12RB1 gene.

More info about this panel

Immunodeficiency 30 (sequence analysis of IL12RB1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IL12RB1 gene.

More info about this panel

IL-12 Receptor B1 Deficiency via IL12RB1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the IL12RB1 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

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

Combined immunodeficiencies Panel Panel

Germany.

By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40

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

IL12RB1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IL12RB1 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

Immunodeficiency Type 30 , Sequencing IL12RB1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the IL12RB1 gene.

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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