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.
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
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
Search interest in IL12RB1
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 United States.
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 United States.
Immunodeficiency 30 (sequence analysis of IL12RB1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IL12RB1 gene.
More info about this panel Portugal.
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 United States.
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 Germany.
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 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.
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 Germany.
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 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.
IL12RB1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IL12RB1 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.
Immunodeficiency Type 30 , Sequencing IL12RB1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the IL12RB1 gene.
More info about this panel Spain.
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 United States.
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