LRRC8A gene related symptoms and diseases
All the information presented here about the LRRC8A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LRRC8A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypertelorism | Very Common - Between 80% and 100% cases |
| High palate | Very Common - Between 80% and 100% cases |
| Epicanthus | Very Common - Between 80% and 100% cases |
| Agammaglobulinemia | Very Common - Between 80% and 100% cases |
| Osteomyelitis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with LRRC8A gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Recurrent pneumonia
- Recurrent bacterial infections
- Conjunctivitis
- Recurrent skin infections
- Encephalitis
- Chronic otitis media
- Recurrent sinusitis
- Cellulitis
And 29 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LRRC8A gene
Here you will find a list of rare diseases related to the LRRC8A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL AGAMMAGLOBULINEMIA
Alternate names
AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect, agammaglobulinemia, non-bruton type
Description
Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.
Most common symptoms of AUTOSOMAL AGAMMAGLOBULINEMIA
- Hypertelorism
- Failure to thrive
- High palate
- Epicanthus
- Fever
More info about AUTOSOMAL AGAMMAGLOBULINEMIA
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5
Alternate names
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5 Is also known as agammaglobulinemia, autosomal dominant, due to lrrc8a defect
Most common symptoms of AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5
- Hypertelorism
- Low-set ears
- High palate
- Epicanthus
- Agammaglobulinemia
More info about AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5
SOURCES: OMIM
Search interest in LRRC8A
Potential gene panels for LRRC8A gene
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG VAV1 AICDA BLNK CD19 CD79A
More info about this panel United States.
Agammaglobulinemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Agammaglobulinemia Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM PIK3R1
More info about this panel United States.
Agammaglobulinemia type 5, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LRRC8A gene.
More info about this panel Germany.
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.
Agammaglobulinemia panel Panel
Germany.
By Centogene AG - the Rare Disease Company Agammaglobulinemia panel that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM IGLL1 PIK3R1
More info about this panel Germany.
Antibody deficiencies Panel Panel
Germany.
By CeGaT GmbH Antibody deficiencies Panel that also includes the following genes: BTK TCF3 TCF4 CD40 TNFSF12 CD40LG UNG AICDA BLNK RTEL1
More info about this panel Germany.
LRRC8A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LRRC8A gene.
More info about this panel United States.
Agammaglobulinemia NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL Agammaglobulinemia NGS PANEL that also includes the following genes: BTK TCF3 BLNK CD79A CD79B LRRC8A IGHM IGLL1 PIK3R1
More info about this panel Spain.
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel
Spain.
By Reference Laboratory Genetics Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: CXCL12 SH2D1A BTK STAT1 STAT3 TGFB1 TNFRSF4 CD40 CD40LG AICDA
More info about this panel Spain.
Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM IGLL1 PIK3R1
More info about this panel Spain.
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