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.

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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

SOURCES: OMIM ORPHANET

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


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

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

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

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

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

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

LRRC8A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LRRC8A gene.

More info about this panel

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

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

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


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