IGHM gene related symptoms and diseases
All the information presented here about the IGHM 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 IGHM gene
Symptoms // Phenotype | % Cases |
---|---|
Hypertelorism | Very Common - Between 80% and 100% cases |
Chronic otitis media | Very Common - Between 80% and 100% cases |
Sinusitis | Very Common - Between 80% and 100% cases |
Meningitis | Very Common - Between 80% and 100% cases |
Recurrent pneumonia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with IGHM gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent bacterial infections
- Conjunctivitis
- Recurrent skin infections
- Encephalitis
- Osteomyelitis
- Chronic diarrhea
- Cellulitis
- Bronchitis
And 28 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IGHM gene
Here you will find a list of rare diseases related to the IGHM. 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
Search interest in IGHM
Potential gene panels for IGHM gene
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
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 panelAgammaglobulinemia Sequencing Panel with CNV Detection Panel
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 panelAgammaglobulinemia type 1, autosomal recessive Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the IGHM gene.
More info about this panelAgammaglobulinemia panel Panel
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 panelAntibody deficiencies Panel Panel
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 panelAgammaglobulinemia, non-Bruton type Panel
By Department of Clinical Immunology Odense University Hospital
This panel specifically test the IGHM gene.
More info about this panelAgammaglobulinemia NGS PANEL Panel
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 panelCommon Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel
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 panelAgammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes Panel
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
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