IGLL1 gene related symptoms and diseases
All the information presented here about the IGLL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IGLL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Arthritis | Very Common - Between 80% and 100% cases |
| Meningitis | Very Common - Between 80% and 100% cases |
| Recurrent pneumonia | Very Common - Between 80% and 100% cases |
| Decreased antibody level in blood | Very Common - Between 80% and 100% cases |
| Agammaglobulinemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with IGLL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent bacterial infections
Not very common - Between 30% and 50% cases
- Hypertelorism
- Conjunctivitis
- Recurrent skin infections
- Encephalitis
- Chronic otitis media
- Osteomyelitis
- Bronchiectasis
And 28 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IGLL1 gene
Here you will find a list of rare diseases related to the IGLL1. 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 2, AUTOSOMAL RECESSIVE; AGM2
Alternate names
AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2 Is also known as agammaglobulinemia, autosomal recessive, due to igll1 defect
Most common symptoms of AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2
- Arthritis
- Decreased antibody level in blood
- Meningitis
- Recurrent pneumonia
- Recurrent bacterial infections
More info about AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2
SOURCES: OMIM
Search interest in IGLL1
Potential gene panels for IGLL1 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.
B cell pathology panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht B cell pathology panel that also includes the following genes: BTK CD40 CD40LG UNG AICDA BLNK CD19 CD79A CD79B CD81
More info about this panel Netherlands.
Agammaglobulinemia type 2, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IGLL1 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.
Invitae Agammaglobulinemia Panel Panel
United States.
By Invitae Invitae Agammaglobulinemia Panel that also includes the following genes: BTK BLNK CD79A CD79B IGLL1 PIK3R1
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.
IGLL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IGLL1 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.
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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