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.

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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

SOURCES: OMIM ORPHANET

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


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

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

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

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

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

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

IGLL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IGLL1 gene.

More info about this panel

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

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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