MS4A1 gene related symptoms and diseases

All the information presented here about the MS4A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MS4A1 gene

Symptoms // Phenotype % Cases
Recurrent bacterial infections Very Common - Between 80% and 100% cases
Immunodeficiency Very Common - Between 80% and 100% cases
Recurrent respiratory infections Very Common - Between 80% and 100% cases
Decreased antibody level in blood Very Common - Between 80% and 100% cases
Autoimmune thrombocytopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MS4A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormal intestine morphology
  • Failure to thrive in infancy
  • Chronic otitis media
  • Emphysema
  • Restrictive ventilatory defect
  • Bronchitis
  • Recurrent sinusitis
  • IgA deficiency

And 36 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MS4A1 gene

Here you will find a list of rare diseases related to the MS4A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMMON VARIABLE IMMUNODEFICIENCY


Alternate names

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency, cvid, antibody deficiency due to icos defect, idiopathic immunoglobulin deficiency, primary hypogammaglobulinemia

Description

Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

Most common symptoms of COMMON VARIABLE IMMUNODEFICIENCY

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


More info about COMMON VARIABLE IMMUNODEFICIENCY

SOURCES: ORPHANET OMIM

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5


Alternate names

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Most common symptoms of IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

SOURCES: OMIM


Potential gene panels for MS4A1 gene

MS4A1 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the MS4A1 gene.

More info about this panel

MS4A1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the MS4A1 gene.

More info about this panel

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

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

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

Common variable immunodeficiency Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Common variable immunodeficiency that also includes the following genes: CD19 CD81 TNFRSF13C TNFRSF13B CR2 ICOS IL21 MS4A1 NFKB1

More info about this panel

MS4A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MS4A1 gene.

More info about this panel

Immune Report Card Panel

United States.

By OmniSeq, Inc. Immune Report Card that also includes the following genes: CXCL10 STAT1 TBX21 TGFB1 TNF TNFRSF14 TNFRSF18 CD40 CD27 TNFRSF9

More info about this panel

COMMON VARIABLE IMMUNODEFICIENCY DUE TO AN INTRINSIC T-CELL DEFECT Panel

Spain.

By Laboratorio de Genetica Clinica SL COMMON VARIABLE IMMUNODEFICIENCY DUE TO AN INTRINSIC T-CELL DEFECT that also includes the following genes: ICOS MS4A1

More info about this panel

COMMON VARIABLE IMMUNODEFICIENCY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL COMMON VARIABLE IMMUNODEFICIENCY NGS PANEL that also includes the following genes: IKZF1 CD19 CD81 LRBA TNFRSF13C TNFRSF13B IRF2BP2 CR2 ICOS IL21

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

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel


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