MSN gene related symptoms and diseases

All the information presented here about the MSN 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 MSN gene

Symptoms // Phenotype % Cases
Immunodeficiency Very Common - Between 80% and 100% cases
Recurrent respiratory infections Very Common - Between 80% and 100% cases
Neutropenia Very Common - Between 80% and 100% cases
Decreased antibody level in blood Very Common - Between 80% and 100% cases
Eczema Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MSN gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Recurrent urinary tract infections
  • Lymphopenia
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Rare diseases associated to MSN gene

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


COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY


Alternate names

COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY Is also known as cid due to moesin deficiency, msn-related combined immunodeficiency, immunodeficiency 50, x-linked recessive, x-linked moesin-associated immunodeficiency

Description

IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).

Most common symptoms of COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY

  • Immunodeficiency
  • Recurrent respiratory infections
  • Neutropenia
  • Decreased antibody level in blood
  • Eczema


More info about COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for MSN gene

MSN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MSN 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

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel


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