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
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
Search interest in MSN
Potential gene panels for MSN gene
MSN Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MSN gene.
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelSevere Combined Immunodeficiency Panel Panel
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 panelCaris MI TumorSeek 592-Gene NGS Panel Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CHRNE KLLN CHSY1 EPG5 PDE6D PTCHD1 COL11A1