MASP2 gene related symptoms and diseases
All the information presented here about the MASP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MASP2 gene
Symptoms // Phenotype | % Cases |
---|---|
Pneumonia | Very Common - Between 80% and 100% cases |
Myalgia | Very Common - Between 80% and 100% cases |
Erythema | Very Common - Between 80% and 100% cases |
Autoimmunity | Very Common - Between 80% and 100% cases |
Sepsis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MASP2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent pneumonia
- Vasculitis
- Systemic lupus erythematosus
- Colitis
- Ulcerative colitis
- Chronic obstructive pulmonary disease
- Complement deficiency
Rare diseases associated to MASP2 gene
Here you will find a list of rare diseases related to the MASP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY
Alternate names
IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY Is also known as lectin complement activation pathway, defect in, 2, lcapd2
Description
Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.
Most common symptoms of IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY
- Pneumonia
- Myalgia
- Erythema
- Autoimmunity
- Sepsis
More info about IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY
Search interest in MASP2
Potential gene panels for MASP2 gene
Complement deficiencies Panel Panel
By CeGaT GmbH Complement deficiencies Panel that also includes the following genes: CFB THBD SERPING1 C1QA C1QB C1QC C1R C1S C2 C3
More info about this panelMASP2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MASP2 gene.
More info about this panelComplement System Disorder Panel Panel
By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S
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