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

SOURCES: OMIM ORPHANET MESH


Potential gene panels for MASP2 gene

Complement deficiencies Panel Panel

Germany.

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 panel
Germany.

MASP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MASP2 gene.

More info about this panel
United States.

Complement System Disorder Panel Panel

Finland.

By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S

More info about this panel
Finland.

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