MASP2 deficiency, classically defined as MASP2 protein level of less than 100 ng/ml, occurs in about 4% of Caucasians and up to 18% of some African populations. Some MASP2-deficient individuals have increased risk of infection or autoimmune disease, but most are asymptomatic. MASP2 plays a role in activation of the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Thiel et al., 2007 and Sokolowska et al., 2015).For a discussion of genetic heterogeneity of lectin complement activation pathway defects, see LCAPD1 (OMIM ).
Genes related to Masp2 Deficiency
Clinical FeaturesTop most frequent phenotypes and symptoms related to Masp2 Deficiency
- Recurrent pneumonia
- Systemic lupus erythematosus
- Ulcerative colitis
Incidence and onset information— Not enough data available about incidence and published cases.
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Masp2 Deficiency Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Complement deficiencies Panel.
By CeGaT GmbH in Germany.
PIGA, CFB, CFI, CFH, CD46, C3, THBD, C1S, C1R, CFHR1, CFHR3, DGKE, MASP1, C7, FCN3, CFD, C2, SERPING1, C1QC, C1QA , (...)
View the complete list with 14 more genes
By Fulgent Genetics Fulgent Genetics in United States.
Complement System Disorder Panel.
By Blueprint Genetics in Finland.
CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9 , (...)
View the complete list with 55 more genes
Masp2 Deficiency Is also known as lectin complement activation pathway, defect in, 2;lcapd2;.
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