Masp2 Deficiency

Description

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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Masp2 Deficiency

  • Pica
  • Pneumonia
  • Erythema
  • Myalgia
  • Sepsis
  • Recurrent pneumonia
  • Vasculitis
  • Systemic lupus erythematosus
  • Colitis
  • Ulcerative colitis
And another 2 symptoms. If you need more information about this disease we can help you.
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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
Specificity
3 %
Genes
100 %
MASP2.

By Fulgent Genetics Fulgent Genetics in United States.

MASP2
Specificity
100 %
Genes
100 %
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
Specificity
2 %
Genes
100 %

Alternate names

Masp2 Deficiency Is also known as lectin complement activation pathway, defect in, 2;lcapd2;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS; MCCPD PEHO SYNDROME; PEHO

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