Mannose-binding Lectin Deficiency; Mbld

Description

Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). Genetic Heterogeneity of Lectin Complement Activation Pathway DefectsSee also LCAPD2 (OMIM ), caused by variation in the MASP2 gene (OMIM ) on chromosome 1p36, and LCAPD3 (OMIM ), caused by variation in the FCN3 gene (OMIM ) on chromosome 1p36.

Clinical Features

Top most frequent phenotypes and symptoms related to Mannose-binding Lectin Deficiency; Mbld

  • Neoplasm
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Respiratory failure
  • Respiratory tract infection
  • Sepsis
  • Otitis media

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Mannose-binding Lectin Deficiency; Mbld Is also known as mbl deficiency, mbl2 deficiency, lcapd1, mannose-binding protein deficiency, mbp deficiency, lectin complement activation pathway, defect in, 1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Mannose-binding Lectin Deficiency; Mbld Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mannose-binding protein deficiency (sequence analysis of MBL2 gene).

By CGC Genetics (Portugal).

MBL2
Specificity
100 %
Genes
100 %
Mannose-binding protein deficiency.

By Centogene AG - the Rare Disease Company (Germany).

MBL2
Specificity
100 %
Genes
100 %
Combined immunodeficiencies Panel.

By CeGaT GmbH (Germany).

RMRP, SEMA3E, STAT5B, STIM1, STK4, TAPBP, TBX1, THBD, TNFRSF4, CD40, CD27, CD40LG, TRAC, ACP5, FOXN1, ZAP70, CARD11, CD3D, CD3E, CD3G , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Mannose-binding protein deficiency.

By Praxis fuer Humangenetik Wien (Austria).

MBL2
Specificity
100 %
Genes
100 %
Mannose-binding protein deficiency.

By MedGene (Slovakia).

MBL2
Specificity
100 %
Genes
100 %
MBL deficiency: MBL2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

MBL2
Specificity
100 %
Genes
100 %
MBL2.

By Fulgent Genetics Fulgent Genetics (United States).

MBL2
Specificity
100 %
Genes
100 %
MBL (Mannose Binding Lectin) Deficiency , Sequencing MBL2 Gene.

By Reference Laboratory Genetics (Spain).

MBL2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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