MBL2 gene related symptoms and diseases

All the information presented here about the MBL2 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 MBL2 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Chronic diarrhea Very Common - Between 80% and 100% cases
Recurrent meningococcal disease Very Common - Between 80% and 100% cases
Susceptibility to herpesvirus Very Common - Between 80% and 100% cases
Recurrent Klebsiella infections Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MBL2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • IgA deficiency
  • Recurrent skin infections
  • Recurrent bacterial infections
  • Meningitis
  • Otitis media
  • Failure to thrive
  • Sepsis
  • Respiratory tract infection

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MBL2 gene

Here you will find a list of rare diseases related to the MBL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MANNOSE-BINDING LECTIN DEFICIENCY; MBLD


Alternate 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

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.

Most common symptoms of MANNOSE-BINDING LECTIN DEFICIENCY; MBLD

  • Neoplasm
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


More info about MANNOSE-BINDING LECTIN DEFICIENCY; MBLD

SOURCES: MESH OMIM


Potential gene panels for MBL2 gene

Mannose-binding protein deficiency (sequence analysis of MBL2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MBL2 gene.

More info about this panel

Mannose-binding protein deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MBL2 gene.

More info about this panel

Combined immunodeficiencies Panel Panel

Germany.

By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40

More info about this panel

Mannose-binding protein deficiency Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MBL2 gene.

More info about this panel

Mannose-binding protein deficiency Panel

Slovakia.

By MedGene

This panel specifically test the MBL2 gene.

More info about this panel

MBL deficiency: MBL2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the MBL2 gene.

More info about this panel

MBL2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MBL2 gene.

More info about this panel

MBL (Mannose Binding Lectin) Deficiency , Sequencing MBL2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MBL2 gene.

More info about this panel

Mannose-binding protein deficiency Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the MBL2 gene.

More info about this panel


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