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.
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).
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
Search interest in MBL2
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 Portugal.
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 Germany.
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 Germany.
Mannose-binding protein deficiency Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the MBL2 gene.
More info about this panel Austria.
Mannose-binding protein deficiency Panel
Slovakia.
By MedGene
This panel specifically test the MBL2 gene.
More info about this panel Slovakia.
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 Spain.
MBL2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MBL2 gene.
More info about this panel United States.
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 Spain.
Mannose-binding protein deficiency Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the MBL2 gene.
More info about this panel Germany.
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