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Disease Profile

Mannose-binding lectin protein deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

MBL deficiency; Mannose-binding protein deficiency

Categories

Metabolic disorders

Summary

Mannose-binding lectin (MBL) deficiency results in a decreased amount of a specific protein (mannan-binding protein) involved in the immune system. It was originally thought that MBL deficiency resulted in an increased susceptibility to infections. However, low levels of this protein have been found in many healthy people.[1] MBL deficiency is more likely to be associated with infections in toddlers and those who have a weakened immune system (immunocompromised), including those with an underlying medical condition, cancer patients undergoing chemotherapy, and organ-transplant patients.[1][2][3] Some studies have also suggested an association between severe MBL deficiency and recurrent infections.[4] MBL deficiency is caused by changes in the MBL2 gene. However, it is important to note that changes in this gene are very common in the general population.[2][3] Treatment for individuals with recurrent infections and MBL deficiency may include antibiotics to treat bacterial infections and regular vaccinations. Prophylactic antibiotics may be indicated in some cases.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Disseminated cryptosporidium infection
0031699
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Recurrent herpes
Susceptibility to herpesvirus
0005353
Recurrent Klebsiella infections
0002742
Recurrent meningococcal disease
Increased susceptibility to neisseria meningitidis infections
0005381
Recurrent skin infections
Skin infections, recurrent
0001581

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • MedlinePlus Genetics contains information on Mannose-binding lectin protein deficiency. This website is maintained by the National Library of Medicine.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Mannose-binding lectin protein deficiency. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles

            References

            1. Bronkhorst MW and Bouwman LH. Mannose-binding lectin deficiency. UpToDate. July 13 2016; https://www.uptodate.com/contents/mannose-binding-lectin-deficiency.
            2. Mannose-binding lectin deficiency. Genetics Home Reference. March 2012; https://ghr.nlm.nih.gov/condition/mannose-binding-lectin-deficiency.
            3. Kniffen CL and Gross. Mannose-binding Lectin Protein Deficiency. Online Mendelian Inheritance in Man (OMIM). June 2 2016; https://www.omim.org/entry/614372.
            4. Holdaway J, Deacock S, Williams P, Karim Y. Mannose-binding lectin deficiency and predisposition to recurrent infection in adults. J Clin Pathol. August 2016; 69(8):731-6. https://www.ncbi.nlm.nih.gov/pubmed/26837313.