MCID: MNN041
MIFTS: 9

Mannose-Binding Lectin Protein Deficiency

Categories: Rare diseases

Aliases & Classifications for Mannose-Binding Lectin Protein Deficiency

MalaCards integrated aliases for Mannose-Binding Lectin Protein Deficiency:

Name: Mannose-Binding Lectin Protein Deficiency 49
Mannose-Binding Protein Deficiency 49 69
Mbl Deficiency 49

Classifications:



External Ids:

UMLS 69 C3280586

Summaries for Mannose-Binding Lectin Protein Deficiency

NIH Rare Diseases : 49 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. 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. Some studies have also suggested an association between severe MBL deficiency and recurrent infections. 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. 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. Last updated: 11/23/2016

MalaCards based summary : Mannose-Binding Lectin Protein Deficiency, also known as mannose-binding protein deficiency, is related to mannose-binding lectin deficiency. An important gene associated with Mannose-Binding Lectin Protein Deficiency is MBL2 (Mannose Binding Lectin 2).

Related Diseases for Mannose-Binding Lectin Protein Deficiency

Diseases related to Mannose-Binding Lectin Protein Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mannose-binding lectin deficiency 11.5

Symptoms & Phenotypes for Mannose-Binding Lectin Protein Deficiency

Drugs & Therapeutics for Mannose-Binding Lectin Protein Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Recombinant Human Mannose-Binding Lectin (MBL) in Treating Young Patients With MBL Deficiency and Fever and Neutropenia Withdrawn NCT00886496 Phase 1
2 Detection and Inflammatory Characterization of Deep Infection After Surgery for Locally Advanced Rectal Cancer With Microdialysis Catheters Recruiting NCT03392584

Search NIH Clinical Center for Mannose-Binding Lectin Protein Deficiency

Genetic Tests for Mannose-Binding Lectin Protein Deficiency

Anatomical Context for Mannose-Binding Lectin Protein Deficiency

Publications for Mannose-Binding Lectin Protein Deficiency

Articles related to Mannose-Binding Lectin Protein Deficiency:

# Title Authors Year
1
Mannose-binding lectin protein deficiency among patients with primary immunodeficiency disease receiving IVIG therapy. ( 29119939 )
2017

Variations for Mannose-Binding Lectin Protein Deficiency

ClinVar genetic disease variations for Mannose-Binding Lectin Protein Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MBL2 NM_000242.2(MBL2): c.161G> A (p.Gly54Asp) single nucleotide variant Pathogenic rs1800450 GRCh37 Chromosome 10, 54531235: 54531235
2 MBL2 NM_000242.2(MBL2): c.154C> T (p.Arg52Cys) single nucleotide variant Pathogenic rs5030737 GRCh37 Chromosome 10, 54531242: 54531242

Expression for Mannose-Binding Lectin Protein Deficiency

Search GEO for disease gene expression data for Mannose-Binding Lectin Protein Deficiency.

Pathways for Mannose-Binding Lectin Protein Deficiency

GO Terms for Mannose-Binding Lectin Protein Deficiency

Sources for Mannose-Binding Lectin Protein Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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