MCID: MNN041
MIFTS: 12

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 52
Mannose-Binding Protein Deficiency 52 71
Mbl Deficiency 52

Classifications:



External Ids:

UMLS 71 C3280586

Summaries for Mannose-Binding Lectin Protein Deficiency

NIH Rare Diseases : 52 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.

MalaCards based summary : Mannose-Binding Lectin Protein Deficiency, also known as mannose-binding protein deficiency, is related to mannose-binding lectin deficiency and otitis media.

Related Diseases for Mannose-Binding Lectin Protein Deficiency

Graphical network of the top 20 diseases related to Mannose-Binding Lectin Protein Deficiency:



Diseases related to Mannose-Binding Lectin Protein Deficiency

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 A Multi-Center Study of the Safety, Tolerability, Pharmacokinetics and Dose Escalation of Intravenous Recombinant Human Mannose-Binding-Lectin (rhMBL) in MBL Deficient Pediatric Hematology/Oncology Patients With Fever and Neutropenia Withdrawn NCT00886496 Phase 1
2 Significance of Ficolin 2 in the Determination of Serological Activity in Chronic Inflammatory Bowel Disease Completed NCT01473927

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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 PMID Year
1
Mannose-binding lectin deficiency and predisposition to recurrent infection in adults. 52
26837313 2016
2
Mannose-Binding Lectin Protein Deficiency Among Patients with Primary Immunodeficiency Disease Receiving IVIG Therapy. 61
29119939 2018
3
Mannose binding protein deficiency is not associated with malaria, hepatitis B carriage nor tuberculosis in Africans. 61
9519208 1998
4
Frequency of mannose-binding protein deficiency in patients with systemic lupus erythematosus. 61
7488298 1995

Variations for Mannose-Binding Lectin Protein Deficiency

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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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