MCID: MNN041
MIFTS: 10

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 53
Mannose-Binding Protein Deficiency 53 73
Mbl Deficiency 53

Classifications:



External Ids:

UMLS 73 C3280586

Summaries for Mannose-Binding Lectin Protein Deficiency

NIH Rare Diseases : 53 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.

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Recombinant Human Mannose-Binding Lectin (MBL) in Treating Young Patients With MBL Deficiency and Fever and Neutropenia Withdrawn NCT00886496 Phase 1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
2
Mannose binding protein deficiency is not associated with malaria, hepatitis B carriage nor tuberculosis in Africans. ( 9519208 )
1998
3
Frequency of mannose-binding protein deficiency in patients with systemic lupus erythematosus. ( 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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