MCID: MNN041
MIFTS: 8

Mannose-Binding Lectin Protein Deficiency malady

Categories: Rare diseases

Aliases & Classifications for Mannose-Binding Lectin Protein Deficiency

Aliases & Descriptions for Mannose-Binding Lectin Protein Deficiency:

Name: Mannose-Binding Lectin Protein Deficiency 50
Mannose-Binding Protein Deficiency 50 69
Mbl Deficiency 50

Classifications:



Summaries for Mannose-Binding Lectin Protein Deficiency

NIH Rare Diseases : 50 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 chronic infections, due to mbl deficiency. The drugs Melphalan and Antibodies have been mentioned in the context of this disorder.

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:

id Related Disease Score Top Affiliating Genes
1 chronic infections, due to mbl deficiency 11.4

Symptoms & Phenotypes for Mannose-Binding Lectin Protein Deficiency

Drugs & Therapeutics for Mannose-Binding Lectin Protein Deficiency

Drugs for Mannose-Binding Lectin Protein Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melphalan Approved Phase 1 148-82-3 4053 460612
2 Antibodies
3 Immunoglobulins

Interventional clinical trials:


id Name Status NCT ID Phase
1 Intravenous rhMBL in Patients With Multiple Myeloma Receiving Chemotherapy Followed by Stem Cell Transplant Completed NCT00388999 Phase 1
2 Recombinant Human Mannose-Binding Lectin (MBL) in Treating Young Patients With MBL Deficiency and Fever and Neutropenia Withdrawn NCT00886496 Phase 1
3 Bronchial Inflammation in Patients With Severe Immune Deficiency Under Immunoglobulin Treatment Unknown status NCT01359384

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

Variations for Mannose-Binding Lectin Protein Deficiency

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

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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