MCID: MNN041
MIFTS: 16

Mannose-Binding Lectin Protein Deficiency malady

Genetic diseases, Rare diseases categories

Summaries for Mannose-Binding Lectin Protein Deficiency

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 Mannose-binding lectin protein (mbl) deficiency is a complement component deficiency that alters the function of the body's immune system. this condition usually causes frequent and sometimes severe infections in infants and young children. this deficiency can occur as a result of one or more variations in the mbl2 gene, which codes for the mbl protein. a lack of this protein can cause this condition, but is likely further influenced by other genetic and environmental factors. last updated: 4/9/2012

MalaCards: Mannose-Binding Lectin Protein Deficiency, also known as mannose-binding protein deficiency, is related to mannose-binding lectin deficiency and chronic infections, due to mbl deficiency. An important gene associated with Mannose-Binding Lectin Protein Deficiency is MBL2 (mannose-binding lectin (protein C) 2, soluble).

Aliases & Classifications for Mannose-Binding Lectin Protein Deficiency

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44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

mannose-binding lectin protein deficiency 44
mannose-binding protein deficiency 44 21 23 63
mbl deficiency 44


Related Diseases for Mannose-Binding Lectin Protein Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Mannose-Binding Lectin Protein Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mannose-binding lectin deficiency10.4
2chronic infections, due to mbl deficiency10.4
3hepatitis b10.3
4systemic lupus erythematosus10.3
5hepatitis10.3
6lupus erythematosus10.3
7malaria10.3
8tuberculosis10.3
9cystic fibrosis10.1
10rheumatic heart disease10.1

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



Diseases related to mannose-binding lectin protein deficiency

Symptoms for Mannose-Binding Lectin Protein Deficiency

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Drugs & Therapeutics for Mannose-Binding Lectin Protein Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Mannose-Binding Lectin Protein Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Mannose-Binding Lectin Protein Deficiency:

id Genetic test Affiliating Genes
1 Mannose-Binding Protein Deficiency21 23 MBL2

Anatomical Context for Mannose-Binding Lectin Protein Deficiency

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Animal Models for Mannose-Binding Lectin Protein Deficiency or affiliated genes

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Publications for Mannose-Binding Lectin Protein Deficiency

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Variations for Mannose-Binding Lectin Protein Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Mannose-Binding Lectin Protein Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1MBL2NM_000242.2(MBL2): c.161G> A (p.Gly54Asp)single nucleotide variantPathogenic, risk factorrs1800450GRCh37Chr 10, 54531235: 54531235
2MBL2NM_000242.2(MBL2): c.170G> A (p.Gly57Glu)single nucleotide variantPathogenic, risk factorrs1800451GRCh37Chr 10, 54531226: 54531226
3MBL2NM_000242.2(MBL2): c.154C> T (p.Arg52Cys)single nucleotide variantPathogenic, risk factorrs5030737GRCh37Chr 10, 54531242: 54531242

Expression for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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Pathways for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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Compounds for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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GO Terms for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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Products for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mannose-Binding Lectin Protein Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet