MCID: MNN041
MIFTS: 14

Mannose-Binding Lectin Protein Deficiency malady

Summaries for Mannose-Binding Lectin Protein Deficiency

Sources:
43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS
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Aliases & Descriptions:

mannose-binding lectin protein deficiency 43
mannose-binding protein deficiency 43 20 22 61
mbl deficiency 43


Related Diseases for Mannose-Binding Lectin Protein Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Mannose-Binding Lectin Protein Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1mannose-binding lectin deficiency10.4
2chronic infections, due to mbl deficiency10.4
3hepatitis c10.2
4systemic lupus erythematosus10.2
5protein s deficiency10.2
6hepatitis b10.2
7hepatitis d10.2
8protein c deficiency10.2
9hepatitis a10.2
10tuberculosis10.2
11cystic fibrosis10.1
12rheumatic disease10.1

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



Diseases related to mannose-binding lectin protein deficiency

Clinical Features for Mannose-Binding Lectin Protein Deficiency

Drugs & Therapeutics for Mannose-Binding Lectin Protein Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
20GeneTests, 22GTR
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Genetic tests related to Mannose-Binding Lectin Protein Deficiency:

id Genetic test Affiliating Genes
1 Mannose-binding Protein Deficiency20 22 MBL2

Anatomical Context for Mannose-Binding Lectin Protein Deficiency

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

Sources:
28inGenious Targeting Laboratory
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Publications for Mannose-Binding Lectin Protein Deficiency

Genetic Variations for Mannose-Binding Lectin Protein Deficiency

Expression for genes affiliated with Mannose-Binding Lectin Protein Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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

Pathways for genes affiliated with Mannose-Binding Lectin Protein Deficiency

Compounds for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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

Products for genes affiliated with Mannose-Binding Lectin Protein Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mannose-Binding Lectin Protein Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet