MCID: MNN041
MIFTS: 16

Mannose-Binding Lectin Protein Deficiency malady

Genetic diseases, Rare diseases categories
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Summaries for Mannose-Binding Lectin Protein Deficiency

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NIH Rare Diseases:42 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 based summary: 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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Mannose-Binding Lectin Protein Deficiency, Aliases & Descriptions:

Name: Mannose-Binding Lectin Protein Deficiency 42 62
Mannose-Binding Protein Deficiency 42 20 22 62
 
Mbl Deficiency 42 62


Classifications:

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


Related Diseases for Mannose-Binding Lectin Protein Deficiency

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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 deficiency10.5
2chronic infections, due to mbl deficiency10.4
3hepatitis10.3
4hepatitis b10.3
5malaria10.3
6systemic lupus erythematosus10.3
7lupus erythematosus10.3
8tuberculosis10.3
9cystic fibrosis10.1

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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Drug clinical trials:

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Search NIH Clinical Center for Mannose-Binding Lectin Protein Deficiency

Genetic Tests for Mannose-Binding Lectin Protein Deficiency

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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

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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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Expression for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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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

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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

Sources for Mannose-Binding Lectin Protein Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet