Mannose-Binding Lectin Deficiency (MBLD)

Alias:
Mannose-Binding Protein Deficiency
Mbl Deficiency
Mbl2 Deficiency
Mbp Deficiency
Lectin Complement Activation Pathway, Defect in, 1
Chronic Infections, Due to Mbl Deficiency
Mannose-Binding Lectin Protein Deficiency
Lcapd1
Mbld
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mannose-Binding Lectin Deficiency, also known as mannose-binding protein deficiency, is related to bronchiectasis and meningitis. An important gene associated with Mannose-Binding Lectin Deficiency is MBL2 (Mannose Binding Lectin 2), and among its related pathways/superpathways is Toll-like receptor signaling pathway. The drug Lectins has been mentioned in the context of this disorder. Affiliated tissues include liver and skin, and related phenotypes are failure to thrive and recurrent skin infections

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
2
19
27

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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