Mannose-binding lectin deficiency

Preferred Label : Mannose-binding lectin deficiency;

Symbol : MBLD;

CISMeF acronym : LCAPD1; MBLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lectin complement activation pathway, defect in, 1; Mbl2 deficiency; Mbl deficiency; LCAPD1; Mbp deficiency; Mannose-binding protein deficiency;

Description : Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by variation in the soluble mannose-binding lectin 2 gene (MBL2, 154545.0001);

Laboratory abnormalities : Decreased levels of circulating mannan-binding lectin;

Prefixed ID : #614372;

Détails

Origin ID

614372;

UMLS CUI

C3280586;

Automatic exact mappings (from CISMeF team)
- MBL deficiency [MedDRA LLT]
- Mannose-binding lectin deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Immunodeficiency with MBL - [mannan-binding lectin] deficiency [ICD-11 More detail]
- Mannose-Binding protein deficiency [MeSH concept]
- Mannose-Binding protein deficiency [MeSH Supplementary Concept]
- Mannose-binding lectin deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Mannose-binding lectin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Disseminated cryptosporidium infection [HPO term]
- Failure to thrive [HPO term]
- Recurrent Klebsiella infections [HPO term]
- Recurrent herpes [HPO term]
- Recurrent meningococcal disease [HPO term]
- Recurrent skin infections [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency with MBL - [mannan-binding lectin] deficiency [ICD-11 More detail]
- MBL deficiency [MedDRA LLT]
- Mannose-Binding protein deficiency [MeSH Supplementary Concept]
- Mannose-Binding protein deficiency [MeSH concept]
- Mannose-binding lectin deficiency [MedDRA Preferred Term]
- Mannose-binding lectin deficiency (disorder) [SNOMED CT concept]

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