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;
Origin ID : 614372;
UMLS CUI : C3280586;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
Semantic type(s)
UMLS correspondences (same concept)