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Items: 4

1.

Mannose-binding lectin deficiency

MedGen UID:
482216
Concept ID:
C3280586
Disease or Syndrome
2.

PRETERM DELIVERY, SUSCEPTIBILITY TO

MedGen UID:
371982
Concept ID:
C1835145
Finding
3.

GESTATIONAL DIABETES MELLITUS, SUSCEPTIBILITY TO

MedGen UID:
320534
Concept ID:
C1835142
Finding
4.

Mannose-binding protein deficiency

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). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). Genetic Heterogeneity of Lectin Complement Activation Pathway Defects See also LCAPD2 (613791), caused by variation in the MASP2 gene (605102) on chromosome 1p36, and LCAPD3 (613860), caused by variation in the FCN3 gene (604973) on chromosome 1p36. [from OMIM]

MedGen UID:
320532
Concept ID:
C1835140
Disease or Syndrome
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