Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 03-04-2009
Symbol LAD3
Location 11q13.1
Name leukocyte adhesion deficiency 3
Corresponding gene FERMT3
Main clinical features
  • complete inability to induce activation of beta1, beta2 and beta3 integrins in hematopoietic cells, resulting in severe bleeding due to impaired platelet aggregation and recurrent infections due to abrogated leukocyte adhesion to activated endothelial cells
    • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function inactivating mutation (PMID: 19234463)
    Remark(s)