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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-08-2016
Symbol BMFS3
Location 5p13.2
Name bone marrow failure syndrome 3
Corresponding gene DNAJC21
Main clinical features
  • hematopoietic defect in association with a range of variable extra hematopoietic features
  • global bone marrow failure associated with a reduction in all cell lineages in the peripheral blood; peripheral pancytopenia and intrauterine growth restriction and/or short stature; this disorder is associated with cancer predisposition
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Remark(s) . DNAJC21 deficiency resulted in cytoplasmic accumulation of the 60S nuclear export factor PA2G4, aberrant ribosome profiles, and increased cell death, and cause a cancer-prone BMF syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit (PMID: 27346687))