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Bone marrow failure and diabetes mellitus syndrome

Summary

Bone marrow failure and diabetes mellitus syndrome (BMFDMS) is an autosomal recessive disorder characterized by the onset of manifestations of bone marrow failure, such as anemia, thrombocytopenia, and dyserythropoiesis, in infancy or early childhood. White blood cell lineages may or may not be affected. Patients with BMFDMS also develop nonautoimmune insulin-dependent diabetes mellitus in the first or second decades, likely due to apoptosis of pancreatic beta cells. Many patients show pigmentary skin abnormalities and short stature. Bone marrow transplant is curative for the bone marrow failure, but does not have an effect on diabetes (Dos Santos et al., 2017). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BMFDMS, dUTPase, DUT
    Summary: deoxyuridine triphosphatase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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