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GTR Home > Conditions/Phenotypes > Bone marrow failure syndrome 4

Bone marrow failure syndrome 4

Summary

BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675). [from OMIM]

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 2A-DUB, 2ADUB, BMFS4, MYSM1
    Summary: Myb like, SWIRM and MPN domains 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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