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GTR Home > Conditions/Phenotypes > Bone marrow failure syndrome 3

Bone marrow failure syndrome 3

Summary

Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016). BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675). [from OMIM]

Available tests

26 tests are in the database for this condition.

Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BMFS3, DNAJA5, GS3, JJJ1, DNAJC21
    Summary: DnaJ heat shock protein family (Hsp40) member C21

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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