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GTR Home > Conditions/Phenotypes > Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

Synonyms
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. Death in the first decade may occur (summary by Wiseman et al., 2013). [from OMIM]

Available tests

41 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CCA1, CGI-47, MtCCA, RPEM, SIFD, TRNT1
    Summary: tRNA nucleotidyl transferase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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