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GTR Home > Conditions/Phenotypes > Immunodeficiency 47

Immunodeficiency 47

Synonyms
IMMUNODEFICIENCY AND HEPATOPATHY WITH OR WITHOUT NEUROLOGIC FEATURES

Summary

Immunodeficiency-47 (IMD47) is an X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Some patients also have neurologic abnormalities (summary by Jansen et al., 2016). [from OMIM]

Available tests

20 tests are in the database for this condition.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 16A, ATP6IP1, ATP6S1, Ac45, CF2, VATPS1, XAP-3, XAP3, ATP6AP1
    Summary: ATPase H+ transporting accessory protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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