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GTR Home > Conditions/Phenotypes > Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant

Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant

Summary

Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; 139250). Affected individuals usually have delayed bone age, delayed puberty, and decreased serum IGF1 (147440). Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease (summary by Klammt et al., 2018). [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GHISID2, STAT5, STAT5B
    Summary: signal transducer and activator of transcription 5B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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