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Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Synonyms
GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE; Growth hormone insensitivity due to postreceptor defect; Growth hormone insensitivity with immunodeficiency; Laron syndrome due to postreceptor defect; Laron syndrome with immunodeficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; 139250). Affected individuals usually have failure to thrive, delayed bone age, and delayed puberty associated with decreased serum IGF1 (147440), IGFBP3 (146732), and ALS (601489). Some patients may have dysmorphic features. Most, but not all, patients have features of immune dysregulation, including chronic pulmonary disease, interstitial pneumonitis, recurrent or severe infections, eczema, and autoimmune arthritis. The immune features are highly variable (summary by Kofoed et al., 2003; Vidarsdottir et al., 2006). See 262500 for a form of growth hormone insensitivity caused by mutation in the growth hormone receptor gene (GHR; 600946). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 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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