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GTR Home > Conditions/Phenotypes > Laron-type isolated somatotropin defect

Laron-type isolated somatotropin defect

Synonyms
Growth hormone binding protein deficiency or dysfunction; Growth hormone receptor deficiency; Growth hormone receptor deficiency or dysfunction; Laron Syndrome; Laron dwarfism; Laron type pituitary dwarfism I; Pituitary Dwarfism II
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to generate insulin-like growth factor I (IGF1; 147440) in response to growth hormone (GH; 139250). GH levels are normal or increased. The disorder is caused by dysfunction of the growth hormone receptor. A Laron syndrome-like phenotype associated with immunodeficiency (245590) is caused by a postreceptor defect, i.e., mutation in the STAT5B gene (604260). Patients with mutations in the GHR gene that cause only partial insensitivity to growth hormone have a form of short stature (604271). [from OMIM]

Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GHBP, GHIP, GHR
    Summary: growth hormone receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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