Details for phenotype: Leprechaunism

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EndoNet ID: ENP00460

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Name

Leprechaunism

General information

This phenotype is pathologic

• Mutations in the insulin receptor gene cause the rare inherited insulin-resistant disorders leprechaunism. Patients with leprechaunism have growth restriction, altered glucose homeostasis and early death. [1]

Links to other resources

OMIM	246200
Disease database	30801

Phenotype triggers

• no activity (knock out experiment or RNAi) of insulin receptor ui-button
  in beta_cell_of_islet_of_Langerhans ui-button
  • Mutations in the insulin receptor (null phenotype) can lead to severe insulin resistance and clinical defects such as leprechaunism. [2]

EndoNet at the Institut for Bioinformatics UMG Göttingen