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GTR Home > Conditions/Phenotypes > Obesity due to pro-opiomelanocortin deficiency

Summary

Early-onset obesity with adrenal insuficiency and red hair (OBAIRH) is an autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. In the neonatal period, affected individuals are prone to hypoglycemia, hyperbilirubinemia, and cholestasis that may result in death if not treated. The disorder results from mutation in the POMC gene, which encodes a preproprotein that is processed into a range of bioactive peptides, including alpha-melanocyte-stimulating hormone (MSH) and ACTH (summary by Kuhnen et al., 2016 and Clement et al., 2008). [from OMIM]

Available tests

26 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: ACTH, CLIP, LPH, MSH, NPP, OBAIRH, POC, POMC
    Summary: proopiomelanocortin

Clinical features

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