Proopiomelanocortin deficiency

Common Name(s)

Proopiomelanocortin deficiency

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 {4:Kuhnen et al., 2016} and {1:Clement et al., 2008}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Proopiomelanocortin deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Proopiomelanocortin deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.
 

Author(s): Semra Çetinkaya, Tülay Güran, Erdal Kurnaz, Melikşah Keskin, Elif Sağsak, Senay Savaş Erdeve, Jenifer P Suntharalingham, Federica Buonocore, John C Achermann, Zehra Aycan

Journal: J Clin Res Pediatr Endocrinol. 2018 Mar;10(1):68-73.

 

Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder with early-onset obesity. Investigation of this entity have increased our insight into the important role of the leptin-melanocortin pathway in energy balance. Here, we present a patient with POMC deficiency due to ...

Last Updated: 31 Dec 1969

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Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist.
 

Author(s): Peter Kühnen, Karine Clément, Susanna Wiegand, Oliver Blankenstein, Keith Gottesdiener, Lea L Martini, Knut Mai, Ulrike Blume-Peytavi, Annette Grüters, Heiko Krude

Journal: N. Engl. J. Med.. 2016 Jul;375(3):240-6.

 

Patients with rare defects in the gene encoding proopiomelanocortin (POMC) have extreme early-onset obesity, hyperphagia, hypopigmentation, and hypocortisolism, resulting from the lack of the proopiomelanocortin-derived peptides melanocyte-stimulating hormone and corticotropin. In ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Proopiomelanocortin deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Setmelanotide for the Treatment of Early-Onset POMC Deficiency Obesity
 

Status: Recruiting

Condition Summary: Pro-opiomelanocortin (POMC) Deficiency Obesity

 

Last Updated: 14 Aug 2018

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An Observational,Prospective Natural History Study of Early-Onset Extreme Obesity Due to Bi-Allelic Loss-of-Function Mutations in the POMC, PCSK1 or LEPR Genes
 

Status: Not yet recruiting

Condition Summary: POMC Deficiency Obesity; PCSK1 Deficiency Obesity; LEPR Deficiency Obesity

 

Last Updated: 16 Aug 2018

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Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity
 

Status: Recruiting

Condition Summary: Pro-opiomelanocortin (POMC) Deficiency Obesity (Heterozygous or Epigenetic); Leptin Receptor Deficiency Obesity; Bardet-Biedl Syndrome; Alstrom Syndrome; Smith-Magenis Syndrome

 

Last Updated: 30 Oct 2018

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