POMC function has not been fully characterized.

Obesity due to pro-opiomelanocortin deficiency is associated with mutations in the POMC gene on chromosome 2.

Genetic testing for POMC is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for obesity due to pro-opiomelanocortin deficiency has been reported in the published literature.

No approved treatments are currently available for obesity due to pro-opiomelanocortin deficiency. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for obesity due to pro-opiomelanocortin deficiency, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for obesity due to pro-opiomelanocortin deficiency. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Phenotype severity distribution: 4 always present features, 1 very common feature, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

10 publications have been identified in PubMed for obesity due to pro-opiomelanocortin deficiency. Research spans Review / Meta-Analysis (30%), Clinical Trial Publication (20%), and Basic Science / Preclinical (20%).

Recent Publications

• Kahveci A (2026). [PMID: 42210527](https://pubmed.ncbi.nlm.nih.gov/42210527/). *Pediatr Obes*. [Epidemiology / Natural History]

• Yılmaz UC (2026). [PMID: 41848173](https://pubmed.ncbi.nlm.nih.gov/41848173/). *Journal of clinical research in pediatric endocrinology*. [Case Report / Case Series]

• Wardlaw SL (2026). [PMID: 41791764](https://pubmed.ncbi.nlm.nih.gov/41791764/). *Journal of neuroendocrinology*. [Diagnostic / Biomarker]

• Li Y (2026). [PMID: 41986358](https://pubmed.ncbi.nlm.nih.gov/41986358/). *Nat Commun*. [Basic Science / Preclinical]

• Argente J (2025). [PMID: 39549719](https://pubmed.ncbi.nlm.nih.gov/39549719/). *The lancet. Diabetes &amp; endocrinology*. [Clinical Trial Publication]

• Subramaniyan V (2025). [PMID: 40016558](https://pubmed.ncbi.nlm.nih.gov/40016558/). *International journal of obesity (2005)*. [Review / Meta-Analysis]

• Kahveci A (2025). [PMID: 39891402](https://pubmed.ncbi.nlm.nih.gov/39891402/). *European journal of endocrinology*. [Clinical Trial Publication]

• Ludwik KA (2025). [PMID: 40902325](https://pubmed.ncbi.nlm.nih.gov/40902325/). *Stem cell research*. [Basic Science / Preclinical]

• Collet TH (2024). [PMID: 39777073](https://pubmed.ncbi.nlm.nih.gov/39777073/). *Frontiers in nutrition*. [Review / Meta-Analysis]

• Qamar S (2024). [PMID: 39526054](https://pubmed.ncbi.nlm.nih.gov/39526054/). *TouchREVIEWS in endocrinology*. [Review / Meta-Analysis]