ORPHA:71526
Obesity due to pro-opiomelanocortin deficiency
Also known as: POMC deficiency
Publications
354
83.1th percentile
Trials
5
Interventional, condition-specific
Researchers
1,014
Distinct authors in sample
Gene link
POMC
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012335
- MeSH:C565726
- OMIM:609734
- UMLS:C1857854
Additional Mondo synonyms (2)
POMC Deficiency · obesity, adrenal insufficiency, and red hair due to POMC deficiency
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — POMC
- LiteraturePresent
354 matched papers (270 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
5 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (POMC).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
354
354 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
354 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
270 in the last 10 years · medium confidence · 83.1th percentile (publications denominator)
Phrase hits: 353 · MeSH hits: 1
Who's working on it?
1,014
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Clément K10 papers · 2026
Sorbonne Université, INSERM, Nutrition and Obesity: Systemic Approaches, NutriOmics, Research Unit, Paris, France
Papers in Europe PMC - 02Kühnen P10 papers · 2025
Institute of Experimental Pediatric Endocrinology, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
Papers in Europe PMC - 03Wabitsch M9 papers · 2025
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany.
Papers in Europe PMC - 04Dubern B7 papers · 2026
Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Department of Pediatric Nutrition and Gastroenterology, Trousseau Hospital, Paris, France
Papers in Europe PMC - 05Low MJ6 papers · 2021
Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Medical School, Ann Arbor, MI mjlow@umich.edu.
Papers in Europe PMC - 06
- 07Acosta A5 papers · 2025
Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA.
Papers in Europe PMC - 08Farooqi IS5 papers · 2026
University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0QQ, United Kingdom. Electronic address: isf20@cam.ac.uk.
Papers in Europe PMC - 09
- 10van den Akker ELT5 papers · 2025
Pediatric Endocrinology - Obesity Center CGG, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
5
interventional trials for this specific condition
5 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).
medium confidence · 87.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
5 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Obesity due to pro-opiomelanocortin deficiency" OR "POMC deficiency" OR "obesity, adrenal insufficiency, and red hair due to POMC deficiency"
MeSH descriptor terms unioned into the query: Proopiomelanocortin Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Obesity due to pro-opiomelanocortin deficiency" OR "POMC deficiency" OR "obesity, adrenal insufficiency, and red hair due to POMC deficiency" OR "Proopiomelanocortin Deficiency" OR "POMC"
Recall-expansion terms: POMC
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 5 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (354) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T01:42:45.941Z