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ORPHA:71526

Obesity due to pro-opiomelanocortin deficiency

low confidenceSubtype of disorder

Also known as: POMC deficiency

Publications

276,622

Trials

4

Interventional, condition-specific

Researchers

1,014

Distinct authors in sample

Gene link

POMC

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — POMC

  2. LiteraturePresent

    276,622 matched papers (141,065 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Adrenocorticotropic hormone deficiency; Hyperbilirubinemia; Adrenal hypoplasia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    4 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)

31

Associated phenotypes · MONDO:0012335

  • Adrenocorticotropic hormone deficiency
  • Hyperbilirubinemia
  • Adrenal hypoplasia
  • Obesity
  • Cholestasis

Showing 5 of 31 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0012335

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

276,622

276,622 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

276,622 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

141,065 in the last 10 years · low confidence

Phrase hits: 353 · MeSH hits: 1

Open Europe PMC search

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.

  1. 01
    Clément K10 papers · 2026

    Sorbonne Université, INSERM, Nutrition and Obesity: Systemic Approaches, NutriOmics, Research Unit, Paris, France

    Papers in Europe PMC
  2. 02
    Kühnen 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
  3. 03
    Wabitsch M9 papers · 2025

    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany.

    Papers in Europe PMC
  4. 04
    Dubern B7 papers · 2026

    Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Department of Pediatric Nutrition and Gastroenterology, Trousseau Hospital, Paris, France

    Papers in Europe PMC
  5. 05
    Low 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
  6. 06
    Roth CL6 papers · 2026

    Seattle Children's Research Institute, Seattle, WA, USA.

    Papers in Europe PMC
  7. 07
    Acosta A5 papers · 2025

    Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  8. 08
    Farooqi 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
  9. 09
    van den Akker E5 papers · 2025

    Erasmus University Medical Center , Rotterdam ,

    Papers in Europe PMC
  10. 10
    van 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?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 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

2 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.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 60 · after dedupe 53 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 53 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (53)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Obesity due to pro-opiomelanocortin deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Proopiomelanocortin Deficiency") OR ("POMC" OR "POMC syndrome" OR "POMC-related")

Run this search on Europe PMC

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"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (276622) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:42:45.941Z