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ORPHA:71529

Obesity due to melanocortin 4 receptor deficiency

high confidenceSubtype of disorder

Also known as: MC4R deficiency

Publications

11,997

96th percentile

Trials

1

Interventional, condition-specific

Researchers

1,125

Distinct authors in sample

Gene link

MC4R

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

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 — MC4R

  2. LiteraturePresent

    11,997 matched papers (7,101 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Increased adipose tissue; Childhood-onset truncal obesity; Hypertriglyceridemia) 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

    1 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 (MC4R).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

10

Associated phenotypes · MONDO:0019115

  • Increased adipose tissue
  • Childhood-onset truncal obesity
  • Hypertriglyceridemia
  • Obesity
  • Hyperinsulinemia

Showing 5 of 10 — 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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

11,997

11,997 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.

11,997 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).

7,101 in the last 10 years · high confidence · 96th percentile (publications denominator)

Phrase hits: 415 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,125

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
    Farooqi IS17 papers · 2026

    University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK. Electronic address: isf20@cam.ac.uk.

    Papers in Europe PMC
  2. 02
    Henning E11 papers · 2025

    University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

    Papers in Europe PMC
  3. 03
    Keogh JM10 papers · 2025

    University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

    Papers in Europe PMC
  4. 04
    do Carmo JM8 papers · 2024

    Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi.

    Papers in Europe PMC
  5. 05
    O'Rahilly S8 papers · 2026

    MRC Metabolic Diseases Unit, Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Treatment Centre, University of Cambridge, Cambridge, U.K. so104@medschl.cam.ac.uk.

    Papers in Europe PMC
  6. 06
    van den Akker ELT8 papers · 2026

    Pediatric Endocrinology and Obesity Center CGG, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands. e.l.t.vandenakker@erasmusmc.nl.

    Papers in Europe PMC
  7. 07
    Hall JE7 papers · 2024

    Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi; Mississippi Center for Obesity Research, University of Mississippi Medical Center, Jackson, Mississippi; and.

    Papers in Europe PMC
  8. 08
    van der Klaauw AA7 papers · 2022

    University of Cambridge Metabolic Research Laboratories (A.A.v.d.K., J.M.K., E.H., S.O., I.S.F.), Wellcome Trust-Medical Research Council (MRC) Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom; MRC Cognition and Brain Sciences Unit (E.A.H.v.d.H., A.D.L., A.J.C.), Cambridge CB2 7EF, United Kingdom; and School of Psychology (A.D.L.), Cardiff University, Cardiff CF10 3XQ, United Kingdom.

    Papers in Europe PMC
  9. 09
    van Rossum EFC7 papers · 2026

    Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.

    Papers in Europe PMC
  10. 10
    Wabitsch M7 papers · 2026

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

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

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

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 melanocortin 4 receptor 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 melanocortin 4 receptor deficiency" OR "MC4R deficiency") OR ("MC4R" OR "MC4R syndrome" OR "MC4R-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Obesity due to melanocortin 4 receptor deficiency" OR "MC4R 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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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

Ingested 2026-07-27T01:43:07.841Z