ORPHA:71529
Obesity due to melanocortin 4 receptor deficiency
Also known as: MC4R deficiency
Publications
415
82.9th percentile
Trials
8
Interventional, condition-specific
Researchers
1,125
Distinct authors in sample
Gene link
MC4R
Strong
Readiness
3/6
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).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019115
- UMLS:C4273958
- NCIT:C120394
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 — MC4R
- LiteraturePresent
415 matched papers (267 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
8 matched on ClinicalTrials.gov (2 recruiting in sample)
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)
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?
415
415 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.
415 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).
267 in the last 10 years · high confidence · 82.9th percentile (publications denominator)
Phrase hits: 415 · MeSH hits: 0
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.
- 01Farooqi 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 - 02Henning 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 - 03Keogh 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 - 04do Carmo JM8 papers · 2024
Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi.
Papers in Europe PMC - 05O'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 - 06van 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 - 07Hall 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 - 08van 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 - 09van Rossum EFC7 papers · 2026
Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.
Papers in Europe PMC - 10Wabitsch 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?
8
interventional trials for this specific condition
8 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).
high confidence · 90.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
8 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06239116·RECRUITING·A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment
Conditions: Hypothalamic Obesity · Prader-Willi Syndrome · PWS·Matched via recall expansion
- NCT07674290·RECRUITING·Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic Obesity
Conditions: Bardet Biedl Syndrome (BBS) · Bardet Biedl Syndrome · Bardet-Biedl Syndrome (BBS) · Alstrom Syndrome·Matched via recall expansion
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 melanocortin 4 receptor deficiency" OR "MC4R deficiency"
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" OR "MC4R"
Recall-expansion terms: MC4R
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: 8 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, 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
Ingested 2026-07-27T01:43:07.841Z