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ORPHA:199244

Nelson syndrome

medium confidenceDisorder

Publications

911

65th percentile

Trials

2

Interventional, condition-specific

Researchers

978

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing's disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes insipidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Nelson's syndrome

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    911 matched papers (165 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Adrenocorticotropic hormone excess; Increased circulating cortisol level; Pituitary corticotropic cell adenoma) 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

    2 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

27

Associated phenotypes · MONDO:0016035

  • Adrenocorticotropic hormone excess
  • Increased circulating cortisol level
  • Pituitary corticotropic cell adenoma
  • Increased urinary cortisol level
  • Abnormal kinetic perimetry test

Showing 5 of 27 — 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)

2 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cyproheptadine · therapeutic
  • Adrenocorticotropic Hormone · marker/mechanism

MyDisease.info · MONDO:0016035

Literature

Is anyone studying this?

911

911 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

911 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).

165 in the last 10 years · medium confidence · 65th percentile (publications denominator)

Phrase hits: 911 · MeSH hits: 7

Open Europe PMC search

Who's working on it?

978

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
    Jeske W6 papers · 2006
    Papers in Europe PMC
  2. 02
    Bertagna X5 papers · 2024

    Service des maladies endocriniennes et métaboliques, centre de référence des maladies rares de la surrénale, faculté de médecine Paris-Descartes, université Paris, hôpital Cochin, France. xavier.bertagna@cch.aphp.fr

    Papers in Europe PMC
  3. 03
    Buchfelder M5 papers · 2021

    Universitätsklinikum Erlangen, Neurochirurgische Klinik, Erlangen, Germany.

    Papers in Europe PMC
  4. 04
    Karavitaki N5 papers · 2022

    Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham.

    Papers in Europe PMC
  5. 05
    Newell-Price J5 papers · 2021

    Dept of Oncology and Metabolism, The Medical School University of Sheffield, Sheffield, UK.

    Papers in Europe PMC
  6. 06
    Reincke M5 papers · 2022

    Medizinische Klinik und Poliklinik IVKlinikum der Ludwig-Maximilians-Universität München, Ziemssenstraße 1, D-80336 Munich, GermanyMax-Planck-Institut für PsychiatrieMunich, GermanyChirurgische Klinik und Poliklinik - InnenstadtKlinikum der Ludwig-Maximilians-Universität München, Munich, Germany Martin.Reincke@med.uni-muenchen.de.

    Papers in Europe PMC
  7. 07
    Vance ML5 papers · 2021

    Division of Endocrinology and Metabolism, Department of Medicine, University of Virginia Health System, Charlottesville, Virginia.

    Papers in Europe PMC
  8. 08
    Assié G4 papers · 2024

    Université René Descartes, Endocrinology, Cochin Hospital, Paris 5, France.

    Papers in Europe PMC
  9. 09
    Bertherat J4 papers · 2018

    Department of Endocrinology, Cochin Hospital, Assistance Publique Hôpitaux de Paris; Inserm Unité 1016, Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, Paris, France.

    Papers in Europe PMC
  10. 10
    Pivonello R4 papers · 2022

    Dipartimento Di Medicina Clinica E Chirurgia, Sezione Di Endocrinologia, Università Federico II Di Napoli, Naples, Italy. rosario.pivonello@unina.it.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

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

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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 (10)

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 Nelson syndrome — 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.

"Nelson syndrome" OR "Nelson's syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ridges-off-the-end syndrome; Nelson Syndrome

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

"Nelson syndrome" OR "Nelson's syndrome" OR "Ridges-off-the-end syndrome"

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

Study-type breakdown: 2 interventional · 0 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T09:08:53.103Z