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ORPHA:562

McCune-Albright syndrome

medium confidenceDisorder

Publications

13,496

96.8th percentile

Trials

9

Interventional, condition-specific

Researchers

966

Distinct authors in sample

Gene link

GNAS

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare mosaic syndrome characterized by the combination of two or more of the following: fibrous of bone (FD), hyperpigmented macules, and hyperfunctioning endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, endogenous Cushing syndrome).

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

Albright's disease · MAS · McCune Albright Syndrome · McCune Albright syndrome · gonadotropin-independent female-limited sexual precocity · mccune-albright syndrome, somatic, mosaic

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — GNAS

  2. LiteraturePresent

    13,496 matched papers (9,311 in last 10 years) Source

  3. Phenotype characterisedPresent

    74 HPO annotations (e.g. Ovarian cyst; Precocious puberty; Macroorchidism) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    9 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 (GNAS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

74

Associated phenotypes · MONDO:0018919

  • Ovarian cyst
  • Precocious puberty
  • Macroorchidism
  • Pancreatitis
  • Nasal congestion

Showing 5 of 74 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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

3

Drugs / clinical candidates · MONDO_0018919

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

13,496

13,496 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.

13,496 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).

9,311 in the last 10 years · medium confidence · 96.8th percentile (publications denominator)

Phrase hits: 2,994 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

966

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
    Boyce AM7 papers · 2026

    Metabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  2. 02
    Upadhyay J6 papers · 2026

    Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

    Papers in Europe PMC
  3. 03
    Appelman-Dijkstra NM5 papers · 2026

    Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

    Papers in Europe PMC
  4. 04
    Berry C5 papers · 2026

    Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  5. 05
    Chapurlat R5 papers · 2026

    French Reference Center for Fibrous Dysplasia, Rheumatology Department, Hospital E.Herriot, Hospices Civils de Lyon, University of Lyon 1, Lyon, France.

    Papers in Europe PMC
  6. 06
    Javaid MK5 papers · 2026

    Botnar Research Centre, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK. kassim.javaid@ndorms.ox.ac.uk.

    Papers in Europe PMC
  7. 07
    Mannstadt M5 papers · 2026

    Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

    Papers in Europe PMC
  8. 08
    Peacock ZS5 papers · 2026

    Department of Oral & Maxillofacial Surgery, Massachusetts General Hospital, Harvard School of Dental Medicine, Boston, MA 02114, USA.

    Papers in Europe PMC
  9. 09
    Li X4 papers · 2026

    Biostatistics and Clinical Epidemiology Service, NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  10. 10
    Barlier A3 papers · 2026

    Aix Marseille Univ, Assistance Publique-Hôpitaux De Marseille (APHM), Institut national de la santé et de la recherche médicale (INSERM), Marseille Medical Genetics (MMG), La Timone Hospital, Laboratory of Molecular Biology GEnOPe, Biogenopole, Marseille, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

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

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

medium confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

9 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

10 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.

Recruiting or not-yet-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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-29

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 (3)

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 McCune-Albright 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.

("McCune-Albright syndrome" OR "Albright's disease" OR "McCune Albright Syndrome" OR "gonadotropin-independent female-limited sexual precocity" OR "mccune-albright syndrome, somatic, mosaic") OR ("GNAS" OR "GNAS syndrome" OR "GNAS-related")

Run this search on Europe PMC

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

"McCune-Albright syndrome" OR "Albright's disease" OR "McCune Albright Syndrome" OR "gonadotropin-independent female-limited sexual precocity" OR "mccune-albright syndrome, somatic, mosaic"

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: 9 interventional · 10 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

Synonyms dropped by stoplist: MAS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:21:08.767Z