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ORPHA:2762

Progressive osseous heteroplasia

low confidenceDisorder

Also known as: Familial ectopic ossification · POH

Publications

11,683

Trials

0

Interventional, condition-specific

Researchers

983

Distinct authors in sample

Gene link

GNAS

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and nature of the heterotopic bone formation.

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)

familial ectopic ossification · poh

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — GNAS

  2. LiteraturePresent

    11,683 matched papers (8,544 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Osteoma cutis; Limb undergrowth; Ankylosis) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

16

Associated phenotypes · MONDO:0008153

  • Osteoma cutis
  • Limb undergrowth
  • Ankylosis
  • Ectopic ossification in muscle tissue
  • Hypermelanotic macule

Showing 5 of 16 — 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?

11,683

11,683 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.

11,683 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).

8,544 in the last 10 years · low confidence

Phrase hits: 450 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

983

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Mantovani G11 papers · 2025

    Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Elli FM10 papers · 2024

    Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  3. 03
    Shore EM10 papers · 2023

    Department of Orthopaedic Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Center for Research in FOP and Related Disorders, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address: shore@pennmedicine.upenn.edu.

    Papers in Europe PMC
  4. 04
    Pereda A9 papers · 2024

    Molecular (Epi)Genetics LaboratoryBioAraba National Health Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Spain.

    Papers in Europe PMC
  5. 05
    Linglart A7 papers · 2025

    INSERM-U1185, Paris Sud Paris-Saclay University, Bicêtre Paris Sud Hospital, 64 Gabriel Péri Street, 94270 Le Kremlin Bicêtre, France; APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Network OSCAR and 'Platform of Expertise Paris Sud for Rare Diseases, Bicêtre Paris Sud Hospital, 64 Gabriel Péri Street, 94270 Le Kremlin Bicêtre, France; APHP, Endocrinology and Diabetes for Children, Bicêtre Paris Sud Hospital, 64 Gabriel Péri Street, 94270 Le Kremlin Bicêtre, France. Electronic address: agnes.linglart@aphp.fr.

    Papers in Europe PMC
  6. 06
    Jüppner H6 papers · 2024

    Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, 50 Blossom street, Boston, MA 02114, USA; Pediatric Nephrology Unit, Massachusetts General Hospital, Harvard Medical School, 50 Blossom street, Boston, MA 02114, USA.

    Papers in Europe PMC
  7. 07
    Kaplan FS6 papers · 2023

    Department of Orthopaedic Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Center for Research in FOP and Related Disorders, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

    Papers in Europe PMC
  8. 08
    Perez de Nanclares G6 papers · 2024

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (F.M.E., E.V., P.B., G.M.), Department of Clinical Sciences and Community Health, University of Milan, Endocrinology and Diabetology Unit, Milan, Italy; APHP (A.L., V.G., P.H.), Reference Center for Rare Disorders of the Mineral Metabolism and Plateforme d'expertise Paris Sud Maladies Rares, Le Kremlin Bicêtre, France; INSERM U1169 (A.L., V.G., P.H.), Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, France; Molecular (Epi)Genetics Laboratory (I.G., A.P., G.P.d.N.), BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain; Department of Public Health and Pediatrics (L.d.S., F.G.), University of Turin, Regina Margherita Children's Hospital, Health and Science City, Turin, Italy; Department of Biochemistry and Molecular Biology (A.P.), University of Basque Country, Leioa, Spain.

    Papers in Europe PMC
  9. 09
    Yang Y6 papers · 2025

    Department of Pediatric Endocrinology, Genetics and Metabolism, Guiyang Maternal and Child Health Care Hospital, Guiyang Children's Hospital, Guiyang, China.

    Papers in Europe PMC
  10. 10
    Levine MA5 papers · 2025

    Division of Endocrinology and Diabetes, Center for Bone Health, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA; Department of Pediatrics, University of Pennsylvania Perelman, School of Medicine, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-29

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).

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 Progressive osseous heteroplasia — 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.

("Progressive osseous heteroplasia" OR "Familial ectopic ossification") 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):

"Progressive osseous heteroplasia" OR "Familial ectopic ossification"

Study-type breakdown: 0 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

Synonyms dropped by stoplist: POH

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
  • Publication count (11683) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T21:05:59.359Z