ORPHA:2762
Progressive osseous heteroplasia
Also known as: Familial ectopic ossification · POH
Publications
450
83.9th percentile
Trials
0
Interventional, condition-specific
Researchers
983
Distinct authors in sample
Gene link
GNAS
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008153
- MeSH:C562735
- OMIM:166350
- UMLS:C0334041
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.”
2/6 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.
- Gene identifiedPresent
Definitive — GNAS
- LiteraturePresent
450 matched papers (281 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 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)
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?
450
450 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.
450 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).
281 in the last 10 years · medium confidence · 83.9th percentile (publications denominator)
Phrase hits: 450 · MeSH hits: 0
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.
- 01Mantovani G11 papers · 2025
Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 02Elli FM10 papers · 2024
Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 03Shore 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 - 04Pereda A9 papers · 2024
Molecular (Epi)Genetics LaboratoryBioAraba National Health Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Spain.
Papers in Europe PMC - 05Linglart 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 - 06Jüppner 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 - 07Kaplan 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 - 08Perez 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 - 09Yang 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 - 10Levine 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
Observational and natural-history studies
1 observational study matches 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.
None of the matched observational studies is currently listed as recruiting.
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.
"Progressive osseous heteroplasia" OR "Familial ectopic ossification"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Progressive osseous heteroplasia" OR "Familial ectopic ossification" OR "GNAS"
Recall-expansion terms: GNAS
Study-type breakdown: 0 interventional · 1 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
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
Ingested 2026-07-26T21:05:59.359Z