ORPHA:73
Gorham-Stout disease
Also known as: Gorham disease · Gorham syndrome · Idiopathic massive osteolysis · Progressive massive osteolysis · Vanishing bone disease
Publications
810
Trials
1
Interventional, condition-specific
Researchers
1,028
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.
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:0007414
- OMIM:123880
- UMLS:C0029438
Additional Mondo synonyms (3)
idiopathic massive osteolysis · progressive massive osteolysis · vanishing bone disease
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
810 matched papers (536 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
1 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)
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?
810
810 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=5449) is 41.
810 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).
536 in the last 10 years · low confidence
Phrase hits: 810 · MeSH hits: 0
Who's working on it?
1,028
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.
- 01Del Fattore A6 papers · 2026
Bone Physiopathology Research Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 02Zhang Y6 papers · 2025
Department of Radiology, Beijing Shijitan Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 03Rossi M5 papers · 2026
Bone Physiopathology Research Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 04Devine WP4 papers · 2025
Department of Pathology, University of California San Francisco, San Francisco, California, USA.
Papers in Europe PMC - 05Hur S4 papers · 2025
Department of Radiology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Papers in Europe PMC - 06Lee S4 papers · 2025
Department of Interventional Radiology, Children's Hospital Los Angeles, Los Angeles, California.
Papers in Europe PMC - 07Liu J4 papers · 2025
Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , ,
Papers in Europe PMC - 08Bartuli A3 papers · 2024
Rare Diseases and Medical Genetic Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 09Buonuomo PS3 papers · 2024
Rare Diseases and Medical Genetic Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 10Jenkner A3 papers · 2024
Division of Immunology and Infectious Diseases, Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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.
Observational and natural-history studies
2 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
- NCT02399527·RECRUITING·Lymphatic Anomalies Registry for the Assessment of Outcome Data
Conditions: Lymphatic Malformation · Generalized Lymphatic Anomaly (GLA) · Central Conducting Lymphatic Anomaly · CLOVES Syndrome·Matched via name phrase
- NCT03001180·RECRUITING·Identification of Biomarkers for Patients with Vascular Anomalies
Conditions: Vascular Anomaly · Generalized Lymphatic Anomaly · Kaposiform Hemangioendothelioma · Kaposiform Lymphangiomatosis·Matched via name phrase
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.
"Gorham-Stout disease" OR "Gorham disease" OR "Gorham syndrome" OR "Idiopathic massive osteolysis" OR "Progressive massive osteolysis" OR "Vanishing bone disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Gorham-Stout disease" OR "Gorham disease" OR "Gorham syndrome" OR "Idiopathic massive osteolysis" OR "Progressive massive osteolysis" OR "Vanishing bone disease"
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: 1 interventional · 2 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (810) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T12:18:49.971Z