ORPHA:93304
Autosomal dominant brachyolmia
Also known as: Brachyolmia type 3
Publications
93
55.8th percentile
Trials
2
Interventional, condition-specific
Researchers
637
Distinct authors in sample
Gene link
TRPV4
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.
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:0007232
- OMIM:113500
- UMLS:C0432227
Additional Mondo synonyms (2)
brachyolmia type 3 · brachyolmia, autosomal dominant
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.
- Gene identifiedPresent
Strong — TRPV4
- LiteraturePresent
93 matched papers (57 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
2 matched on ClinicalTrials.gov (1 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 (TRPV4).
GenCC classification: Strong.
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?
93
93 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.
93 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).
57 in the last 10 years · high confidence · 55.8th percentile (publications denominator)
Phrase hits: 93 · MeSH hits: 0
Who's working on it?
637
Distinct author names in 93 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.
- 01Cohn DH8 papers · 2017
Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, CA, Los Angeles, USA. dcohn@mcdb.ucla.edu.
Papers in Europe PMC - 02Krakow D7 papers · 2026
Department of Orthopaedic Surgery, David Geffen School of Medicine at the University of California Los Angeles, CA, Los Angeles, USA.
Papers in Europe PMC - 03Lachman RS4 papers · 2016
International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles.
Papers in Europe PMC - 04Nilius B4 papers · 2013
KU Leuven, Department of Cellular & Molecular Medicine, Laboratory of Ion Channel Research, Campus Gasthuisberg, Leuven, Belgium. bernd.nilius@med.kuleuven.be
Papers in Europe PMC - 05Rimoin DL4 papers · 2012Papers in Europe PMC
- 06Funari VA3 papers · 2012Papers in Europe PMC
- 07Kung C3 papers · 2013
Laboratory of Cell and Molecular Biology, University of Wisconsin - Madison; Department of Genetics, University of Wisconsin - Madison; ckung@wisc.edu.
Papers in Europe PMC - 08Mortier G3 papers · 2026
Center for Medical Genetics, Ghent University, Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, Edegem 2650, Belgium.
Papers in Europe PMC - 09Nishimura G3 papers · 2016
Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Papers in Europe PMC - 10Savarirayan R3 papers · 2012Papers 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; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th 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.
- NCT07095608·RECRUITING·Defining TRPV4 Contribution of Schwann Cells to Oral Cancer Pain
Conditions: Oral Cancer · Squamous Cell Carcinoma·Matched via recall expansion
Broader category: brachyolmia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
Recruiting or not-yet-recruiting
- NCT05600764·RECRUITING·The Natural History of TRPV4 Neuropathy
Conditions: TRPV4 Gene Mutation·Matched via recall expansion
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.
"Autosomal dominant brachyolmia" OR "Brachyolmia type 3" OR "brachyolmia, autosomal dominant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant brachyolmia" OR "Brachyolmia type 3" OR "brachyolmia, autosomal dominant" OR "TRPV4"
Recall-expansion terms: TRPV4
Interventional trials matched via: recall-expansion (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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"brachyolmia"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T04:13:43.459Z