ORPHA:1429
Benign hereditary chorea
Also known as: BHC · Benign familial chorea
Publications
301
71.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,076
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, movement disorder characterized by early-onset, very slowly choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include , often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.
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:0001595
- MeSH:D002819
- UMLS:C0008489
- NCIT:C84633
Additional Mondo synonyms (1)
benign familial chorea
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
301 matched papers (134 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?
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?
301
301 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.
301 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).
134 in the last 10 years · medium confidence · 71.5th percentile (publications denominator)
Phrase hits: 301 · MeSH hits: 0
Who's working on it?
1,076
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.
- 01Bhatia KP10 papers · 2026
Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology, Queen Square London WC1N3BG UK.
Papers in Europe PMC - 02Lang AE6 papers · 2021
Department of Medicine, Division of Neurology, Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital University of Toronto Toronto Ontario Canada.
Papers in Europe PMC - 03Saft C6 papers · 2023
Department of Neurology, St. Josef Hospital, Ruhr-University, Bochum, Germany.
Papers in Europe PMC - 04Carecchio M5 papers · 2026
Molecular Neurogenetics Unit, IRCCS Foundation Carlo Besta Neurological Institute, Via L. Temolo 4, 20126, Milan, Italy.
Papers in Europe PMC - 05Kurian MA5 papers · 2026
Molecular Neurosciences, Developmental Neurosciences Program, Institute of Child Health, University College London, London, United Kingdom.
Papers in Europe PMC - 06Roze E5 papers · 2026
Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France.
Papers in Europe PMC - 07Veneziano L5 papers · 2022
Institute of Translational Pharmacology, National Research Council, Via Fosso del Cavaliere 100, 00133, Rome, Italy.
Papers in Europe PMC - 08Balint B4 papers · 2020
Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology, Queen Square London WC1N3BG UK.
Papers in Europe PMC - 09Burgunder JM4 papers · 2023
Swiss Huntington's Disease Centre, Department of Neurology, University of Bern, Neurobu Clinics, Steinerstrasse 45, CH 3006 Bern, Switzerland.
Papers in Europe PMC - 10Doummar D4 papers · 2026
Department of Pediatric Neurology, Hôpital Armand-Trousseau, Paris, France.
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 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.
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.
"Benign hereditary chorea" OR "Benign familial chorea"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Benign hereditary chorea" OR "Benign familial chorea"
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: BHC
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 2026-07-26T17:18:44.165Z