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ORPHA:1429

Benign hereditary chorea

medium confidenceDisorder

Also known as: BHC · Benign familial chorea

Publications

301

61.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,076

Distinct authors in sample

Gene link

—

Readiness

2/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    301 matched papers (134 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Gait disturbance; Seizure; Dementia) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

17

Associated phenotypes · MONDO:0001595

  • Gait disturbance
  • Seizure
  • Dementia
  • Abnormal pyramidal sign
  • Progressive choreoathetosis

Showing 5 of 17 — 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

3

Drugs / clinical candidates · MONDO_0001595

CTD chemicals (MyDisease.info)

83 associated chemicals · 18 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Acrylonitrile · therapeutic
  • Benztropine · therapeutic
  • besonprodil · therapeutic
  • Biperiden · therapeutic
  • Chlorpromazine · therapeutic
  • Clozapine · therapeutic
  • Diazepam · therapeutic
  • Famotidine · therapeutic
  • Haloperidol · therapeutic
  • Levetiracetam · therapeutic
  • Magnesium Chloride · therapeutic
  • Methylphenidate · therapeutic

Pathways: MAPK signaling pathway; Cardiac muscle contraction; Adrenergic signaling in cardiomyocytes; Oxytocin signaling pathway; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC); Dilated cardiomyopathy; Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels

MyDisease.info · MONDO:0001595

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=3967) is 59.

301 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).

134 in the last 10 years · medium confidence · 61.5th percentile (publications denominator)

Phrase hits: 301 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Bhatia KP10 papers · 2026

    Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology, Queen Square London WC1N3BG UK.

    Papers in Europe PMC
  2. 02
    Lang 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
  3. 03
    Saft C6 papers · 2023

    Department of Neurology, St. Josef Hospital, Ruhr-University, Bochum, Germany.

    Papers in Europe PMC
  4. 04
    Carecchio M5 papers · 2026

    Molecular Neurogenetics Unit, IRCCS Foundation Carlo Besta Neurological Institute, Via L. Temolo 4, 20126, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Kurian MA5 papers · 2026

    Molecular Neurosciences, Developmental Neurosciences Program, Institute of Child Health, University College London, London, United Kingdom.

    Papers in Europe PMC
  6. 06
    Roze E5 papers · 2026

    Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France.

    Papers in Europe PMC
  7. 07
    Veneziano L5 papers · 2022

    Institute of Translational Pharmacology, National Research Council, Via Fosso del Cavaliere 100, 00133, Rome, Italy.

    Papers in Europe PMC
  8. 08
    Balint B4 papers · 2020

    Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology, Queen Square London WC1N3BG UK.

    Papers in Europe PMC
  9. 09
    Burgunder 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
  10. 10
    Doummar 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 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.

medium 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 Benign hereditary chorea — 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.

"Benign hereditary chorea" OR "Benign familial chorea"

Run this search on Europe PMC

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