ORPHA:494526
Infantile-onset generalized dyskinesia with orofacial involvement
Also known as: Infantile-onset orofacial-trunk-limbs dyskinesia
Publications
5
17.7th percentile
Trials
3
Interventional, condition-specific
Researchers
37
Distinct authors in sample
Gene link
PDE10A
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare hyperkinetic movement disorder characterized by delayed motor development and onset of axial and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.
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:0044637
- OMIM:616921
- UMLS:C5567464
Additional Mondo synonyms (3)
IOLOD · dyskinesia, limb and orofacial, infantile-onset · infantile-onset orofacial-trunk-limbs dyskinesia
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 — PDE10A
- LiteraturePresent
5 matched papers (4 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
3 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?
Yes — we know a specific gene responsible (PDE10A).
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?
5
5 papers have ever been indexed 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.
5 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).
4 in the last 10 years · high confidence · 17.7th percentile (publications denominator)
Phrase hits: 5 · MeSH hits: 0
Who's working on it?
37
Distinct author names in 5 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.
- 01Alesi V1 paper · 2024
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146, Rome, Italy.
Papers in Europe PMC - 02Astrea G1 paper · 2024
Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56125, Pisa, Italy.
Papers in Europe PMC - 03Battini R1 paper · 2024
Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56125, Pisa, Italy.
Papers in Europe PMC - 04Calacci C1 paper · 2024
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146, Rome, Italy.
Papers in Europe PMC - 05Cui Q1 paper · 2023
People's Hospital of Ningxia Hui Autonomous Region (Ningxia Medical University), Ningxia Eye Hospital, Yinchuan, 750001, China.
Papers in Europe PMC - 06Dentici ML1 paper · 2024
Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146, Rome, Italy.
Papers in Europe PMC - 07Di Tommaso S1 paper · 2024
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146, Rome, Italy.
Papers in Europe PMC - 08Faggiano MV1 paper · 2024
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146, Rome, Italy.
Papers in Europe PMC - 09Galvis V1 paper · 2015
Centro Oftalmológico Virgilio Galvis, Floridablanca, Colombia; Fundación Oftalmológica de Santander FOSCAL, Floridablanca, Colombia; Universidad Autónoma de Bucaramanga (UNAB), Bucaramanga, Colombia.
Papers in Europe PMC - 10Genovese S1 paper · 2024
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146, Rome, Italy. silvia.genovese@opbg.net.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
high confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 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.
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.
"Infantile-onset generalized dyskinesia with orofacial involvement" OR "Infantile-onset orofacial-trunk-limbs dyskinesia" OR "IOLOD" OR "dyskinesia, limb and orofacial, infantile-onset"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Infantile-onset generalized dyskinesia with orofacial involvement" OR "Infantile-onset orofacial-trunk-limbs dyskinesia" OR "IOLOD" OR "dyskinesia, limb and orofacial, infantile-onset" OR "PDE10A"
Recall-expansion terms: PDE10A
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: 3 interventional · 0 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
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 2026-07-27T17:32:42.879Z