ORPHA:459033
Ataxia-oculomotor apraxia type 4
Also known as: AOA4
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
8
24.9th percentile
Trials
0
Interventional, condition-specific
Researchers
55
Distinct authors in sample
Gene link
PNKP
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare cerebellar characterized by onset of dystonia and other extrapyramidal signs, , oculomotor apraxia, and sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.
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:0014557
- OMIM:616267
- UMLS:C4225397
Additional Mondo synonyms (3)
PNKP oculomotor apraxia or related oculomotor disease · ataxia - oculomotor apraxia type 4 · oculomotor apraxia or related oculomotor disease caused by mutation in PNKP
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — PNKP
- LiteraturePresent
8 matched papers (8 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?
Yes — we know a specific gene responsible (PNKP).
GenCC classification: Definitive.
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?
8
8 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.
8 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).
8 in the last 10 years · medium confidence · 24.9th percentile (publications denominator)
Phrase hits: 8 · MeSH hits: 0
Who's working on it?
55
Distinct author names in 8 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.
- 01Abou Jamra R1 paper · 2022
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Papers in Europe PMC - 02Almadani N1 paper · 2021
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran.
Papers in Europe PMC - 03Auber B1 paper · 2018
Department of Human Genetics, Hannover Medical School, Hanover, Germany.
Papers in Europe PMC - 04Balint B1 paper · 2018
Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology, Queen Square London WC1N3BG UK.
Papers in Europe PMC - 05Bartolomaeus T1 paper · 2022
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Papers in Europe PMC - 06Bermúdez-Guzmán L1 paper · 2022
Section of Genetics and Biotechnology, School of Biology, University de Costa Rica, San José, Costa Rica.
Papers in Europe PMC - 07Bhatia KP1 paper · 2018
Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology, Queen Square London WC1N3BG UK.
Papers in Europe PMC - 08Bitarafan F1 paper · 2021
Department of Cellular and Molecular Biology, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Papers in Europe PMC - 09Döring J1 paper · 2022
Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany.
Papers in Europe PMC - 10El-Hattab AW1 paper · 2017
d Division of Clinical Genetics and Metabolic Disorders , Tawam Hospital , Al-Ain , United Arab Emirates.
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.
"Ataxia-oculomotor apraxia type 4" OR "PNKP oculomotor apraxia or related oculomotor disease" OR "ataxia - oculomotor apraxia type 4"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ataxia-oculomotor apraxia type 4" OR "PNKP oculomotor apraxia or related oculomotor disease" OR "ataxia - oculomotor apraxia type 4" OR "PNKP"
Recall-expansion terms: PNKP
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AOA4; oculomotor apraxia or related oculomotor disease caused by mutation in PNKP
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 2026-07-27T16:53:11.707Z