ORPHA:251912
Pineocytoma
Publications
898
81.2th percentile
Trials
7
Interventional, condition-specific
Researchers
1,229
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016723
- UMLS:C0917890
- NCIT:C6966
Additional Mondo synonyms (6)
Pineocytoma (WHO grade I) · benign pinealoma · pinealocytoma · pineocytoma · pineocytoma (disease) · pineocytoma, benign
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 identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
898 matched papers (414 in last 10 years) Source
- Phenotype characterisedPresent
13 HPO annotations (e.g. Headache; Abnormal eyelid morphology; Hearing abnormality) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
7 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
13
Associated phenotypes · MONDO:0016723
- Headache
- Abnormal eyelid morphology
- Hearing abnormality
- Nausea and vomiting
- Memory impairment
Showing 5 of 13 — 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
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
898
898 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
898 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).
414 in the last 10 years · medium confidence · 81.2th percentile (publications denominator)
Phrase hits: 898 · MeSH hits: 0
Who's working on it?
1,229
Distinct author names in 200 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.
- 01Vasiljevic A5 papers · 2026
Service de pathologie et de neuropathologie, centre de biologie et pathologie Est, groupement hospitalier Est, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron, France; Inserm U1028, CNRS UMR5292, équipe neuro-oncologie et neuro-inflammation, centre de recherche en neurosciences de Lyon, 69372 Lyon, France.
Papers in Europe PMC - 02Mathieu D3 papers · 2024
Division of Neurosurgery, Department of Surgery, Université de Sherbrooke, Centre de Recherche du Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Québec, Canada. Electronic address: david.mathieu@usherbrooke.ca.
Papers in Europe PMC - 03Mottolese C3 papers · 2022
Service of Paediatric Neurosurgery, U 501, Hôpital Neurologique de Lyon « Pierre-Wertheimer », Lyon, France. Electronic address: carmine.mottolese@chu-lyon.fr.
Papers in Europe PMC - 04Pfaff E3 papers · 2025
Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Papers in Europe PMC - 05Pfister SM3 papers · 2025
Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
Papers in Europe PMC - 06
- 07Ahmetgjekaj I2 papers · 2022
Department of Radiology, University Clinical Center of Kosovo, Pristina, Kosovo.
Papers in Europe PMC - 08Britz G2 papers · 2024
Department of Neurological Surgery, Houston Methodist Hospital, Houston, Texas, USA.
Papers in Europe PMC - 09Bruce JN2 papers · 2023
Department of Neurosurgery, Columbia University Irving Medical Center, New York, United States.
Papers in Europe PMC - 10Chudy D2 papers · 2025
Departments of Neurosurgery, University Hospital Dubrava, Zagreb, Croatia.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
7
interventional trials for this specific condition
7 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 11 September 2026
7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).
medium confidence · 90.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
7 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06357377·NOT YET RECRUITING·A Study of the Safety, Dosing, and Delivery of NEO100 in Patients With Pediatric Brain Tumors
Not reviewed·Conditions: Pediatric Tumor of CNS · Pediatric Tumor of Brain · Diffuse Midline Glioma, H3 K27M-Mutant · Pediatric Tumor of Brain Stem·Matched via name phrase
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 2026-07-30
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 Pineocytoma — check Associations / patient organisations on that page.
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.
"Pineocytoma" OR "Pineocytoma (WHO grade I)" OR "benign pinealoma" OR "pinealocytoma" OR "pineocytoma (disease)" OR "pineocytoma, benign"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pineocytoma" OR "Pineocytoma (WHO grade I)" OR "benign pinealoma" OR "pinealocytoma" OR "pineocytoma (disease)" OR "pineocytoma, benign"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 7 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
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:54:46.503Z