ORPHA:1065
Aniridia-cerebellar ataxia-intellectual disability syndrome
Also known as: Gillespie syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
212
74.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,639
Distinct authors in sample
Gene link
ITPR1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic developmental and neurological disorder characterized by the association of partial bilateral aniridia (or iris hypoplasia), with non- cerebellar , , and .
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:0008795
- MeSH:C536370
- OMIM:206700
- UMLS:C0431401
Additional Mondo synonyms (6)
Aniridia Cerebellar Ataxia Mental Deficiency · GILLESPIE syndrome · GLSP · aniridia, cerebellar ataxia and mental deficiency · aniridia, cerebellar ataxia, and intellectual disability · aniridia, cerebellar ataxia, and mental retardation
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 — ITPR1
- LiteraturePresent
212 matched papers (158 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 (ITPR1).
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?
212
212 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.
212 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).
158 in the last 10 years · medium confidence · 74.7th percentile (publications denominator)
Phrase hits: 212 · MeSH hits: 0
Who's working on it?
1,639
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.
- 01Yule DI7 papers · 2026
Department of Pharmacology and Physiology, University of Rochester, Rochester, New York 14642.
Papers in Europe PMC - 02Bremond-Gignac D6 papers · 2026
Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France. Electronic address: dominique.bremond@aphp.fr.
Papers in Europe PMC - 03Terry LE6 papers · 2026
Department of Pharmacology and Physiology, University of Rochester, Rochester, New York 14642.
Papers in Europe PMC - 04Wang Y6 papers · 2025
Department of Molecular, Cellular and Developmental Biology, University of Michigan, 1105 North University Avenue, Ann Arbor, MI 48109-1085, USA.
Papers in Europe PMC - 05Chen L5 papers · 2025
Department of rehabilitation, Anhui Provincial Children's Hospital, No.39, Wangjiang Road, Baohe District, Hefei, 230051, China.
Papers in Europe PMC - 06Marsh JA5 papers · 2025
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Papers in Europe PMC - 07Bertini E4 papers · 2023
Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, 00146 Rome, Italy.
Papers in Europe PMC - 08Bultynck G4 papers · 2025
KU Leuven, Laboratory for Molecular and Cellular Signaling, Department of Cellular and Molecular Medicine, Leuven Kanker Instituut, Campus Gasthuisberg O/N-1 B-802, Herestraat 49, BE-3000 Leuven, Belgium. Electronic address: geert.bultynck@kuleuven.be.
Papers in Europe PMC - 09Daruich A4 papers · 2026
Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France.
Papers in Europe PMC - 10FitzPatrick DR4 papers · 2022
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
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.
"Aniridia-cerebellar ataxia-intellectual disability syndrome" OR "Gillespie syndrome" OR "Aniridia Cerebellar Ataxia Mental Deficiency" OR "aniridia, cerebellar ataxia and mental deficiency" OR "aniridia, cerebellar ataxia, and intellectual disability" OR "aniridia, cerebellar ataxia, and mental retardation"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Aniridia-cerebellar ataxia-intellectual disability syndrome" OR "Gillespie syndrome" OR "Aniridia Cerebellar Ataxia Mental Deficiency" OR "aniridia, cerebellar ataxia and mental deficiency" OR "aniridia, cerebellar ataxia, and intellectual disability" OR "aniridia, cerebellar ataxia, and mental retardation" OR "ITPR1"
Recall-expansion terms: ITPR1
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: GLSP
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 2026-07-26T16:19:00.792Z