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aniridia-cerebellar ataxia-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aniridia-cerebellar ataxia-intellectual disability syndrome

MONDO:0008795

Also known as:Aniridia Cerebellar Ataxia Mental DeficiencyGILLESPIE syndromeGLSP

Overview

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

GeneticsAutosomal recessive, Autosomal dominant · ITPR1 (chr 3)

OnsetCONGENITAL

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Poor head control, Inability to walk, Mild intellectual disability, and Moderate intellectual disability and others; and very common findings: Low muscle tone (hypotonia). 55 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	20	Inability to walk, Mild intellectual disability, Moderate intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ITPR1 encodes inositol 1,4,5-trisphosphate receptor type 1 (2,758 aa). Inositol 1,4,5-trisphosphate-gated calcium channel that, upon inositol 1,4,5-trisphosphate binding, mediates calcium release from the endoplasmic reticulum (ER). Highest expression in Artery Tibial (82.0 TPM) and Brain Cerebellum (76.2 TPM).

Aniridia-cerebellar ataxia-intellectual disability syndrome is caused by mutations in the ITPR1 gene on chromosome 3.

The ITPR1 protein participates in AHCYL1:NAD+:ITPR1:I(1,4,5)P3 tetramer and VDAC1,2,3 translocate calcium from the cytosol to the mitochondrial intermembrane space pathways.

ITPR1 is classified as a druggable target (Druggable Genome, Ion Channel, Kinase, and Transporter categories) with score 5.8.

Diagnosis

Genetic testing for ITPR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 38 always present features, 1 very common feature, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for aniridia-cerebellar ataxia-intellectual disability syndrome.

9 publications have been identified in PubMed for aniridia-cerebellar ataxia-intellectual disability syndrome. Research spans Review / Meta-Analysis (44%), Case Report / Case Series (44%), and Epidemiology / Natural History (11%).

Recent Publications

Terry LE (2026). [PMID: 41426050](https://pubmed.ncbi.nlm.nih.gov/41426050/). *Neurol Genet*. [Review / Meta-Analysis]
Lithoxopoulou M (2026). [PMID: 42111224](https://pubmed.ncbi.nlm.nih.gov/42111224/). *Mol Syndromol*. [Review / Meta-Analysis]
Gagrani M (2026). [PMID: 42220056](https://pubmed.ncbi.nlm.nih.gov/42220056/). *Ophthalmic Genet*. [Case Report / Case Series]
Hall J (2025). [PMID: 40138169](https://pubmed.ncbi.nlm.nih.gov/40138169/). *Ophthalmol Ther*. [Review / Meta-Analysis]
Obst J (2025). [PMID: 39755898](https://pubmed.ncbi.nlm.nih.gov/39755898/). *Ophthalmol Ther*. [Epidemiology / Natural History]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 3:17 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:206700

Orphanet

European rare disease database

Orphanet:1065

GARD

Genetic and Rare Diseases Info Center

GARD:13

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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aniridia-cerebellar ataxia-intellectual disability syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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