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oculogastrointestinal-neurodevelopmental syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculogastrointestinal-neurodevelopmental syndrome

MONDO:0036189

Also known as:OGIN Syndrome

Overview

GeneticsAutosomal recessive · CAPN15 (chr 16)

ResearchLimited published research (3 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 very common findings: Coloboma; and common findings: Anal atresia, Global developmental delay, Autistic behavior, and Simple ear. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Global developmental delay, Dysphonia, Autistic behavior

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.

CAPN15 encodes calpain 15 (1,086 aa). Highest expression in Brain Cerebellum (51.4 TPM) and Brain Cerebellar Hemisphere (42.2 TPM).

Oculogastrointestinal-neurodevelopmental syndrome is associated with mutations in the CAPN15 gene on chromosome 16.

CAPN15 is classified as a druggable target (Druggable Genome, Protease, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for CAPN15 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 4 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 oculogastrointestinal-neurodevelopmental syndrome.

3 publications have been identified in PubMed for oculogastrointestinal-neurodevelopmental syndrome. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Noguchi A (2026). [PMID: 41380969](https://pubmed.ncbi.nlm.nih.gov/41380969/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Lin E (2025). [PMID: 40485323](https://pubmed.ncbi.nlm.nih.gov/40485323/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Zucco J (2024). [PMID: 38459225](https://pubmed.ncbi.nlm.nih.gov/38459225/). *Journal of human genetics*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:20 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619318

Orphanet

European rare disease database

Orphanet:611201

GARD

Genetic and Rare Diseases Info Center

GARD:18024

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?

← Back to All Diseases

Kisho

oculogastrointestinal-neurodevelopmental syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

oculogastrointestinal-neurodevelopmental syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.