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cataract 11 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 11 multiple types

MONDO:0012527

Also known as:CTRCT11PITX3 early-onset non-syndromic cataractcataract 11, syndromic, autosomal recessive

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.

GeneticsAutosomal recessive, Autosomal dominant · PITX3 (chr 10)

OnsetCONGENITAL

ResearchLimited published research (5 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: Developmental cataract. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Cataract, Blindness, Developmental cataract
Brain and nerves

Genetic Landscape

PITX3 function has not been fully characterized.

Cataract 11 multiple types is associated with mutations in the PITX3 gene on chromosome 10.

Diagnosis

Genetic testing for PITX3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 cataract 11 multiple types.

5 publications have been identified in PubMed for cataract 11 multiple types. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (20%).

Recent Publications

Pawar N (2026). [PMID: 41703929](https://pubmed.ncbi.nlm.nih.gov/41703929/). *Ophthalmic Genet*. [Case Report / Case Series]
Roberts JP (2025). [PMID: 40061310](https://pubmed.ncbi.nlm.nih.gov/40061310/). *medRxiv*. [Epidemiology / Natural History]
Melnik E (2025). [PMID: 40289369](https://pubmed.ncbi.nlm.nih.gov/40289369/). *Clin Genet*. [Case Report / Case Series]
Silva MC (2024). [PMID: 39584717](https://pubmed.ncbi.nlm.nih.gov/39584717/). *A A Pract*. [Case Report / Case Series]
Shiels A (2024). [PMID: 38927721](https://pubmed.ncbi.nlm.nih.gov/38927721/). *Genes (Basel)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610623

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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cataract 11 multiple types

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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