Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

aniridia 3 (AN3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aniridia 3

MONDO:0014938

Also known as:AN3TRIM44 isolated aniridiaaniridia 3; AN3

Overview

Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.

GeneticsAutosomal dominant · TRIM44 (chr 11)

OnsetCONGENITAL

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: Reduced visual acuity and Aniridia; and common findings: Cataract. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Cataract, Nystagmus, Glaucoma

Age of onset: at birth.

Explore clinical features

Genetic Landscape

TRIM44 function has not been fully characterized.

Aniridia 3 has limited evidence linking it to mutations in the TRIM44 gene on chromosome 11.

Diagnosis

Genetic testing for TRIM44 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 common 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 aniridia 3.

70 publications have been identified in PubMed for aniridia 3. Research spans Basic Science / Preclinical (36%), Case Report / Case Series (20%), and Clinical Trial Publication (14%).

Research Type	Count	% of Total
Laboratory research	25	36%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617142

GARD

Genetic and Rare Diseases Info Center

GARD:16201

Questions for Your Care Team

→Should I pursue genetic testing for TRIM44, and what would the results mean for my family?
→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

aniridia 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications