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

juvenile cataract-microcornea-renal glucosuria syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

juvenile cataract-microcornea-renal glucosuria syndrome

MONDO:0012786

Also known as:cataract 47, juvenile, with microcorneaCJMGCTRCT47

Overview

Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.

GeneticsAutosomal dominant · SLC16A12 (chr 10)

OnsetJUVENILE

Clinical Presentation

Features include common findings: Cataract, Microcornea, and Glycosuria.

Organ System	Phenotype Count	Example Features
Eyes	1	Cataract

Age of onset: adolescence.

Explore clinical features

Genetic Landscape

SLC16A12 function has not been fully characterized.

Juvenile cataract-microcornea-renal glucosuria syndrome is associated with mutations in the SLC16A12 gene on chromosome 10.

Diagnosis

Genetic testing for SLC16A12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for juvenile cataract-microcornea-renal glucosuria syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 juvenile cataract-microcornea-renal glucosuria syndrome.

102 publications have been identified in PubMed for juvenile cataract-microcornea-renal glucosuria syndrome. Research spans Epidemiology / Natural History (34%), Clinical Trial Publication (29%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Disease patterns and progression	32	34%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612018

Orphanet

European rare disease database

Orphanet:247794

GARD

Genetic and Rare Diseases Info Center

GARD:17196

Questions for Your Care Team

→Should I pursue genetic testing for SLC16A12, 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

juvenile cataract-microcornea-renal glucosuria syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications