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cataract 13 with adult I phenotype - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 13 with adult I phenotype

MONDO:0007289

Also known as:CTRCT13

Overview

A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.

GeneticsAutosomal recessive · GCNT2 (chr 6)

Clinical Presentation

Features include: Developmental cataract.

Organ System	Phenotype Count	Example Features
Eyes	1	Developmental cataract

Explore clinical features

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.

GCNT2 encodes glucosaminyl (N-acetyl) transferase 2 (I blood group) (402 aa). Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. Highest expression in Prostate (9.8 TPM) and Stomach (7.9 TPM).

Cataract 13 with adult I phenotype is associated with mutations in the GCNT2 gene on chromosome 6.

GCNT2 is classified as a druggable target (Enzyme category) with score 5.2.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for GCNT2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cataract 13 with adult I phenotype has been reported in the published literature.

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 13 with adult I phenotype.

25 publications have been identified in PubMed for cataract 13 with adult I phenotype. Research spans Case Report / Case Series (24%), Epidemiology / Natural History (20%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	6	24%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:116700

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 13 with adult I phenotype

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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