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cataract 38 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 38

MONDO:0013859

Also known as:AGK early-onset non-syndromic cataractCATC5CTRCT38

Overview

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

GeneticsAutosomal recessive · AGK (chr 7)

OnsetCONGENITAL

Clinical Presentation

Features include always present findings: Developmental cataract.

Organ System	Phenotype Count	Example Features
Eyes	1	Developmental cataract

Age of onset: at birth.

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.

AGK encodes acylglycerol kinase (422 aa). Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Highest expression in Brain Cerebellar Hemisphere (35.3 TPM) and Brain Cerebellum (32.0 TPM).

Cataract 38 is associated with mutations in the AGK gene on chromosome 7.

The AGK protein participates in AGK(1-33)InsW-p-BRAF(328-766) fusion and AGK(1-33)InsW-BRAF(328-766) fusion pathways.

AGK is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for cataract 38 has been reported in the published literature.

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 38.

215 publications have been identified in PubMed for cataract 38. Kisho has analyzed 101 by research type. Research spans Epidemiology / Natural History (35%), Clinical Trial Publication (29%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Disease patterns and progression	35	35%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614691

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 38

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

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