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

cataract 5 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 5 multiple types

MONDO:0007290

Also known as:CTRCT5HSF4 cataract (disease)cataract (disease) caused by mutation in HSF4

Overview

Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.

GeneticsAutosomal dominant · HSF4 (chr 16)

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: Nuclear cataract, Anterior polar cataract, Pulverulent cataract, and Lamellar cataract and 1 more.

Organ System	Phenotype Count	Example Features
Eyes	5	Nuclear cataract, Anterior polar cataract, Pulverulent 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.

HSF4 encodes heat shock transcription factor 4 (492 aa). Heat-shock transcription factor that specifically binds heat shock promoter elements (HSE). Highest expression in Brain Cerebellum (150.5 TPM) and Brain Cerebellar Hemisphere (137.8 TPM).

Cataract 5 multiple types is associated with mutations in the HSF4 gene on chromosome 16.

The HSF4 protein participates in Cellular response to heat stress pathway.

HSF4 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for HSF4 is available. Testing is considered confirmatory for diagnosis.

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 5 multiple types.

15 publications have been identified in PubMed for cataract 5 multiple types. Research spans Review / Meta-Analysis (33%), Clinical Trial Publication (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Research summaries	5	33%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:116800

Questions for Your Care Team

→Should I pursue genetic testing for HSF4, 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

cataract 5 multiple types

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications