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isolated microphthalmia 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated microphthalmia 4

MONDO:0013130

Also known as:GDF6 isolated microphthalmiaMCOP4isolated microphthalmia caused by mutation in GDF6

Overview

Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.

GeneticsAutosomal dominant · GDF6 (chr 8)

Clinical Presentation

Features include very common findings: Microphthalmia; and common findings: Postaxial polydactyly and Coloboma. 4 total HPO annotations.

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.

GDF6 encodes growth differentiation factor 6 (455 aa). Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Highest expression in Cells Cultured fibroblasts (2.7 TPM) and Uterus (2.6 TPM).

Isolated microphthalmia 4 is associated with mutations in the GDF6 gene on chromosome 8.

GDF6 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for GDF6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for isolated microphthalmia 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 2 common features.

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 isolated microphthalmia 4.

18 publications have been identified in PubMed for isolated microphthalmia 4. Research spans Basic Science / Preclinical (39%), Case Report / Case Series (28%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Laboratory research	7	39%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613094

Questions for Your Care Team

→Should I pursue genetic testing for GDF6, 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?

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isolated microphthalmia 4

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

Questions for Your Care Team

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