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familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

MONDO:0014747

Also known as:retinal dystrophy and iris coloboma with or without cataractRDICCretinal dystrophy and iris coloboma with or without congenital cataract

Overview

GeneticsAutosomal dominant · MIR204 (chr 9)

OnsetCONGENITAL

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 common findings: Iris coloboma. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Developmental cataract, Retinal atrophy
Muscles

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.

MIR204 encodes microRNA 204. Highest expression in Adipose Subcutaneous (0.0 TPM) and Adipose Visceral Omentum (0.0 TPM).

Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome is associated with mutations in the MIR204 gene on chromosome 9.

MIR204 is classified as a druggable target with score 0.0.

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 MIR204 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 common feature.

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 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome.

189 publications have been identified in PubMed for familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome. Kisho has analyzed 83 by research type. Research spans Review / Meta-Analysis (33%), Epidemiology / Natural History (33%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Research summaries	27

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616722

Orphanet

European rare disease database

Orphanet:488197

GARD

Genetic and Rare Diseases Info Center

GARD:17888

Questions for Your Care Team

→Should I pursue genetic testing for MIR204, 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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Kisho

familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

Overview

Clinical Presentation

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

Explore clinical features

Recent Publications