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microphthalmia, isolated, with coloboma 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microphthalmia, isolated, with coloboma 5

MONDO:0012709

Also known as:SHH microphthalmia, isolated, with colobomamicrophthalmia with coloboma 5microphthalmia, isolated, with coloboma caused by mutation in SHH

Overview

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.

GeneticsAutosomal dominant · SHH (chr 7)

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 very common findings: Iris coloboma and Microphthalmia; and common findings: Abnormality of vision. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Abnormality of vision
Head and neck

Genetic Landscape

SHH function has not been fully characterized.

Microphthalmia, isolated, with coloboma 5 is associated with mutations in the SHH gene on chromosome 7.

Diagnosis

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

Biomarker and diagnostic research for microphthalmia, isolated, with coloboma 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 1 common 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 microphthalmia, isolated, with coloboma 5.

19 publications have been identified in PubMed for microphthalmia, isolated, with coloboma 5. Research spans Case Report / Case Series (37%), Basic Science / Preclinical (32%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	7	37%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611638

GARD

Genetic and Rare Diseases Info Center

GARD:15524

Questions for Your Care Team

→Should I pursue genetic testing for SHH, 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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microphthalmia, isolated, with coloboma 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

microphthalmia, isolated, with coloboma 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications