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microphthalmia, isolated, with coloboma 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microphthalmia, isolated, with coloboma 7

MONDO:0013783

Also known as:ABCB6 microphthalmia, isolated, with colobomamicrophthalmia, isolated, with coloboma caused by mutation in ABCB6microphthalmia, isolated, with coloboma type 7

Overview

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.

GeneticsAutosomal dominant · ABCB6 (chr 2)

ResearchLimited published research (5 articles)

Clinical Presentation

Features include always present findings: Iris coloboma and Inferior chorioretinal coloboma; and sometimes findings: Microphthalmia.

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.

ABCB6 encodes ATP binding cassette subfamily B member 6 (LAN blood group) (842 aa). ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen. Highest expression in Testis (101.0 TPM) and Ovary (98.5 TPM).

Microphthalmia, isolated, with coloboma 7 has limited evidence linking it to mutations in the ABCB6 gene on chromosome 2.

The ABCB6 protein participates in Defective ABCB6 causes MCOPCB7, ABCB6 transports porphyrin from cytosol to mitchondrial matrix, and Defective ABCB6 does not transport porphyrin from cytosol into mitochondria matrix pathways.

ABCB6 is classified as a druggable target (Abc Transporter, Druggable Genome, and Transporter categories) with score 0.0.

16 pathogenic variants reported in ABCB6 in ClinVar, including hotspot variants 1284646 and 68473.

Diagnosis

Genetic testing for ABCB6 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present 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 microphthalmia, isolated, with coloboma 7.

5 publications have been identified in PubMed for microphthalmia, isolated, with coloboma 7. Research spans Review / Meta-Analysis (60%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Recent Publications

Merepa SS (2025). [PMID: 40301690](https://pubmed.ncbi.nlm.nih.gov/40301690/). *European journal of human genetics : EJHG*. [Basic Science / Preclinical]
Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Italian journal of pediatrics*. [Review / Meta-Analysis]
Shiels A (2024). [PMID: 38927721](https://pubmed.ncbi.nlm.nih.gov/38927721/). *Genes*. [Review / Meta-Analysis]
Laasri K (2024). [PMID: 39280748](https://pubmed.ncbi.nlm.nih.gov/39280748/). *Radiology case reports*. [Case Report / Case Series]
Mahmoud A (2024). [PMID: 38350011](https://pubmed.ncbi.nlm.nih.gov/38350011/). *Ocular immunology and inflammation*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614497

GARD

Genetic and Rare Diseases Info Center

GARD:15811

Questions for Your Care Team

→Should I pursue genetic testing for ABCB6, 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 7

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team