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isolated microphthalmia 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated microphthalmia 8

MONDO:0014050

Also known as:ALDH1A3 isolated microphthalmiaMCOP8isolated microphthalmia caused by mutation in ALDH1A3

Overview

Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.

GeneticsAutosomal recessive · ALDH1A3 (chr 15)

ResearchLimited published research (9 articles)

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: Optic nerve hypoplasia, Retinal detachment, Retinal coloboma, and Anophthalmia and others.

Organ System	Phenotype Count	Example Features
Eyes	4	Optic nerve hypoplasia, Retinal detachment, Retinal coloboma

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.

ALDH1A3 encodes aldehyde dehydrogenase 1 family member A3 (512 aa). Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively. Highest expression in Prostate (63.7 TPM) and Minor Salivary Gland (61.3 TPM).

Isolated microphthalmia 8 is associated with mutations in the ALDH1A3 gene on chromosome 15.

The ALDH1A3 protein participates in ALDH1A3 tetramer, Mammary stem cell produces myoepithelial/basal progenitor, and Mammary hormone receptor negative luminal progenitor cell produces alveolar progenitor cell pathways.

ALDH1A3 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 2.5.

Diagnosis

Genetic testing for ALDH1A3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 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 8.

9 publications have been identified in PubMed for isolated microphthalmia 8. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (22%), and Gene Therapy / Novel Therapeutics (22%).

Recent Publications

Xie W (2025). [PMID: 40817209](https://pubmed.ncbi.nlm.nih.gov/40817209/). *BMC pregnancy and childbirth*. [Case Report / Case Series]
Arcot Sadagopan K (2025). [PMID: 40083070](https://pubmed.ncbi.nlm.nih.gov/40083070/). *Ophthalmic genetics*. [Case Report / Case Series]
Jiménez Cruz J (2025). [PMID: 40040326](https://pubmed.ncbi.nlm.nih.gov/40040326/). *Acta obstetricia et gynecologica Scandinavica*. [Basic Science / Preclinical]
Ni J (2025). [PMID: 40366612](https://pubmed.ncbi.nlm.nih.gov/40366612/). *Molecular and cellular biochemistry*. [Gene Therapy / Novel Therapeutics]
Choi BM (2025). [PMID: 39809510](https://pubmed.ncbi.nlm.nih.gov/39809510/). *Journal of microbiology and biotechnology*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 2:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615113

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 8

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team