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optic atrophy 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

optic atrophy 15

MONDO:0957935

Overview

GeneticsAutosomal recessive · MCAT (chr 22)

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 always present findings: Nystagmus, Photophobia, Reduced visual acuity, and Dyschromatopsia and others.

Organ System	Phenotype Count	Example Features
Eyes	3	Nystagmus, Damage to the optic nerve (optic atrophy), Optic disc pallor

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.

MCAT encodes malonyl-CoA-acyl carrier protein transacylase (390 aa). Catalyzes the transfer of a malonyl moiety from malonyl-CoA to the free thiol group of the phosphopantetheine arm of the mitochondrial ACP protein (NDUFAB1). Highest expression in Testis (24.3 TPM) and Adrenal Gland (18.1 TPM).

Optic atrophy 15 has limited evidence linking it to mutations in the MCAT gene on chromosome 22.

The MCAT protein participates in MCAT transfers Mal from Mal-CoA to NDUFAB1 pathway.

MCAT is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for optic atrophy 15 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 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 optic atrophy 15.

160 publications have been identified in PubMed for optic atrophy 15. Research spans Case Report / Case Series (23%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (23%).

Research Type	Count	% of Total
Patient case studies	31	23%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620583

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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Kisho

optic atrophy 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

optic atrophy 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications