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myopia 23, autosomal recessive (MYP23) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopia 23, autosomal recessive

MONDO:0014183

Also known as:MYP23

Overview

GeneticsAutosomal recessive · LRPAP1 (chr 4)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Reduced visual acuity, Visual impairment, High myopia, and Increased axial length of the globe.

Organ System	Phenotype Count	Example Features
Eyes	1	Visual impairment

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.

LRPAP1 encodes LDL receptor related protein associated protein 1 (357 aa). Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway Highest expression in Artery Aorta (59.7 TPM) and Pituitary (54.0 TPM).

Myopia 23, autosomal recessive is associated with mutations in the LRPAP1 gene on chromosome 4.

LRPAP1 is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 0.0.

Diagnosis

Genetic testing for LRPAP1 is available. Testing is considered confirmatory for diagnosis.

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 myopia 23, autosomal recessive.

2 publications have been identified in PubMed for myopia 23, autosomal recessive. Research spans Basic Science / Preclinical (50%) and Gene Therapy / Novel Therapeutics (50%).

Recent Publications

Han C (2026). [PMID: 41742148](https://pubmed.ncbi.nlm.nih.gov/41742148/). *BMC Med Genomics*. [Gene Therapy / Novel Therapeutics]
Li C (2024). [PMID: 39206744](https://pubmed.ncbi.nlm.nih.gov/39206744/). *Ophthalmic Genet*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615431

GARD

Genetic and Rare Diseases Info Center

GARD:18198

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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myopia 23, autosomal recessive

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team