Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

nanophthalmos 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nanophthalmos 2

MONDO:0012299

Also known as:MFRP nanophthalmiananophthalmia caused by mutation in MFRPnanophthalmos type 2

Overview

Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.

GeneticsAutosomal recessive · MFRP (chr 11)

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 always present findings: High hypermetropia, Microphthalmia, and Reduced visual acuity; and sometimes findings: Retinal detachment and Angle closure glaucoma. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Retinal detachment, Abnormality of corneal size, Angle closure glaucoma

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.

MFRP encodes membrane frizzled-related protein (579 aa). May play a role in eye development Highest expression in Brain Hippocampus (0.1 TPM) and Brain Spinal cord cervical c-1 (0.1 TPM).

Nanophthalmos 2 is associated with mutations in the MFRP gene on chromosome 11.

MFRP is classified as a druggable target with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 3 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 nanophthalmos 2.

9 publications have been identified in PubMed for nanophthalmos 2. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (22%).

Recent Publications

Rajendrababu S (2026). [PMID: 42186044](https://pubmed.ncbi.nlm.nih.gov/42186044/). *BMC Ophthalmol*. [Epidemiology / Natural History]
Wang J (2026). [PMID: 41770736](https://pubmed.ncbi.nlm.nih.gov/41770736/). *PLoS One*. [Basic Science / Preclinical]
Yu X (2025). [PMID: 40459495](https://pubmed.ncbi.nlm.nih.gov/40459495/). *Invest Ophthalmol Vis Sci*. [Epidemiology / Natural History]
Tian Y (2025). [PMID: 41032847](https://pubmed.ncbi.nlm.nih.gov/41032847/). *Ocul Immunol Inflamm*. [Case Report / Case Series]
Gogna N (2025). [PMID: 40154727](https://pubmed.ncbi.nlm.nih.gov/40154727/). *Exp Eye Res*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:27 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609549

GARD

Genetic and Rare Diseases Info Center

GARD:18626

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?

← Back to All Diseases

nanophthalmos 2

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