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nanophthalmos 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nanophthalmos 4

MONDO:0014426

Also known as:TMEM98 nanophthalmiananophthalmia caused by mutation in TMEM98nanophthalmos type 4

Overview

Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.

GeneticsAutosomal dominant · TMEM98 (chr 17)

OnsetCONGENITAL, MIDDLE_AGE

ResearchLimited published research (7 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: Hypermetropia, Microphthalmia, and Reduced visual acuity; and common findings: Angle closure glaucoma. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Optic disc drusen, Angle closure glaucoma

Age of onset: at birth, middle age.

Genetic Landscape

TMEM98 function has not been fully characterized.

Nanophthalmos 4 has limited evidence linking it to mutations in the TMEM98 gene on chromosome 17.

Diagnosis

Genetic testing for TMEM98 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

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 4.

7 publications have been identified in PubMed for nanophthalmos 4. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (29%), and Epidemiology / Natural History (29%).

Recent Publications

Rozumek GM (2026). [PMID: 41746734](https://pubmed.ncbi.nlm.nih.gov/41746734/). *JCI Insight*. [Basic Science / Preclinical]
Tian Y (2025). [PMID: 41032847](https://pubmed.ncbi.nlm.nih.gov/41032847/). *Ocular immunology and inflammation*. [Case Report / Case Series]
Gopalakrishnan S (2025). [PMID: 41367834](https://pubmed.ncbi.nlm.nih.gov/41367834/). *Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society*. [Epidemiology / Natural History]
Yu X (2025). [PMID: 40459495](https://pubmed.ncbi.nlm.nih.gov/40459495/). *Investigative ophthalmology & visual science*. [Epidemiology / Natural History]
Hatziagapiou K (2024). [PMID: 39797201](https://pubmed.ncbi.nlm.nih.gov/39797201/). *Journal of clinical medicine*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615972

GARD

Genetic and Rare Diseases Info Center

GARD:18629

Questions for Your Care Team

→Should I pursue genetic testing for TMEM98, 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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nanophthalmos 4

Overview

Clinical Presentation

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

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