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nanophthalmos 1 (NNO1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nanophthalmos 1

MONDO:0010836

Also known as:NNO1Nanophthalmia 1microphthalmos, simple, autosomal dominant

Overview

GeneticsAutosomal dominant · MYRF (chr 11)

ResearchLimited published research (6 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: Bilateral microphthalmos.

GeneReviews

Clinical Guidance

To date, more than 60 individuals with MYRF-related cardiac urogenital syndrome (MYRF-CUGS) (more than 20 unpublished, and at least 47 published plus an extremely large multiplex family) have been identified with a pathogenic variant in MYRF [; ; ; ; ; ; ; ; ; ; ; ; ; T Pyle, unpublished data]. The following description of the phenotypic features associated with MYRF-CUGS is based on these reports. Table 2. MYRF-Related Cardiac Urogenital Syndrome: Frequency of Select 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.

MYRF encodes myelin regulatory factor (1,151 aa). Constitutes a precursor of the transcription factor. Highest expression in Brain Spinal cord cervical c-1 (204.5 TPM) and Stomach (124.4 TPM).

Nanophthalmos 1 is associated with mutations in the MYRF gene on chromosome 11.

MYRF is classified as a druggable target (Protease and Transcription Factor categories) with score 5.8.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for MYRF-related cardiac urogenital syndrome (MYRF-CUGS) have been published.

Suggestive Findings

MYRF-CUGS should be suspected in individuals with any of the following clinical and imaging findings and family history.

Clinical findings

Source: GeneReviews — "MYRF-Related Cardiac Urogenital Syndrome"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for nanophthalmos 1. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for MYRF-related cardiac urogenital syndrome (MYRF-CUGS) have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with MYRF-CUGS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with MYRF-Related Cardiac Urogenital Syndrome

System/Concern

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 1.

6 publications have been identified in PubMed for nanophthalmos 1. Research spans Epidemiology / Natural History (50%), Basic Science / Preclinical (33%), and Case Report / Case Series (17%).

Recent Publications

Dayno A (2026). [PMID: 41347118](https://pubmed.ncbi.nlm.nih.gov/41347118/). *JCEM Case Rep*. [Case Report / Case Series]
Rozumek GM (2026). [PMID: 41746734](https://pubmed.ncbi.nlm.nih.gov/41746734/). *JCI Insight*. [Basic Science / Preclinical]
Yu X (2025). [PMID: 40459495](https://pubmed.ncbi.nlm.nih.gov/40459495/). *Invest Ophthalmol Vis Sci*. [Epidemiology / Natural History]
Tao J (2025). [PMID: 39569896](https://pubmed.ncbi.nlm.nih.gov/39569896/). *Clin Exp Ophthalmol*. [Epidemiology / Natural History]
Yu X (2024). [PMID: 38901241](https://pubmed.ncbi.nlm.nih.gov/38901241/). *Int Immunopharmacol*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600165

GARD

Genetic and Rare Diseases Info Center

GARD:18625

Questions for Your Care Team

→Should I pursue genetic testing for MYRF, 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?

← Back to All Diseases

Feature	% of Personsw/Feature1	Comment
Genital anomalies (internal /or external)	80%-89%	Genital anomalies can be present in both 46,XX 46,XY persons.
Eye anomalies	84%	High hyperopia or nanophthalmos are predominant .
Developmental delay/ intellectual disability	15/20 (75%)	When present, can range from mild speech delay only to ID (lowest reported IQ: 63).2
Congenital heart defects	68%-90%	—
Congenital diaphragmatic hernia (CDH)	31%-59%	Some affected persons have diaphragmatic eventration. CDH is more prevalent in prenatally ascertained persons.
Primary pulmonary hypoplasia	10/33 (30%)	Of 33 persons who did NOT have CDH, 10 had pulmonary hypoplasia.
Renal anomalies	4/17 (24%)	—
Splenic anomalies	6 reported persons	—
Gastrointestinal issue	Rare3	5 w/intestinal malrotation CDH = congenital diaphragmatic hernia; ID = intellectual disability; IQ = intelligence quotient The frequency of features is dependent upon whether the affected individual was ascertained prenatally or postnatally.

GeneReviews

Differential Diagnosis

Table 3. Genes of Interest in the Differential Diagnosis of MYRF-Related Cardiac Urogenital Syndrome

Gene(s)	Disorder	MOI	Key Features	Distinguishing Features/ Comment
FAM111A	Kenny-Caffey syndrome type 2 (KCS2) (See FAM111A-Related Skeletal Dysplasias.)	AD	Nanophthalmos, short stature, hypocalcemia, thickening medullary cortical bone	KCS2 is assoc w/macrocephaly low birth weight.1
GATA4	Testicular anomalies ± congenital heart disease (TACHD) (OMIM 615542)	AD	CHD, GU anomalies incl ambiguous genitalia	CDH, ocular, pulmonary anomalies are not reported in TACHD.2
MFRP	MFRP-related nanophthalmos (OMIM 609549)	AR	Nanophthalmos, retinal degeneration	Syndromic features are not reported in MFRP-related nanophthalmos.3
NR2F2	46,XX sex reversal (SRXX5) (OMIM 618901)	AD	46,XX ambiguous genitalia or sex reversal, mllerian anomalies, HLHS, CDH (1 person)	SRXX5 is assoc w/ambiguous (nonbinary) genitalia in 46,XX persons (vs 46,XY persons in CUGS) eyelid anomalies; hyperopia is not reported.4
PIGL	PIGL-related disorder5	AR	CDH, ambiguous genitalia (1 family)	PIGL-related disorder is assoc w/coloboma, vermian hypoplasia, cleft palate.5
PRSS56	PRSS56-related nanophthalmos6	AR	Nanophthalmos, posterior microphthalmos	Syndromic features are not reported in PRDD56-related nanophthalmos.6
RLIM	Tonne-Kalscheuer syndrome (TOKAS) (OMIM 300978)	XL	DD, microcephaly, CHD, CDH, GU anomalies (cryptorchidism, hypospadias, micropenis)	TOKAS is assoc w/hypertelorism, a long, narrow face, micrognathia.7
SPECC1L	Teebi hypertelorism syndrome 1 (TBHS1) (OMIM 145420)	AD	Hypertelorism, CDH, CHD, mllerian anomalies	In TBHS1, CDH is rare, pulmonary hypoplasia is only reported as secondary to CDH or omphalocele, hypertelorism is a prominent feature, CHD are limited to ASD/VSD.8
TMEM98	TMEM98-related nanophthalmos (OMIM 615972)	AD	Nanophthalmos	Syndromic features have not been reported in TMEM98-related nanophthalmos.9
WT1	Meacham syndrome (See WT1 Disorder.)	AD	CDH, pulmonary dysplasia, complex CHD, GU abnormalities incl ambiguous genitalia gonadal dysgenesis	A person w/clinical diagnosis of Meacham syndrome was later found to have MYRF-CUGS.

Source: GeneReviews — "MYRF-Related Cardiac Urogenital Syndrome"

Kisho

nanophthalmos 1

Overview

Clinical Presentation

Clinical Guidance

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Guidance

Differential Diagnosis

Genitourinary

Endocrine

Development

Cardiovascular

Respiratory

Clinical Guidance

Therapies Under Investigation

Clinical Trials

nanophthalmos 1

Overview

Clinical Presentation

Clinical Guidance

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Guidance

Differential Diagnosis

Genitourinary

Endocrine

Development

Cardiovascular

Respiratory

Clinical Guidance

Therapies Under Investigation

Clinical Trials