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congenital stationary night blindness 1H - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital stationary night blindness 1H

MONDO:0014872

Also known as:CSNB1HGNB3 congenital stationary night blindnesscongenital stationary night blindness caused by mutation in GNB3

Overview

Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.

GeneticsAutosomal recessive · GNB3 (chr 12)

OnsetCHILDHOOD

ResearchLimited published research (1 article)

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 common findings: Nyctalopia, Hypermetropia, and Photophobia; and sometimes findings: Mild myopia. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Nystagmus

Age of onset: childhood.

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.

GNB3 encodes G protein subunit beta 3 (340 aa). Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. Highest expression in Pituitary (84.8 TPM) and Brain Cerebellum (62.6 TPM).

Congenital stationary night blindness 1H is associated with mutations in the GNB3 gene on chromosome 12.

The GNB3 protein participates in Partially folded GNB3, G-protein beta 1-4 subunit, and Partially folded G-protein beta 1-4 pathways.

GNB3 is classified as a druggable target with score 4.4.

Diagnosis

Genetic testing for GNB3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 common 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 congenital stationary night blindness 1H.

1 publication has been identified in PubMed for congenital stationary night blindness 1H. Research spans Basic Science / Preclinical (100%).

Recent Publications

Hu H (2024). [PMID: 39055259](https://pubmed.ncbi.nlm.nih.gov/39055259/). *Front Genet*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617024

GARD

Genetic and Rare Diseases Info Center

GARD:16177

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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congenital stationary night blindness 1H

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