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premature ovarian failure 16 (POF16) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 16

MONDO:0032881

Also known as:POF16

Overview

GeneticsAutosomal dominant · BNC1 (chr 15)

Clinical Presentation

Features include always present findings: Reduced antral follicle count. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	1	Elevated circulating follicle stimulating hormone level

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.

BNC1 encodes basonuclin zinc finger protein 1 (994 aa). Transcriptional activator. It is likely involved in the regulation of keratinocytes terminal differentiation in squamous epithelia and hair follicles. Required for the maintenance of spermatogenesis. Highest expression in Testis (34.2 TPM) and Cells Cultured fibroblasts (21.5 TPM).

Premature ovarian failure 16 is associated with mutations in the BNC1 gene on chromosome 15.

BNC1 is classified as a druggable target with score 26.1.

Diagnosis

Genetic testing for BNC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 16 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present 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 premature ovarian failure 16.

89 publications have been identified in PubMed for premature ovarian failure 16. Research spans Epidemiology / Natural History (29%), Basic Science / Preclinical (28%), and Review / Meta-Analysis (22%).

Research Type	Count	% of Total
Disease patterns and progression	26	29%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:18 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618723

GARD

Genetic and Rare Diseases Info Center

GARD:18044

Questions for Your Care Team

→Should I pursue genetic testing for BNC1, 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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premature ovarian failure 16

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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