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premature ovarian failure 19 (POF19) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 19

MONDO:0030985

Also known as:POF19

Overview

GeneticsAutosomal recessive · HSF2BP (chr 21)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include always present findings: Premature ovarian insufficiency, Secondary amenorrhea, Irregular menstruation, and Female infertility.

Organ System	Phenotype Count	Example Features
Hormones	2	Secondary amenorrhea, Female infertility

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.

HSF2BP encodes heat shock transcription factor 2 binding protein (334 aa). Meiotic recombination factor component of recombination bridges involved in meiotic double-strand break repair. Highest expression in Testis (36.4 TPM) and Nerve Tibial (1.1 TPM).

Premature ovarian failure 19 is associated with mutations in the HSF2BP gene on chromosome 21.

HSF2BP is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for HSF2BP is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 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 premature ovarian failure 19.

2 publications have been identified in PubMed for premature ovarian failure 19. Research spans Review / Meta-Analysis (100%).

Recent Publications

Wang X (2026). [PMID: 41555377](https://pubmed.ncbi.nlm.nih.gov/41555377/). *Reproductive biology and endocrinology : RB&E*. [Review / Meta-Analysis]
Nie L (2024). [PMID: 39095891](https://pubmed.ncbi.nlm.nih.gov/39095891/). *Reproductive biology and endocrinology : RB&E*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619245

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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premature ovarian failure 19

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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