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premature ovarian failure 2B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 2B

MONDO:0010373

Also known as:POF1B primary ovarian failurepremature ovarian failure 2B, X-linked recessivepremature ovarian failure type 2B

Overview

Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene.

GeneticsX-linked · POF1B (chr X)

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: Premature ovarian insufficiency, Female infertility, and Primary amenorrhea; and common findings: Weak and brittle bones (osteoporosis) and Abnormality of the dentition. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	3	Female infertility, Delayed puberty, Primary amenorrhea

Genetic Landscape

POF1B function has not been fully characterized.

Premature ovarian failure 2B is associated with mutations in the POF1B gene on chromosome X.

Diagnosis

Genetic testing for POF1B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 2 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 premature ovarian failure 2B.

7 publications have been identified in PubMed for premature ovarian failure 2B. Research spans Basic Science / Preclinical (71%), Case Report / Case Series (14%), and Clinical Trial Publication (14%).

Recent Publications

Xu Y (2025). [PMID: 41282539](https://pubmed.ncbi.nlm.nih.gov/41282539/). *Biochemistry and biophysics reports*. [Basic Science / Preclinical]
Ghatak S (2024). [PMID: 38773714](https://pubmed.ncbi.nlm.nih.gov/38773714/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Clinical Trial Publication]
Chen WJ (2024). [PMID: 39543104](https://pubmed.ncbi.nlm.nih.gov/39543104/). *Cell death discovery*. [Basic Science / Preclinical]
Zhang C (2024). [PMID: 39882072](https://pubmed.ncbi.nlm.nih.gov/39882072/). *Frontiers in genetics*. [Basic Science / Preclinical]
Bonati MT (2024). [PMID: 38927613](https://pubmed.ncbi.nlm.nih.gov/38927613/). *Genes*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300604

Questions for Your Care Team

→Should female family members consider carrier screening for POF1B?
→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 2B

Overview

Clinical Presentation

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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