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

Rare Disease

premature ovarian failure 2A

MONDO:0010350

Also known as:DIAPH2 primary ovarian failurepremature ovarian failure 2A, X-linked dominantpremature ovarian failure type 2A

Overview

Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.

GeneticsX-linked · DIAPH2 (chr X)

ResearchLimited published research (4 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, Secondary amenorrhea, Elevated circulating luteinizing hormone level, and Elevated circulating follicle stimulating hormone level.

Organ System	Phenotype Count	Example Features
Lab test results	2	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level

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.

DIAPH2 encodes diaphanous related formin 2 (1,101 aa). Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Highest expression in Artery Tibial (21.7 TPM) and Artery Coronary (19.1 TPM).

Premature ovarian failure 2A is associated with mutations in the DIAPH2 gene on chromosome X.

The DIAPH2 protein participates in CDC42:GTP recruits DIAPH2-2 to kinetochores and Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2 pathways.

DIAPH2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DIAPH2 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 2A.

4 publications have been identified in PubMed for premature ovarian failure 2A. Research spans Basic Science / Preclinical (100%).

Recent Publications

Xu Y (2025). [PMID: 41282539](https://pubmed.ncbi.nlm.nih.gov/41282539/). *Biochemistry and biophysics reports*. [Basic Science / Preclinical]
Wu J (2025). [PMID: 40745333](https://pubmed.ncbi.nlm.nih.gov/40745333/). *Journal of ovarian research*. [Basic Science / Preclinical]
Chen WJ (2024). [PMID: 39543104](https://pubmed.ncbi.nlm.nih.gov/39543104/). *Cell death discovery*. [Basic Science / Preclinical]
Lin Y (2024). [PMID: 39377984](https://pubmed.ncbi.nlm.nih.gov/39377984/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300511

Questions for Your Care Team

→Should female family members consider carrier screening for DIAPH2?
→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 2A

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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