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premature ovarian failure 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 9

MONDO:0014322

Also known as:HFM1 primary ovarian failurepremature ovarian failure type 9primary ovarian failure caused by mutation in HFM1

Overview

Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.

GeneticsAutosomal recessive · HFM1 (chr 1)

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, Elevated circulating luteinizing hormone level, Amenorrhea, and Elevated circulating follicle stimulating hormone level and others.

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.

HFM1 encodes helicase for meiosis 1 (1,435 aa). Required for crossover formation and complete synapsis of homologous chromosomes during meiosis Highest expression in Pituitary (17.6 TPM) and Testis (17.2 TPM).

Premature ovarian failure 9 is associated with mutations in the HFM1 gene on chromosome 1.

HFM1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for HFM1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 9.

112 publications have been identified in PubMed for premature ovarian failure 9. Research spans Epidemiology / Natural History (40%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Disease patterns and progression	45	40%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615724

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 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

premature ovarian failure 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications