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premature ovarian failure 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 6

MONDO:0012861

Also known as:FIGLA primary ovarian failurepremature ovarian failure type 6primary ovarian failure caused by mutation in FIGLA

Overview

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

GeneticsFIGLA (chr 2)

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: Female infertility; and common findings: Hypoplasia of the uterus and Streak ovary. 8 total HPO annotations.

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

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.

FIGLA encodes folliculogenesis specific bHLH transcription factor (219 aa). Germline specific transcription factor implicated in postnatal oocyte-specific gene expression. Highest expression in Testis (0.8 TPM) and Uterus (0.8 TPM).

Premature ovarian failure 6 is associated with mutations in the FIGLA gene on chromosome 2.

FIGLA is classified as a druggable target (Transcription Factor and Transcription Factor Complex categories) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for premature ovarian failure 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 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 6.

148 publications have been identified in PubMed for premature ovarian failure 6. Research spans Epidemiology / Natural History (39%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Disease patterns and progression	57	39%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612310

Questions for Your Care Team

→Should I pursue genetic testing for FIGLA, 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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Kisho

premature ovarian failure 6

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 6

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