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premature ovarian failure 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 5

MONDO:0012689

Also known as:NOBOX primary ovarian failurepremature ovarian failure type 5primary ovarian failure caused by mutation in NOBOX

Overview

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

GeneticsAutosomal dominant · NOBOX (chr 7)

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; and common findings: Secondary amenorrhea and Hypoplasia of the ovary. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	2	Secondary amenorrhea, Primary amenorrhea

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.

NOBOX encodes NOBOX oogenesis homeobox (691 aa). Transcription factor which may play a role in oogenesis. Binds preferentially to the DNA sequences 5'-TAATTG-3', 5'-TAGTTG-3' and 5'-TAATTA-3'

Premature ovarian failure 5 is associated with mutations in the NOBOX gene on chromosome 7.

NOBOX is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for premature ovarian failure 5 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 5.

181 publications have been identified in PubMed for premature ovarian failure 5. Research spans Epidemiology / Natural History (29%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (24%).

Research Type	Count	% of Total
Disease patterns and progression	52	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611548

Questions for Your Care Team

→Should I pursue genetic testing for NOBOX, 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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premature ovarian failure 5

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

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