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ovarian dysgenesis 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ovarian dysgenesis 2

MONDO:0010349

Also known as:BMP15 primary ovarian failureovarian dysgenesis type 2primary ovarian failure caused by mutation in BMP15

Overview

Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.

GeneticsX-linked · BMP15 (chr X)

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: Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Delayed puberty, and Streak ovary and others. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	4	Hypergonadotropic hypogonadism, Secondary amenorrhea, Delayed puberty

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.

BMP15 encodes bone morphogenetic protein 15 (392 aa). May be involved in follicular development. Oocyte-specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth Highest expression in Testis (0.4 TPM) and Adipose Subcutaneous (0.0 TPM).

Ovarian dysgenesis 2 is associated with mutations in the BMP15 gene on chromosome X.

BMP15 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for BMP15 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ovarian dysgenesis 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 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 ovarian dysgenesis 2.

42 publications have been identified in PubMed for ovarian dysgenesis 2. Research spans Basic Science / Preclinical (33%), Review / Meta-Analysis (24%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Laboratory research	14	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300510

GARD

Genetic and Rare Diseases Info Center

GARD:18040

Questions for Your Care Team

→Should female family members consider carrier screening for BMP15?
→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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ovarian dysgenesis 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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