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premature ovarian failure 22 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 22

MONDO:0957822

Overview

GeneticsAutosomal recessive · KASH5 (chr 19)

OnsetADULT

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, Female infertility, and Elevated circulating follicle stimulating hormone level and others.

Organ System	Phenotype Count	Example Features
Hormones	2	Secondary amenorrhea, Female infertility

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.

KASH5 encodes KASH domain containing 5 (562 aa). As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. Highest expression in Testis (114.0 TPM) and Brain Cerebellum (18.9 TPM).

Premature ovarian failure 22 is associated with mutations in the KASH5 gene on chromosome 19.

KASH5 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KASH5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 22 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 22.

60 publications have been identified in PubMed for premature ovarian failure 22. Research spans Epidemiology / Natural History (27%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (23%).

Research Type	Count	% of Total
Disease patterns and progression	16	27%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620548

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 22

Overview

Clinical Presentation

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Diagnosis

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Research Landscape

Medical References

External Resources

OMIM

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premature ovarian failure 22

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