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spermatogenic failure 2 (SPGF2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 2

MONDO:0007161

Also known as:SPGF2Aspermiogenesis Factor

Overview

GeneticsAutosomal recessive · MSH4 (chr 1)

Clinical Presentation

Features include always present findings: Male infertility and Non-obstructive azoospermia. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

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.

MSH4 encodes mutS homolog 4 (936 aa). Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis Highest expression in Testis (6.4 TPM) and Brain Cerebellum (2.5 TPM).

Spermatogenic failure 2 is associated with mutations in the MSH4 gene on chromosome 1.

The MSH4 protein participates in Resolution of meiotic holliday junction, Formation of meiotic holliday junction, and Meiotic recombination pathways.

MSH4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MSH4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 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 spermatogenic failure 2.

41 publications have been identified in PubMed for spermatogenic failure 2. Research spans Basic Science / Preclinical (59%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Laboratory research	24	59%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:108420

GARD

Genetic and Rare Diseases Info Center

GARD:15041

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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spermatogenic failure 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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