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spermatogenic failure 34 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 34

MONDO:0029148

Also known as:SPGF34

Overview

GeneticsAutosomal recessive · FSIP2 (chr 2)

ResearchLimited published research (9 articles)

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: Irregularly shaped sperm tail, Coiled sperm flagella, Male infertility, and Reduced sperm motility and others.

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.

FSIP2 encodes fibrous sheath interacting protein 2 (6,907 aa). Plays a role in spermatogenesis Highest expression in Testis (12.8 TPM) and Colon Transverse (1.7 TPM).

Spermatogenic failure 34 is associated with mutations in the FSIP2 gene on chromosome 2.

FSIP2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FSIP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 34 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 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 34.

9 publications have been identified in PubMed for spermatogenic failure 34. Research spans Diagnostic / Biomarker (22%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (22%).

Recent Publications

Caroppo E (2026). [PMID: 40220323](https://pubmed.ncbi.nlm.nih.gov/40220323/). *Andrology*. [Case Report / Case Series]
Gao Y (2026). [PMID: 40847540](https://pubmed.ncbi.nlm.nih.gov/40847540/). *Hum Reprod Update*. [Review / Meta-Analysis]
Oud MS (2025). [PMID: 39180390](https://pubmed.ncbi.nlm.nih.gov/39180390/). *Andrology*. [Diagnostic / Biomarker]
Wang X (2025). [PMID: 41339899](https://pubmed.ncbi.nlm.nih.gov/41339899/). *Reprod Biol Endocrinol*. [Review / Meta-Analysis]
Yao W (2025). [PMID: 40376536](https://pubmed.ncbi.nlm.nih.gov/40376536/). *Transl Androl Urol*. [Diagnostic / Biomarker]
Liu L (2025). [PMID: 41033661](https://pubmed.ncbi.nlm.nih.gov/41033661/). *Hum Reprod*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618153

GARD

Genetic and Rare Diseases Info Center

GARD:18407

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 34

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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