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spermatogenic failure 27 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 27

MONDO:0054731

Also known as:SPGF27

Overview

GeneticsAutosomal recessive · AK7 (chr 14)

ResearchLimited published research (5 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: Coiled sperm flagella, Male infertility, Reduced sperm motility, and Absent sperm axoneme central pair complex 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.

AK7 encodes adenylate kinase 7 (723 aa). Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Highest expression in Testis (7.7 TPM) and Skin Sun Exposed Lower leg (4.9 TPM).

Spermatogenic failure 27 is associated with mutations in the AK7 gene on chromosome 14.

AK7 is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

Diagnosis

Genetic testing for AK7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 27 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 spermatogenic failure 27.

5 publications have been identified in PubMed for spermatogenic failure 27. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Diagnostic / Biomarker (20%).

Recent Publications

de Oliveira SA (2026). [PMID: 41596343](https://pubmed.ncbi.nlm.nih.gov/41596343/). *Int J Mol Sci*. [Basic Science / Preclinical]
Ruan J (2026). [PMID: 41596239](https://pubmed.ncbi.nlm.nih.gov/41596239/). *Int J Mol Sci*. [Basic Science / Preclinical]
Kandy RRK (2025). [PMID: 40558499](https://pubmed.ncbi.nlm.nih.gov/40558499/). *Cells*. [Review / Meta-Analysis]
Yao W (2025). [PMID: 40376536](https://pubmed.ncbi.nlm.nih.gov/40376536/). *Transl Androl Urol*. [Diagnostic / Biomarker]
Wang X (2025). [PMID: 41339899](https://pubmed.ncbi.nlm.nih.gov/41339899/). *Reprod Biol Endocrinol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617965

GARD

Genetic and Rare Diseases Info Center

GARD:18405

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 27

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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