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male infertility with teratozoospermia due to single gene mutation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

male infertility with teratozoospermia due to single gene mutation

MONDO:0018394

Overview

A rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.

ResearchLimited published research (1 article)

Clinical Presentation

Features include very common findings: Phenotypic abnormality, Increased circulating gonadotropin level, Abnormal spermatogenesis, and Decreased testicular size and others.

Explore clinical features

Prognosis

Phenotype severity distribution: 8 very common 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 male infertility with teratozoospermia due to single gene mutation.

1 publication has been identified in PubMed for male infertility with teratozoospermia due to single gene mutation. Research spans Review / Meta-Analysis (100%).

Recent Publications

Wang X (2025). [PMID: 41339899](https://pubmed.ncbi.nlm.nih.gov/41339899/). *Reproductive biology and endocrinology : RB&E*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:399808

GARD

Genetic and Rare Diseases Info Center

GARD:17654

Questions for Your Care Team

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male infertility with teratozoospermia due to single gene mutation

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team