male infertility with teratozoospermia due to single gene mutation
Findings
No curated finding names male infertility with teratozoospermia due to single gene mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018394), read 2026-09-29. CC BY 4.0.
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal sperm morphologyHPOHP:0012864
- Very frequent (80% to 99% of cases)
- Abnormal sperm tail morphologyHPOHP:0012868
- Very frequent (80% to 99% of cases)
- Abnormal spermatogenesisHPOHP:0008669
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- GlobozoospermiaHPOHP:0012205
- Very frequent (80% to 99% of cases)
- Increased circulating gonadotropin levelHPOHP:0000837
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of