spermatogenic failure 5
Findings
No curated finding names spermatogenic failure 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).
Definition from the Mondo Disease Ontology (MONDO:0009461), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
3 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.
- MacrozoospermiaHPOHP:0025437
- 2 of 2 reported patients
- Male infertilityHPOHP:0003251
- 16 of 16 reported patients
- Multiflagellar spermatozoaHPOHP:0034309
- 2 of 2 reported patients
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AURKCHGNC:11391
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- DNAH8HGNC:2952
- Moderate · Franklin by Genoox · Autosomal recessive · 2020
Where it sits
Other names
7 names
Resolves to: spermatogenic failure 5
- Also called
- macrocephalic sperm head syndromemacrozoospermia with multiflagellar polyploid spermatozoamale infertility due to large-headed multiflagellar polyploid spermatozoamale infertility due to macrozoospermiamale infertility with large-headed, multiflagellar, polyploid spermatozoaspermatogenic failure type 5SPGF5