spermatogenic failure 6
MONDO:0007060Mondo
Findings
No curated finding names spermatogenic failure 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.
Definition from the Mondo Disease Ontology (MONDO:0007060), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- GlobozoospermiaHPOHP:0012205
- 3 of 3 reported patients
- Male infertilityHPOHP:0003251
- 3 of 3 reported patients · Male
- Decreased acrosin in sperm headHPOHP:0031136
Genes
1 gene
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.
- HGNC:29935HGNC:29935
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: spermatogenic failure 6
- Also called
- azoospermia caused by mutation in SPATA16SPATA16 azoospermiaspermatogenic failure type 6