spermatogenic failure 15
MONDO:0014847Mondo
Findings
No curated finding names spermatogenic failure 15 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 SYCE1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014847), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
6 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.
- Male infertilityHPOHP:0003251
- 4 of 4 reported patients
- Non-obstructive azoospermiaHPOHP:0011961
- 4 of 4 reported patients
- Spermatogenesis maturation arrestHPOHP:0031038
- 1 of 1 reported patient
- Abnormal circulating follicle-stimulating hormone concentrationHPOHP:0030346
- 0 of 4 reported patients
- Abnormal circulating luteinizing hormone concentrationHPOHP:0030345
- 0 of 4 reported patients
- Abnormal circulating testosterone concentrationHPOHP:0030087
- 0 of 2 reported patients
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.
- SYCE1HGNC:28852
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: spermatogenic failure 15
- Also called
- azoospermia caused by mutation in SYCE1spermatogenic failure 15; SPGF15spermatogenic failure type 15SPGF15SYCE1 azoospermia