Male infertility with teratozoospermia due to single gene mutation is 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.
Matched Phenotype
Gene
Mutation
MeSH
Rank
(Similarity) |
PMID
(PMCID) |
Phenotype(s) retrieved from Orphanet
Total: 8
| HPO ID |
Term |
Frequency |
| HP:0000118 |
Phenotypic abnormality |
Very frequent (99-80%) |
| HP:0000837 |
Increased circulating gonadotropin level |
Very frequent (99-80%) |
| HP:0008669 |
Abnormal spermatogenesis |
Very frequent (99-80%) |
| HP:0008734 |
Decreased testicular size |
Very frequent (99-80%) |
| HP:0011961 |
Non-obstructive azoospermia |
Very frequent (99-80%) |
| HP:0012205 |
Globozoospermia |
Very frequent (99-80%) |
| HP:0012864 |
Abnormal sperm morphology |
Very frequent (99-80%) |
| HP:0012868 |
Sperm tail anomaly |
Very frequent (99-80%) |
Phenotype(s) retrieved from case reports
Total: 0
| HPO ID |
Term |
# of case reports |
Causative gene(s) retrieved from Orphanet
Total: 1
| Gene Symbol |
Gene Name |
Entrez Gene ID |
| NANOS1 |
nanos C2HC-type zinc finger 1 |
340719 |
