SPATA16 gene related symptoms and diseases
All the information presented here about the SPATA16 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SPATA16 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Infertility | Very Common - Between 80% and 100% cases |
| Male infertility | Very Common - Between 80% and 100% cases |
| Globozoospermia | Very Common - Between 80% and 100% cases |
| Abnormal sperm morphology | Uncommon - Between 30% and 50% cases |
Rare diseases associated to SPATA16 gene
Here you will find a list of rare diseases related to the SPATA16. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPERMATOGENIC FAILURE 6; SPGF6
Alternate names
SPERMATOGENIC FAILURE 6; SPGF6 Is also known as globozoospermia, acrosome malformation of spermatozoa, spermatozoa, round-headed, round-headed spermatozoa
Description
Spermatogenic failure-6 is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997).For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).
Most common symptoms of SPERMATOGENIC FAILURE 6; SPGF6
- Infertility
- Male infertility
- Abnormal sperm morphology
- Globozoospermia
More info about SPERMATOGENIC FAILURE 6; SPGF6
SOURCES: OMIM
MALE INFERTILITY DUE TO GLOBOZOOSPERMIA
Alternate names
MALE INFERTILITY DUE TO GLOBOZOOSPERMIA Is also known as globozoospermia, total, round-headed sperm syndrome, male infertility due to round-headed spermatozoa, globozoospermia, complete
Description
Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.
Most common symptoms of MALE INFERTILITY DUE TO GLOBOZOOSPERMIA
- Infertility
- Male infertility
- Globozoospermia
More info about MALE INFERTILITY DUE TO GLOBOZOOSPERMIA
Search interest in SPATA16
Potential gene panels for SPATA16 gene
SPATA16. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SPATA16 gene.
More info about this panel Spain.
Spermatogenic failure 6 (SPGF6, sequence analysis of SPATA16 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SPATA16 gene.
More info about this panel Portugal.
Globozoospermia via SPATA16 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SPATA16 gene.
More info about this panel United States.
Male Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
SPGF6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SPATA16 gene.
More info about this panel Germany.
SPATA16 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPATA16 gene.
More info about this panel United States.
Male Infertility due to Globozoospermia , Sequencing SPATA16 Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SPATA16 gene.
More info about this panel Spain.
Spermatogenic Failure , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Spermatogenic Failure , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: AURKC USP9Y CATSPER1 SYCP3 KLHL10 DPY19L2 SEPT12 SPATA16 NR5A1
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CTSF DOCK8 GNAT2 NKX3-2 ADGRG2 ANXA11 IMMP2L