SPERMATOGENIC FAILURE 6

General Information (adopted from Orphanet):

Synonyms, Signs: ROUND-HEADED SPERMATOZOA
ACROSOME MALFORMATION OF SPERMATOZOA
SPERMATOZOA, ROUND-HEADED
GLOBOZOOSPERMIA
SPGF6
Number of Symptoms 2
OrphanetNr:
OMIM Id: 102530
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000789) Infertility 74 / 7739
2
(OMIM) Malformed acrosomes of spermatids and spermatozoa 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Vegni-Talluri et al. (1977) observed acrosome malformations of spermatids and spermatozoa in the testes of 2 infertile males who were investigated by light and electron microscopy. The first visible abnormality appeared at early spermatid stages. Defective differentiation of ...
Molecular genetics OMIM Dam et al. (2007) presented a consanguineous family in which 3 brothers with globozoospermia were found to be homozygous for a mutation in the spermatogenesis-specific gene SPATA16 (609856.0001). The authors stated that this was the first example of ...
Population genetics OMIM Dam et al. (2007) stated that globozoospermia has an incidence of less that 0.1% in male infertile patients.