SPERMATOGENIC FAILURE 9

General Information (adopted from Orphanet):

Synonyms, Signs: GLOBOZOOSPERMIA, TOTAL
GLOBOZOOSPERMIA, COMPLETE
SPGF9
Number of Symptoms 3
OrphanetNr:
OMIM Id: 613958
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012205) Globozoospermia 2 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
(OMIM) Normal or near-normal sperm counts 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Globozoospermia is a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by Harbuz et al., 2011).

- Genetic Heterogeneity of Spermatogenic Failure

...

Clinical Description OMIM Kilani et al. (2004) studied a consanguineous Jordanian family in which 5 infertile brothers had a complete form of globozoospermia, with 100% of spermatozoa having round heads. There were 5 additional sibs in the family, including 2 sisters ...
Molecular genetics OMIM In a consanguineous Jordanian family originally studied by Kilani et al. (2004), in which 5 infertile brothers had complete globozoospermia mapping to chromosome 12, Koscinski et al. (2011) analyzed the candidate gene DPY19L2 and observed specific amplifications in ...