SPERMATOGENIC FAILURE 3

General Information (adopted from Orphanet):

Synonyms, Signs: SPGF3
Number of Symptoms 6
OrphanetNr:
OMIM Id: 606766
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
2
(OMIM) Low sperm counts (in some patients) 1 / 7739
3
(OMIM) Spermatozoa with coiled tails (in some patients) 1 / 7739
4
(OMIM) Abnormally shaped posterior part of sperm head (in some patients) 1 / 7739
5
(OMIM) Infertility due to asthenozoospermia 1 / 7739
6
(OMIM) Flagellar defects 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dirami et al. (2013) studied 3 men with primary infertility and moderate to severe asthenozoospermia associated with mutations in the SLC26A8 gene (see MOLECULAR GENETICS). The first was a 44-year-old man who had low ejaculate volume and a ...
Molecular genetics OMIM In a cohort of 146 men being treated for infertility, Dirami et al. (2013) analyzed the coding sequence of the candidate gene SLC26A8 by DHPLC and direct sequencing and identified heterozygosity for 3 missense mutations in 3 men ...