SPERMATOGENIC FAILURE 10

General Information (adopted from Orphanet):

Synonyms, Signs: SPGF10
SPERMATOGENIC FAILURE WITH DEFECTIVE SPERM ANNULUS
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614822
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:0000789) Infertility 74 / 7739
2
(OMIM) Oligoasthenozoospermia (in some patients) 1 / 7739
3
(HPO:0012864) Abnormal sperm morphology rare [HPO:skoehler] 2 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Teratozoospermia (in some patients) 2 / 7739
6
(OMIM) Asthenoteratozoospermia 2 / 7739
7
(OMIM) Spermatogenic failure 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Male infertility has been shown to be associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests ...
Clinical Description OMIM Kuo et al. (2012) studied 2 infertile men with SEPT12 mutations. The first man had asthenoteratozoospermia, with a sperm count of 20.5 x 10(6)/ml, morphology that was 92% abnormal, and a total motility of 48% (42% rapid progressive ...
Molecular genetics OMIM Lin et al. (2012) analyzed the SEPT12 gene (611562) in 160 infertile men and 200 fertile controls and identified a variant (474G-A; 611562.0001) that was more prevalent in infertile men than controls, in both allele (p = 0.007) ...