SPERMATOGENIC FAILURE 11

General Information (adopted from Orphanet):

Synonyms, Signs: SPGF11
Number of Symptoms 7
OrphanetNr:
OMIM Id: 615081
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:0000027) Azoospermia 28 / 7739
2
(HPO:0000798) Oligospermia 13 / 7739
3
(HPO:0000789) Infertility 74 / 7739
4
(HPO:0012864) Abnormal sperm morphology rare [HPO:skoehler] 2 / 7739
5
(OMIM) Spermatogenic failure 2 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Teratozoospermia (in some patients) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Using spermatozoa RNA, Yatsenko et al. (2006) screened the candidate gene KLHL10 (608778) by direct sequence analysis in 556 men with oligozoospermia (sperm counts less than 34 million per milliliter), and identified heterozygosity for 1 splice site mutation ...