|
MCID: SPR132
MIFTS: 15
|
Spermatogenic Failure 29
Categories:
Genetic diseases, Rare diseases, Reproductive diseases
|
|
|
|
MalaCards integrated aliases for Spermatogenic Failure 29:
Name: Spermatogenic Failure 29
57
6
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 2 affected brothers (last curated august 2018) heterozygotes may exhibit oligoteratozoospermia with reduced fertility Classifications: |
|
OMIM
:
57
Spermatogenic failure-29 is characterized by nonobstructive azoospermia or oligozoospermia. Sperm that are present are immotile and exhibit abnormal morphology, primarily defects of the acrosome and head-neck junction (Kherraf et al., 2017).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618091)
MalaCards based summary : Spermatogenic Failure 29, is also known as spgf29. An important gene associated with Spermatogenic Failure 29 is SPINK2 (Serine Peptidase Inhibitor, Kazal Type 2). Related phenotype is azoospermia. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:618091Human phenotypes related to Spermatogenic Failure 29:32
|
|
|
ClinVar genetic disease variations for Spermatogenic Failure 29:6
|
|
Search
GEO
for disease gene expression data for Spermatogenic Failure 29.
|
|
|
|