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SPGF29
MCID: SPR132
MIFTS: 16
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Spermatogenic Failure 29 (SPGF29)
Categories:
Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Spermatogenic Failure 29:Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 2 affected brothers (last curated august 2018) heterozygotes may exhibit oligoteratozoospermia with reduced fertility Classifications: |
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OMIM
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58
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. UniProtKB/Swiss-Prot : 76 Spermatogenic failure 29: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or oligozoospermia. When produced, spermatozoa are immotile and have abnormal morphology, primarily defects of the acrosome and head-neck junction. |
Human phenotypes related to Spermatogenic Failure 29:33
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Genes related to Spermatogenic Failure 29 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spermatogenic Failure 29:6
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Search
GEO
for disease gene expression data for Spermatogenic Failure 29.
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