SPGF43
MCID: SPR153
MIFTS: 19
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Spermatogenic Failure 43 (SPGF43)
Categories:
Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Spermatogenic Failure 43:Characteristics:HPO:31Classifications: |
OMIM :
56
Spermatogenic failure-43 (SPGF43) is characterized by infertility and spermatozoa lacking progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Most flagella lack the central pair (9+0 configuration) on ultrastructural analysis (Liu et al., 2019; Sha et al., 2019; Liu et al., 2020). (618751)
MalaCards based summary : Spermatogenic Failure 43, is also known as spgf43. An important gene associated with Spermatogenic Failure 43 is SPEF2 (Sperm Flagellar 2). Related phenotypes are male infertility and reduced sperm motility UniProtKB/Swiss-Prot : 73 Spermatogenic failure 43: An autosomal recessive infertility disorder characterized by asthenospermia due to multiple morphologic abnormalities of sperm flagella, including short, absent, coiled, and bent flagella. |
Human phenotypes related to Spermatogenic Failure 43:31
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Articles related to Spermatogenic Failure 43:
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ClinVar genetic disease variations for Spermatogenic Failure 43:6
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Search
GEO
for disease gene expression data for Spermatogenic Failure 43.
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