SPGF40
MCID: SPR150
MIFTS: 19
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Spermatogenic Failure 40 (SPGF40)
Categories:
Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Spermatogenic Failure 40:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
rare patients report symptoms consistent with primary ciliary dyskinesia (pcd), but a definitive diagnosis of pcd has not been confirmed in patients with cfap65-associated infertility Classifications: |
OMIM :
56
Spermatogenic failure-40 (SPGF40) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Patient spermatozoa may also show morphologic defects of the sperm head, with acrosomal hypoplasia or aplasia (Wang et al., 2019; Li et al., 2019).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618664)
MalaCards based summary : Spermatogenic Failure 40, is also known as spgf40. An important gene associated with Spermatogenic Failure 40 is CFAP65 (Cilia And Flagella Associated Protein 65). UniProtKB/Swiss-Prot : 73 Spermatogenic failure 40: An autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head. |
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Articles related to Spermatogenic Failure 40:
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ClinVar genetic disease variations for Spermatogenic Failure 40:6
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Search
GEO
for disease gene expression data for Spermatogenic Failure 40.
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