SPGF27
MCID: SPR130
MIFTS: 18
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Spermatogenic Failure 27 (SPGF27)
Categories:
Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Spermatogenic Failure 27:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 2 brothers (last curated may 2018) HPO:31Classifications: |
OMIM :
56
Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018).
For a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617965)
MalaCards based summary : Spermatogenic Failure 27, is also known as spgf27. An important gene associated with Spermatogenic Failure 27 is AK7 (Adenylate Kinase 7). Related phenotype is infertility. UniProtKB/Swiss-Prot : 73 Spermatogenic failure 27: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the sperm flagella, including short, irregular, coiled, or absent flagella. |
Human phenotypes related to Spermatogenic Failure 27:31
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Articles related to Spermatogenic Failure 27:
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ClinVar genetic disease variations for Spermatogenic Failure 27:6
UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 27:73
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Search
GEO
for disease gene expression data for Spermatogenic Failure 27.
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