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MCID: SPR130
MIFTS: 13
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Spermatogenic Failure 27
Categories:
Genetic diseases, Reproductive diseases, Rare diseases
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MalaCards integrated aliases for Spermatogenic Failure 27:
Name: Spermatogenic Failure 27
57
6
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 2 brothers (last curated may 2018) Classifications: |
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OMIM
:
57
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). |
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ClinVar genetic disease variations for Spermatogenic Failure 27:6
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Search
GEO
for disease gene expression data for Spermatogenic Failure 27.
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