Spermatogenic Failure 27 (SPGF27)

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OMIM 57 617965 MedGen 42 CN244916

MeSH 44 D007248 SNOMED-CT via HPO 69 15296000 8619003

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). Related phenotype is infertility.

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Clinical features from OMIM:

617965

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 27

Search GEO for disease gene expression data for Spermatogenic Failure 27.