Spermatogenic Failure 27 (SPGF27)

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Disease Ontology 12 DOID:0111928 OMIM® 57 617965 OMIM Phenotypic Series 57 PS258150

MeSH 44 D007248 MedGen 41 C4693784 CN244916 SNOMED-CT via HPO 68 15296000 258211005 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) (Updated 05-Mar-2021)

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.

Disease Ontology : ¹² A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has material basis in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2.

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.

Clinical features from OMIM®:

617965 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 27

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