Spermatogenic Failure 41 (SPGF41)

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Disease Ontology 12 DOID:0111912 OMIM® 57 618670 OMIM Phenotypic Series 57 PS258150

MeSH 44 D007248 MedGen 41 C5231455 CN262873 SNOMED-CT via HPO 68 258211005 2904007

OMIM® : ⁵⁷ Spermatogenic failure-41 (SPGF41) is characterized by infertility due to multiple morphologic abnormalities of the flagella (MMAF). Patient semen analysis has also shown oligozoospermia, and the flagellar abnormalities include short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities (Beurois et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618670) (Updated 20-May-2021)

MalaCards based summary : Spermatogenic Failure 41, is also known as spgf41. An important gene associated with Spermatogenic Failure 41 is CFAP70 (Cilia And Flagella Associated Protein 70). Related phenotypes are male infertility and oligospermia

Disease Ontology : ¹² A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has material basis in homozygous or compound heterozygous mutation in CFAP70 on chromosome 10q22.2.

UniProtKB/Swiss-Prot : ⁷² Spermatogenic failure 41: An autosomal recessive infertility disorder characterized by oligozoospermia, severe asthenozoospermia and flagellar abnormalities such as short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities.

Clinical features from OMIM®:

618670 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 41

Search GEO for disease gene expression data for Spermatogenic Failure 41.