Spermatogenic Failure 40 (SPGF40)

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Disease Ontology 12 DOID:0111918 OMIM® 57 618664 OMIM Phenotypic Series 57 PS258150

MeSH 44 D007248 MedGen 41 C5231451 CN262872 SNOMED-CT via HPO 68 258211005 2904007

OMIM® : ⁵⁷ Spermatogenic failure-40 (SPGF40) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Patient spermatozoa may also show morphologic defects of the sperm head, with acrosomal hypoplasia or aplasia (Wang et al., 2019; Li et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618664) (Updated 05-Mar-2021)

MalaCards based summary : Spermatogenic Failure 40, is also known as spgf40. An important gene associated with Spermatogenic Failure 40 is CFAP65 (Cilia And Flagella Associated Protein 65). Related phenotypes are male infertility and oligospermia

Disease Ontology : ¹² A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has material basis in homozygous or compound heterozygous mutation in CFAP65 on chromosome 2q35.

UniProtKB/Swiss-Prot : ⁷³ Spermatogenic failure 40: An autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head.

Clinical features from OMIM®:

618664 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 40

Search GEO for disease gene expression data for Spermatogenic Failure 40.