Spermatogenic Failure 5 (SPGF5)

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Disease Ontology 12 DOID:0070183 OMIM® 57 243060 OMIM Phenotypic Series 57 PS258150 MeSH 44 C562903 D007248 SNOMED-CT 67 236806004 ICD10 via Orphanet 33 N46

UMLS via Orphanet 72 C0403812 Orphanet 58 ORPHA137893 MedGen 41 C0403812 SNOMED-CT via HPO 68 258211005 2904007 UMLS 71 C0403812

MedlinePlus Genetics : ⁴³ Macrozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).In affected males, almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the male's genetic information that is to be passed on to the next generation. Normally, the head of a sperm cell contains one copy of each chromosome. In men with macrozoospermia, the sperm cell head contains extra chromosomes, usually four copies of each instead of the usual one. This additional genetic material accounts for the larger head size of the sperm cell. Additionally, instead of having one tail (flagellum) per sperm cell, affected sperm have multiple flagella, most often four.Because of the additional genetic material, if one of these abnormal sperm cells combines with an egg cell, the embryo will not develop or the pregnancy will result in miscarriage.

MalaCards based summary : Spermatogenic Failure 5, also known as male infertility with large-headed, multiflagellar, polyploid spermatozoa, is related to infertility and male infertility. An important gene associated with Spermatogenic Failure 5 is AURKC (Aurora Kinase C), and among its related pathways/superpathways is DNA Damage. Related phenotypes are functional abnormality of male internal genitalia and male infertility

Disease Ontology : ¹² A male infertility characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has material basis in mutation in the AURKC gene on chromosome 19q13.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 137893DefinitionMale infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).Visit the Orphanet disease page for more resources.

OMIM® : ⁵⁷ Spermatogenic failure-5 is a form of male infertility associated with large-headed, multiflagellar, polyploid spermatozoa (Dieterich et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (243060) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ Spermatogenic failure 5: An infertility disorder caused by spermatogenesis defects. Semen from affected men show close to 100% morphologically abnormal multiflagellar spermatozoa with low motility, oversized irregular heads, and abnormal midpiece and acrosome.

Clinical features from OMIM®:

243060 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 5

Search GEO for disease gene expression data for Spermatogenic Failure 5.