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male infertility due to large-headed multiflagellar polyploid spermatozoa

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Male 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).
Uniprot Description 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.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009461:  male infertility due to large-headed multiflagellar polyploid spermatozoa
GARD:0012385: 
MESH:C562903: 
Orphanet:137893: 
SCTID:236806004: 
UMLS:C0403812: