大头部多鞭毛息肉状异常精子所致男性不育症

Male infertility due to large-headed multiflagellar polyploid spermatozoa

ORPHA:137893疾病亚型

定义

大头、多鞭毛和多倍体精子导致的男性不育是一种精子障碍导致的男性不育，其特征是很大比例的精子呈头部增大、头部形状不规则、多鞭毛、中段和顶体异常。通常与严重的活精子稀少无力和畸形，以及高比率的精子染色体异常（多倍体，非整倍体）相关。

巨精子头综合征

基因	名称	关联类型
AURKC	aurora kinase C	Disease-causing germline mutation(s) (loss of function) in
DNAH10	dynein axonemal heavy chain 10	Disease-causing germline mutation(s) in
IFT74	intraflagellar transport 74	Disease-causing germline mutation(s) in
CFAP47	cilia and flagella associated protein 47	Disease-causing germline mutation(s) in
DNHD1	dynein heavy chain domain 1	Disease-causing germline mutation(s) in
AKAP3	A-kinase anchoring protein 3	Disease-causing germline mutation(s) (loss of function) in
CFAP61	cilia and flagella associated protein 61	Disease-causing germline mutation(s) in
ARMC12	armadillo repeat containing 12	Disease-causing germline mutation(s) (loss of function) in

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