Male infertility with teratozoospermia due to single gene mutation

Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.



患者の 徴候症状 を入力


症例報告を絞り込む



合計: 0 (症例報告)

  


(表示件数)
対応する徴候・症状  遺伝子  変異  キーワード(MeSH)
順位
(類似度)
PMID
(PMCID)
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 8

HPO ID 徴候・症状 頻度
HP:0000118 Phenotypic abnormality Very frequent (99-80%)
HP:0000837 ゴナドトロピン過剰症 Very frequent (99-80%)
HP:0008669 精子形成異常 Very frequent (99-80%)
HP:0008734 精巣サイズ減少 Very frequent (99-80%)
HP:0011961 非閉塞性無精子症 Very frequent (99-80%)
HP:0012205 巨大頭部精子症 Very frequent (99-80%)
HP:0012864 精子形態異常 Very frequent (99-80%)
HP:0012868 精子尾部奇形 Very frequent (99-80%)


徴候・症状リスト(症例報告から取得)

    合計: 0

HPO ID 徴候・症状 症例報告数


疾患原因遺伝子リスト(Orphanetデータベースから取得)

    合計: 1

Gene Symbol 遺伝子名 Entrez Gene ID
NANOS1 nanos C2HC-type zinc finger 1 340719