Hypogonadotropic Hypogonadism 23 with or Without Anosmia (HH23)

低促性腺素性功能减退23型伴有或不伴有嗅觉缺失(来自ICD-11)
别称:
Fertile Eunuch Syndrome
46,xy Disorder of Sex Development Due to Luteinizing Hormone Subunit Beta Deficiency
Leydig Cell Hypoplasia Due to Luteinizing Hormone Subunit Beta Deficiency
46,xy Dsd Due to Luteinizing Hormone Subunit Beta Deficiency
46,xy Disorder of Sex Development Due to Lhb Deficiency
Leydig Cell Hypoplasia Due to Lhb Deficiency
46,xy Dsd Due to Lhb Deficiency
Pasqualini Syndrome
Hh23
Hypogonadism, Hypogonadotropic, Type 23, with/without Anosmia
Isolated Lutropin Deficiency
加入收藏
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Hypogonadotropic Hypogonadism 23 with or Without Anosmia, also known as fertile eunuch syndrome, is related to hypogonadotropic hypogonadism 2 with or without anosmia and pseudovaginal perineoscrotal hypospadias. An important gene associated with Hypogonadotropic Hypogonadism 23 with or Without Anosmia is LHB (Luteinizing Hormone Subunit Beta), and among its related pathways/superpathways are Signal Transduction and Class A/1 (Rhodopsin-like receptors). Affiliated tissues include pituitary and uterus, and related phenotypes are azoospermia and male hypogonadism. Hypogonadotropic Hypogonadism 23伴有或不伴有嗅觉丧失,也称为生育性阉人综合征,与伴有或不伴有嗅觉丧失的Hypogonadotropic Hypogonadism 2和假阴道阴囊尿道下裂有关。与Hypogonadotropic Hypogonadism 23伴有或不伴有嗅觉丧失有关的重要基因是LHB(黄体生成素亚基β),其相关通路/超通路包括信号转导和类A/1(视黄醇受体样受体)。附属组织包括垂体和子宫,相关表型为无精子症和男性性腺功能减退。
查看原文 参与反馈
相关ID:

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
常隐
未知
--
8
93
14

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
微信
信息比对
科研助手
使用教程
回到顶部