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嗅觉正常先天性低促性腺激素性性腺功能减退症

Normosmic congenital hypogonadotropic hypogonadism

ORPHA:432疾病亚型

别名

嗅觉正常-特发性低促性腺激素性性腺功能减退症

基本事实

遗传方式
常染色体显性、常染色体隐性、多基因/多因素、X 连锁隐性
发病年龄
婴儿期、新生儿期

相关基因 19

基因名称关联类型
EMX2empty spiracles homeobox 2Disease-causing germline mutation(s) in
PROK2prokineticin 2Disease-causing germline mutation(s) (loss of function) in
PROKR2prokineticin receptor 2Disease-causing germline mutation(s) (loss of function) in
CHD7chromodomain helicase DNA binding protein 7Disease-causing germline mutation(s) in
FGFR1fibroblast growth factor receptor 1Disease-causing germline mutation(s) (loss of function) in
GNRHRgonadotropin releasing hormone receptorDisease-causing germline mutation(s) (loss of function) in
KISS1RKISS1 receptorDisease-causing germline mutation(s) (loss of function) in
NSMFNMDA receptor synaptonuclear signaling and neuronal migration factorDisease-causing germline mutation(s) in
GNRH1gonadotropin releasing hormone 1Disease-causing germline mutation(s) in
FGF8fibroblast growth factor 8Disease-causing germline mutation(s) (loss of function) in
TAC3tachykinin precursor 3Disease-causing germline mutation(s) (loss of function) in
TACR3tachykinin receptor 3Disease-causing germline mutation(s) (loss of function) in
WDR11WD repeat domain 11Disease-causing germline mutation(s) in
HS6ST1heparan sulfate 6-O-sulfotransferase 1Disease-causing germline mutation(s) (loss of function) in
KISS1KiSS-1 metastasis suppressorDisease-causing germline mutation(s) (loss of function) in
FGF17fibroblast growth factor 17Disease-causing germline mutation(s) in
DUSP6dual specificity phosphatase 6Disease-causing germline mutation(s) in
SPRY4sprouty RTK signaling antagonist 4Disease-causing germline mutation(s) in
NHLH2nescient helix-loop-helix 2Disease-causing germline mutation(s) in

临床表型 38

极常见 99–80%21

  • 声音异常 HP:0001608
  • 青春期发育缺失 HP:0008197
  • 第二性征缺乏 HP:0008187
  • 无精症 HP:0000027
  • 乳房发育不良 HP:0003187
  • 隐睾 HP:0000028
  • 血清睾酮水平降低 HP:0040171
  • 睾丸体积过小 HP:0008734
  • 骨成熟延迟 HP:0002750
  • 类无睾者习性 HP:0003782
  • 女性性腺功能减退症 HP:0000134
  • 低促性腺激素性性腺功能减退症 HP:0000044
  • 阳痿 HP:0000802
  • 女性性欲亢进 HP:0030019
  • 男性性腺功能减退症 HP:0000026
  • 小阴茎 HP:0000054
  • 非梗阻性无精症 HP:0011961
  • 表型异常 HP:0000118
  • 原发性闭经 HP:0000786
  • 体毛稀疏 HP:0002231
  • 乳头间距宽 HP:0006610

常见 79–30%10

  • 身高异常 HP:0000002
  • 焦虑 HP:0000739
  • 青春期发育延迟 HP:0000823
  • 抑郁 HP:0000716
  • 男子女性乳房发育 HP:0000771
  • 卵巢发育不良 HP:0008724
  • 子宫发育不良 HP:0000013
  • 骨质减少 HP:0000938
  • 骨质疏松 HP:0000939
  • 继发性闭经 HP:0000869

偶见 29–5%7

  • 牙列异常 HP:0000164
  • 指（趾）关节屈曲 HP:0012385
  • 腭裂 HP:0000175
  • 先天性感音神经性听力受损 HP:0008527
  • 鼻梁塌陷 HP:0005280
  • 全身关节过度活动 HP:0002761
  • 眼距过宽 HP:0000316

外部标识与链接

OrphanetOMIM:146110OMIM:147950OMIM:244200MONDO:0018555ICD-10 E23.0ICD-11 5A61.0ClinicalTrials.gov 检索

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）