Kallmann Syndrome

Alias:
Hypogonadism with Anosmia
Congenital Hypogonadotropic Hypogonadism with Anosmia
Olfacto-Genital Pathological Sequence
Kallman's Syndrome
Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism-Anosmia Syndrome
Hypogonadotropic Hypogonadism and Anosmia
Familial Hypogonadism with Anosmia
Anosmic Hypogonadism
Kallman Syndrome
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
卡曼综合征,又称无嗅性低性腺功能减退症,是一种与无嗅性低促性腺激素性性腺功能减退症1和无嗅性低促性腺激素性性腺功能减退症2有关的疾病。与卡曼综合征有关的重要基因是PROKR2(促动力素受体2),其相关通路/超通路包括信号转导和NF-κB家族通路。在该疾病的背景下,锌离子和尿促性腺激素已被提及。附属组织包括垂体和乳腺,相关表型包括延迟青春期和低促性腺激素性性腺功能减退症。
Related ID:
MESH:D017436

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
X染色体
X显
常隐
孩童期
1-9/100000
139
1342
--

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
微信
信息比对
科研助手
使用教程
回到顶部