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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
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
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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:
MALACARDS:KLL001
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
--
KLL001
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!
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