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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
Hypogonadotropic Hypogonadism 4 with or Without Anosmia (HH4)
Alias:
Kallmann Syndrome 4
Hh4
Hypogonadotropic Hypogonadism, Type 4 with/without Anosmia
Kal4
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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
低促性腺激素性低促性腺激素性性腺功能减退4伴有或不伴有嗅觉丧失,也称为卡曼综合征4,与伴有或不伴有嗅觉丧失的低促性腺激素性性腺功能减退2和双基因性腺发育不全有关。与低促性腺激素性低促性腺激素性性腺功能减退4伴有或不伴有嗅觉丧失有关的重要基因是PROK2(促动力素2),其相关通路/超级通路包括Wnt / Hedgehog / Notch。附属组织包括垂体和嗅球,相关表型包括肥胖和青春期发育缺失。
Related ID:
MALACARDS:HYP531
OMIM:610628
MESH:D017436
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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6
55
5
HYP531
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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