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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
Complete Androgen Insensitivity Syndrome (CAIS)
Alias:
Complete Androgen Resistance Syndrome
Cais
Androgen Insensitivity Syndrome Complete
Androgen Insensitivity, Complete
Androgen-Insensitivity Syndrome
Testicular Feminization
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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
完全雄激素不敏感综合症,也称为完全雄激素抵抗综合症,与46,xy性发育障碍和脊髓和延髓肌萎缩症,X连锁1有关。与完全雄激素不敏感综合症相关的一个重要基因是AR(雄激素受体),其相关通路/超级通路包括类固醇代谢和初级卵巢功能不全。在该疾病的背景下提到了止痛药和雄激素。附属组织包括子宫和宫颈,相关表型为原发性闭经和女性内部生殖器官的异常形态
Related ID:
MALACARDS:CMP034
MESH:D013734
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
全年龄段
--
26
188
172
CMP034
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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